P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2

Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and up...
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Autor*in:	Samantha Epistolio [verfasserIn] Giulia Ramelli [verfasserIn] Margaret Ottaviano [verfasserIn] Emanuele Crupi [verfasserIn] Laura Marandino [verfasserIn] Maira Biggiogero [verfasserIn] Pier Andrea Maida [verfasserIn] Lorenzo Ruinelli [verfasserIn] Ursula Vogl [verfasserIn] Dylan Mangan [verfasserIn] Mariarosa Pascale [verfasserIn] Marco Cantù [verfasserIn] Alessandro Ceschi [verfasserIn] Enos Bernasconi [verfasserIn] Luca Mazzucchelli [verfasserIn] Carlo Catapano [verfasserIn] Andrea Alimonti [verfasserIn] Christian Garzoni [verfasserIn] Silke Gillessen Sommer [verfasserIn] Federico Mattia Stefanini [verfasserIn] Alessandra Franzetti-Pellanda [verfasserIn] Milo Frattini [verfasserIn] Ricardo Pereira Mestre [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests

Übergeordnetes Werk:	In: Frontiers in Medicine - Frontiers Media S.A., 2014, 8(2022)
Übergeordnetes Werk:	volume:8 ; year:2022

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3389/fmed.2021.793728

Katalog-ID:	DOAJ027152650

Internformat


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520			\|a Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome.
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650		4	\|a direct sequencing
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700	0		\|a Pier Andrea Maida \|e verfasserin \|4 aut
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700	0		\|a Lorenzo Ruinelli \|e verfasserin \|4 aut
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700	0		\|a Dylan Mangan \|e verfasserin \|4 aut
700	0		\|a Mariarosa Pascale \|e verfasserin \|4 aut
700	0		\|a Marco Cantù \|e verfasserin \|4 aut
700	0		\|a Alessandro Ceschi \|e verfasserin \|4 aut
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700	0		\|a Silke Gillessen Sommer \|e verfasserin \|4 aut
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allfields	10.3389/fmed.2021.793728 doi (DE-627)DOAJ027152650 (DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4 DE-627 ger DE-627 rakwb eng R5-920 Samantha Epistolio verfasserin aut P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome. SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests Medicine (General) Giulia Ramelli verfasserin aut Margaret Ottaviano verfasserin aut Emanuele Crupi verfasserin aut Laura Marandino verfasserin aut Maira Biggiogero verfasserin aut Pier Andrea Maida verfasserin aut Pier Andrea Maida verfasserin aut Lorenzo Ruinelli verfasserin aut Ursula Vogl verfasserin aut Dylan Mangan verfasserin aut Mariarosa Pascale verfasserin aut Marco Cantù verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Enos Bernasconi verfasserin aut Enos Bernasconi verfasserin aut Luca Mazzucchelli verfasserin aut Luca Mazzucchelli verfasserin aut Carlo Catapano verfasserin aut Carlo Catapano verfasserin aut Andrea Alimonti verfasserin aut Andrea Alimonti verfasserin aut Christian Garzoni verfasserin aut Silke Gillessen Sommer verfasserin aut Silke Gillessen Sommer verfasserin aut Federico Mattia Stefanini verfasserin aut Alessandra Franzetti-Pellanda verfasserin aut Milo Frattini verfasserin aut Ricardo Pereira Mestre verfasserin aut Ricardo Pereira Mestre verfasserin aut In Frontiers in Medicine Frontiers Media S.A., 2014 8(2022) (DE-627)789482991 (DE-600)2775999-4 2296858X nnns volume:8 year:2022 https://doi.org/10.3389/fmed.2021.793728 kostenfrei https://doaj.org/article/8114a4190eec424eadb0197bced4cfb4 kostenfrei https://www.frontiersin.org/articles/10.3389/fmed.2021.793728/full kostenfrei https://doaj.org/toc/2296-858X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2022
spelling	10.3389/fmed.2021.793728 doi (DE-627)DOAJ027152650 (DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4 DE-627 ger DE-627 rakwb eng R5-920 Samantha Epistolio verfasserin aut P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome. SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests Medicine (General) Giulia Ramelli verfasserin aut Margaret Ottaviano verfasserin aut Emanuele Crupi verfasserin aut Laura Marandino verfasserin aut Maira Biggiogero verfasserin aut Pier Andrea Maida verfasserin aut Pier Andrea Maida verfasserin aut Lorenzo Ruinelli verfasserin aut Ursula Vogl verfasserin aut Dylan Mangan verfasserin aut Mariarosa Pascale verfasserin aut Marco Cantù verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Enos Bernasconi verfasserin aut Enos Bernasconi verfasserin aut Luca Mazzucchelli verfasserin aut Luca Mazzucchelli verfasserin aut Carlo Catapano verfasserin aut Carlo Catapano verfasserin aut Andrea Alimonti verfasserin aut Andrea Alimonti verfasserin aut Christian Garzoni verfasserin aut Silke Gillessen Sommer verfasserin aut Silke Gillessen Sommer verfasserin aut Federico Mattia Stefanini verfasserin aut Alessandra Franzetti-Pellanda verfasserin aut Milo Frattini verfasserin aut Ricardo Pereira Mestre verfasserin aut Ricardo Pereira Mestre verfasserin aut In Frontiers in Medicine Frontiers Media S.A., 2014 8(2022) (DE-627)789482991 (DE-600)2775999-4 2296858X nnns volume:8 year:2022 https://doi.org/10.3389/fmed.2021.793728 kostenfrei https://doaj.org/article/8114a4190eec424eadb0197bced4cfb4 kostenfrei https://www.frontiersin.org/articles/10.3389/fmed.2021.793728/full kostenfrei https://doaj.org/toc/2296-858X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2022
allfields_unstemmed	10.3389/fmed.2021.793728 doi (DE-627)DOAJ027152650 (DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4 DE-627 ger DE-627 rakwb eng R5-920 Samantha Epistolio verfasserin aut P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome. SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests Medicine (General) Giulia Ramelli verfasserin aut Margaret Ottaviano verfasserin aut Emanuele Crupi verfasserin aut Laura Marandino verfasserin aut Maira Biggiogero verfasserin aut Pier Andrea Maida verfasserin aut Pier Andrea Maida verfasserin aut Lorenzo Ruinelli verfasserin aut Ursula Vogl verfasserin aut Dylan Mangan verfasserin aut Mariarosa Pascale verfasserin aut Marco Cantù verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Enos Bernasconi verfasserin aut Enos Bernasconi verfasserin aut Luca Mazzucchelli verfasserin aut Luca Mazzucchelli verfasserin aut Carlo Catapano verfasserin aut Carlo Catapano verfasserin aut Andrea Alimonti verfasserin aut Andrea Alimonti verfasserin aut Christian Garzoni verfasserin aut Silke Gillessen Sommer verfasserin aut Silke Gillessen Sommer verfasserin aut Federico Mattia Stefanini verfasserin aut Alessandra Franzetti-Pellanda verfasserin aut Milo Frattini verfasserin aut Ricardo Pereira Mestre verfasserin aut Ricardo Pereira Mestre verfasserin aut In Frontiers in Medicine Frontiers Media S.A., 2014 8(2022) (DE-627)789482991 (DE-600)2775999-4 2296858X nnns volume:8 year:2022 https://doi.org/10.3389/fmed.2021.793728 kostenfrei https://doaj.org/article/8114a4190eec424eadb0197bced4cfb4 kostenfrei https://www.frontiersin.org/articles/10.3389/fmed.2021.793728/full kostenfrei https://doaj.org/toc/2296-858X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2022
allfieldsGer	10.3389/fmed.2021.793728 doi (DE-627)DOAJ027152650 (DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4 DE-627 ger DE-627 rakwb eng R5-920 Samantha Epistolio verfasserin aut P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome. SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests Medicine (General) Giulia Ramelli verfasserin aut Margaret Ottaviano verfasserin aut Emanuele Crupi verfasserin aut Laura Marandino verfasserin aut Maira Biggiogero verfasserin aut Pier Andrea Maida verfasserin aut Pier Andrea Maida verfasserin aut Lorenzo Ruinelli verfasserin aut Ursula Vogl verfasserin aut Dylan Mangan verfasserin aut Mariarosa Pascale verfasserin aut Marco Cantù verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Enos Bernasconi verfasserin aut Enos Bernasconi verfasserin aut Luca Mazzucchelli verfasserin aut Luca Mazzucchelli verfasserin aut Carlo Catapano verfasserin aut Carlo Catapano verfasserin aut Andrea Alimonti verfasserin aut Andrea Alimonti verfasserin aut Christian Garzoni verfasserin aut Silke Gillessen Sommer verfasserin aut Silke Gillessen Sommer verfasserin aut Federico Mattia Stefanini verfasserin aut Alessandra Franzetti-Pellanda verfasserin aut Milo Frattini verfasserin aut Ricardo Pereira Mestre verfasserin aut Ricardo Pereira Mestre verfasserin aut In Frontiers in Medicine Frontiers Media S.A., 2014 8(2022) (DE-627)789482991 (DE-600)2775999-4 2296858X nnns volume:8 year:2022 https://doi.org/10.3389/fmed.2021.793728 kostenfrei https://doaj.org/article/8114a4190eec424eadb0197bced4cfb4 kostenfrei https://www.frontiersin.org/articles/10.3389/fmed.2021.793728/full kostenfrei https://doaj.org/toc/2296-858X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2022
allfieldsSound	10.3389/fmed.2021.793728 doi (DE-627)DOAJ027152650 (DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4 DE-627 ger DE-627 rakwb eng R5-920 Samantha Epistolio verfasserin aut P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome. SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests Medicine (General) Giulia Ramelli verfasserin aut Margaret Ottaviano verfasserin aut Emanuele Crupi verfasserin aut Laura Marandino verfasserin aut Maira Biggiogero verfasserin aut Pier Andrea Maida verfasserin aut Pier Andrea Maida verfasserin aut Lorenzo Ruinelli verfasserin aut Ursula Vogl verfasserin aut Dylan Mangan verfasserin aut Mariarosa Pascale verfasserin aut Marco Cantù verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Alessandro Ceschi verfasserin aut Enos Bernasconi verfasserin aut Enos Bernasconi verfasserin aut Luca Mazzucchelli verfasserin aut Luca Mazzucchelli verfasserin aut Carlo Catapano verfasserin aut Carlo Catapano verfasserin aut Andrea Alimonti verfasserin aut Andrea Alimonti verfasserin aut Christian Garzoni verfasserin aut Silke Gillessen Sommer verfasserin aut Silke Gillessen Sommer verfasserin aut Federico Mattia Stefanini verfasserin aut Alessandra Franzetti-Pellanda verfasserin aut Milo Frattini verfasserin aut Ricardo Pereira Mestre verfasserin aut Ricardo Pereira Mestre verfasserin aut In Frontiers in Medicine Frontiers Media S.A., 2014 8(2022) (DE-627)789482991 (DE-600)2775999-4 2296858X nnns volume:8 year:2022 https://doi.org/10.3389/fmed.2021.793728 kostenfrei https://doaj.org/article/8114a4190eec424eadb0197bced4cfb4 kostenfrei https://www.frontiersin.org/articles/10.3389/fmed.2021.793728/full kostenfrei https://doaj.org/toc/2296-858X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 8 2022
language	English
source	In Frontiers in Medicine 8(2022) volume:8 year:2022
sourceStr	In Frontiers in Medicine 8(2022) volume:8 year:2022
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests Medicine (General)
isfreeaccess_bool	true
container_title	Frontiers in Medicine
authorswithroles_txt_mv	Samantha Epistolio @@aut@@ Giulia Ramelli @@aut@@ Margaret Ottaviano @@aut@@ Emanuele Crupi @@aut@@ Laura Marandino @@aut@@ Maira Biggiogero @@aut@@ Pier Andrea Maida @@aut@@ Lorenzo Ruinelli @@aut@@ Ursula Vogl @@aut@@ Dylan Mangan @@aut@@ Mariarosa Pascale @@aut@@ Marco Cantù @@aut@@ Alessandro Ceschi @@aut@@ Enos Bernasconi @@aut@@ Luca Mazzucchelli @@aut@@ Carlo Catapano @@aut@@ Andrea Alimonti @@aut@@ Christian Garzoni @@aut@@ Silke Gillessen Sommer @@aut@@ Federico Mattia Stefanini @@aut@@ Alessandra Franzetti-Pellanda @@aut@@ Milo Frattini @@aut@@ Ricardo Pereira Mestre @@aut@@
publishDateDaySort_date	2022-01-01T00:00:00Z
hierarchy_top_id	789482991
id	DOAJ027152650
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ027152650</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230307111621.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230226s2022 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3389/fmed.2021.793728</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ027152650</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">R5-920</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Samantha Epistolio</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A&gt;C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">SARS-CoV-2</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">HSD3B1 gene polymorphism</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">androgen receptor</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">direct sequencing</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Likelihood-ratio tests</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine (General)</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giulia Ramelli</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield 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callnumber-first	R - Medicine
author	Samantha Epistolio
spellingShingle	Samantha Epistolio misc R5-920 misc SARS-CoV-2 misc HSD3B1 gene polymorphism misc androgen receptor misc direct sequencing misc Likelihood-ratio tests misc Medicine (General) P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2
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topic_title	R5-920 P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2 SARS-CoV-2 HSD3B1 gene polymorphism androgen receptor direct sequencing Likelihood-ratio tests
topic	misc R5-920 misc SARS-CoV-2 misc HSD3B1 gene polymorphism misc androgen receptor misc direct sequencing misc Likelihood-ratio tests misc Medicine (General)
topic_unstemmed	misc R5-920 misc SARS-CoV-2 misc HSD3B1 gene polymorphism misc androgen receptor misc direct sequencing misc Likelihood-ratio tests misc Medicine (General)
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title	P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2
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title_full	P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2
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author_browse	Samantha Epistolio Giulia Ramelli Margaret Ottaviano Emanuele Crupi Laura Marandino Maira Biggiogero Pier Andrea Maida Lorenzo Ruinelli Ursula Vogl Dylan Mangan Mariarosa Pascale Marco Cantù Alessandro Ceschi Enos Bernasconi Luca Mazzucchelli Carlo Catapano Andrea Alimonti Christian Garzoni Silke Gillessen Sommer Federico Mattia Stefanini Alessandra Franzetti-Pellanda Milo Frattini Ricardo Pereira Mestre
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title_sort	p1245 polymorphic variants of hsd3b1 gene confer different outcome in specific subgroups of patients infected with sars-cov-2
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title_auth	P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2
abstract	Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome.
abstractGer	Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome.
abstract_unstemmed	Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A>C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. If confirmed, our results could lead to the introduction of HSD3B1 gene status analysis in patients infected with SARS-CoV-2 to predict clinical outcome.
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title_short	P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2
url	https://doi.org/10.3389/fmed.2021.793728 https://doaj.org/article/8114a4190eec424eadb0197bced4cfb4 https://www.frontiersin.org/articles/10.3389/fmed.2021.793728/full https://doaj.org/toc/2296-858X
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author2	Giulia Ramelli Margaret Ottaviano Emanuele Crupi Laura Marandino Maira Biggiogero Pier Andrea Maida Lorenzo Ruinelli Ursula Vogl Dylan Mangan Mariarosa Pascale Marco Cantù Alessandro Ceschi Enos Bernasconi Luca Mazzucchelli Carlo Catapano Andrea Alimonti Christian Garzoni Silke Gillessen Sommer Federico Mattia Stefanini Alessandra Franzetti-Pellanda Milo Frattini Ricardo Pereira Mestre
author2Str	Giulia Ramelli Margaret Ottaviano Emanuele Crupi Laura Marandino Maira Biggiogero Pier Andrea Maida Lorenzo Ruinelli Ursula Vogl Dylan Mangan Mariarosa Pascale Marco Cantù Alessandro Ceschi Enos Bernasconi Luca Mazzucchelli Carlo Catapano Andrea Alimonti Christian Garzoni Silke Gillessen Sommer Federico Mattia Stefanini Alessandra Franzetti-Pellanda Milo Frattini Ricardo Pereira Mestre
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ027152650</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230307111621.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230226s2022 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3389/fmed.2021.793728</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ027152650</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ8114a4190eec424eadb0197bced4cfb4</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">R5-920</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Samantha Epistolio</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Introduction: Severe respiratory syndrome coronavirus 2 (SARS-CoV-2) uses the androgen receptor (AR), through ACE2 receptor and TMPRSS2, to enter nasal and upper airways epithelial cells. Genetic analyses revealed that HSD3B1 P1245C polymorphic variant increases dihydrotestosterone production and upregulation of TMPRSS2 with respect to P1245A variant, thus possibly influencing SARS-CoV-2 infection. Our aim was to characterize the HSD3B1 polymorphism status and its potential association with clinical outcomes in hospitalized patients with COVID-19 in Southern Switzerland.Materials and Methods: The cohort included 400 patients hospitalized for COVID-19 during the first wave between February and May 2020 in two different hospitals of Canton Ticino. Genomic DNA was extracted from formalin-fixed paraffin-embedded tissue blocks, and HSD3B1 gene polymorphism was evaluated by Sanger sequencing. Statistical associations were verified using different test.Results:HSD3B1 polymorphic variants were not associated with a single classical factor related to worse clinical prognosis in hospitalized patients with SARS-CoV-2. However, in specific subgroups, HSD3B1 variants played a clinical role: intensive care unit admission was more probable in patients with P1245C diabetes compared with P1245A individuals without this comorbidity and death was more associated with hypertensive P1245A&gt;C cases than patients with P1245A diabetes without hypertension.Discussion: This is the first study showing that HSD3B1 gene status may influence the severity of SARS-CoV-2 infection. 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P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2

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