Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease

Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-express...
Ausführliche Beschreibung

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Autor*in:	Jung, Junghyun [verfasserIn] Kim, Go Woon Lee, Byungjo Joo, Jong Wha J. Jang, Wonhee

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Dupuytren’s disease Unfolded protein response (UPR) Endoplasmic reticulum (ER) stress Multiple-phenotype analysis -regulatory hotspots ZFP57 zinc finger protein Major histocompatibility complex class II

Anmerkung:	© The Author(s). 2019

Übergeordnetes Werk:	Enthalten in: BMC medical genomics - London : BioMed Central, 2008, 12(2019), Suppl 5 vom: 11. Juli
Übergeordnetes Werk:	volume:12 ; year:2019 ; number:Suppl 5 ; day:11 ; month:07

Links:	Volltext

DOI / URN:	10.1186/s12920-019-0518-3

Katalog-ID:	SPR028476743

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520			\|a Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD.
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author_variant	j j jj g w k gw gwk b l bl j w j j jwj jwjj w j wj
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allfields	10.1186/s12920-019-0518-3 doi (DE-627)SPR028476743 (SPR)s12920-019-0518-3-e DE-627 ger DE-627 rakwb eng Jung, Junghyun verfasserin aut Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. Dupuytren’s disease (dpeaa)DE-He213 Unfolded protein response (UPR) (dpeaa)DE-He213 Endoplasmic reticulum (ER) stress (dpeaa)DE-He213 Multiple-phenotype analysis (dpeaa)DE-He213 -regulatory hotspots (dpeaa)DE-He213 ZFP57 zinc finger protein (dpeaa)DE-He213 Major histocompatibility complex class II (dpeaa)DE-He213 Kim, Go Woon aut Lee, Byungjo aut Joo, Jong Wha J. aut Jang, Wonhee aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), Suppl 5 vom: 11. Juli (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:Suppl 5 day:11 month:07 https://dx.doi.org/10.1186/s12920-019-0518-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 12 2019 Suppl 5 11 07
spelling	10.1186/s12920-019-0518-3 doi (DE-627)SPR028476743 (SPR)s12920-019-0518-3-e DE-627 ger DE-627 rakwb eng Jung, Junghyun verfasserin aut Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. Dupuytren’s disease (dpeaa)DE-He213 Unfolded protein response (UPR) (dpeaa)DE-He213 Endoplasmic reticulum (ER) stress (dpeaa)DE-He213 Multiple-phenotype analysis (dpeaa)DE-He213 -regulatory hotspots (dpeaa)DE-He213 ZFP57 zinc finger protein (dpeaa)DE-He213 Major histocompatibility complex class II (dpeaa)DE-He213 Kim, Go Woon aut Lee, Byungjo aut Joo, Jong Wha J. aut Jang, Wonhee aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), Suppl 5 vom: 11. Juli (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:Suppl 5 day:11 month:07 https://dx.doi.org/10.1186/s12920-019-0518-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 12 2019 Suppl 5 11 07
allfields_unstemmed	10.1186/s12920-019-0518-3 doi (DE-627)SPR028476743 (SPR)s12920-019-0518-3-e DE-627 ger DE-627 rakwb eng Jung, Junghyun verfasserin aut Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. Dupuytren’s disease (dpeaa)DE-He213 Unfolded protein response (UPR) (dpeaa)DE-He213 Endoplasmic reticulum (ER) stress (dpeaa)DE-He213 Multiple-phenotype analysis (dpeaa)DE-He213 -regulatory hotspots (dpeaa)DE-He213 ZFP57 zinc finger protein (dpeaa)DE-He213 Major histocompatibility complex class II (dpeaa)DE-He213 Kim, Go Woon aut Lee, Byungjo aut Joo, Jong Wha J. aut Jang, Wonhee aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), Suppl 5 vom: 11. Juli (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:Suppl 5 day:11 month:07 https://dx.doi.org/10.1186/s12920-019-0518-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 12 2019 Suppl 5 11 07
allfieldsGer	10.1186/s12920-019-0518-3 doi (DE-627)SPR028476743 (SPR)s12920-019-0518-3-e DE-627 ger DE-627 rakwb eng Jung, Junghyun verfasserin aut Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. Dupuytren’s disease (dpeaa)DE-He213 Unfolded protein response (UPR) (dpeaa)DE-He213 Endoplasmic reticulum (ER) stress (dpeaa)DE-He213 Multiple-phenotype analysis (dpeaa)DE-He213 -regulatory hotspots (dpeaa)DE-He213 ZFP57 zinc finger protein (dpeaa)DE-He213 Major histocompatibility complex class II (dpeaa)DE-He213 Kim, Go Woon aut Lee, Byungjo aut Joo, Jong Wha J. aut Jang, Wonhee aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), Suppl 5 vom: 11. Juli (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:Suppl 5 day:11 month:07 https://dx.doi.org/10.1186/s12920-019-0518-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 12 2019 Suppl 5 11 07
allfieldsSound	10.1186/s12920-019-0518-3 doi (DE-627)SPR028476743 (SPR)s12920-019-0518-3-e DE-627 ger DE-627 rakwb eng Jung, Junghyun verfasserin aut Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. Dupuytren’s disease (dpeaa)DE-He213 Unfolded protein response (UPR) (dpeaa)DE-He213 Endoplasmic reticulum (ER) stress (dpeaa)DE-He213 Multiple-phenotype analysis (dpeaa)DE-He213 -regulatory hotspots (dpeaa)DE-He213 ZFP57 zinc finger protein (dpeaa)DE-He213 Major histocompatibility complex class II (dpeaa)DE-He213 Kim, Go Woon aut Lee, Byungjo aut Joo, Jong Wha J. aut Jang, Wonhee aut Enthalten in BMC medical genomics London : BioMed Central, 2008 12(2019), Suppl 5 vom: 11. Juli (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:12 year:2019 number:Suppl 5 day:11 month:07 https://dx.doi.org/10.1186/s12920-019-0518-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 12 2019 Suppl 5 11 07
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source	Enthalten in BMC medical genomics 12(2019), Suppl 5 vom: 11. Juli volume:12 year:2019 number:Suppl 5 day:11 month:07
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topic_facet	Dupuytren’s disease Unfolded protein response (UPR) Endoplasmic reticulum (ER) stress Multiple-phenotype analysis -regulatory hotspots ZFP57 zinc finger protein Major histocompatibility complex class II
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author	Jung, Junghyun
spellingShingle	Jung, Junghyun misc Dupuytren’s disease misc Unfolded protein response (UPR) misc Endoplasmic reticulum (ER) stress misc Multiple-phenotype analysis misc -regulatory hotspots misc ZFP57 zinc finger protein misc Major histocompatibility complex class II Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease
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topic_title	Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease Dupuytren’s disease (dpeaa)DE-He213 Unfolded protein response (UPR) (dpeaa)DE-He213 Endoplasmic reticulum (ER) stress (dpeaa)DE-He213 Multiple-phenotype analysis (dpeaa)DE-He213 -regulatory hotspots (dpeaa)DE-He213 ZFP57 zinc finger protein (dpeaa)DE-He213 Major histocompatibility complex class II (dpeaa)DE-He213
topic	misc Dupuytren’s disease misc Unfolded protein response (UPR) misc Endoplasmic reticulum (ER) stress misc Multiple-phenotype analysis misc -regulatory hotspots misc ZFP57 zinc finger protein misc Major histocompatibility complex class II
topic_unstemmed	misc Dupuytren’s disease misc Unfolded protein response (UPR) misc Endoplasmic reticulum (ER) stress misc Multiple-phenotype analysis misc -regulatory hotspots misc ZFP57 zinc finger protein misc Major histocompatibility complex class II
topic_browse	misc Dupuytren’s disease misc Unfolded protein response (UPR) misc Endoplasmic reticulum (ER) stress misc Multiple-phenotype analysis misc -regulatory hotspots misc ZFP57 zinc finger protein misc Major histocompatibility complex class II
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title	Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease
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title_full	Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease
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author_browse	Jung, Junghyun Kim, Go Woon Lee, Byungjo Joo, Jong Wha J. Jang, Wonhee
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title_sort	integrative genomic and transcriptomic analysis of genetic markers in dupuytren’s disease
title_auth	Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease
abstract	Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. © The Author(s). 2019
abstractGer	Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. © The Author(s). 2019
abstract_unstemmed	Background Dupuytren’s disease (DD) is a fibroproliferative disorder characterized by thickening and contracting palmar fascia. The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. Conclusions Among these eGenes, major histocompatibility complex class II genes and ZFP57 zinc finger protein were closely related to ER stress and UPR, suggesting that these genetic markers might be potential therapeutic targets for DD. © The Author(s). 2019
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title_short	Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease
url	https://dx.doi.org/10.1186/s12920-019-0518-3
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author2	Kim, Go Woon Lee, Byungjo Joo, Jong Wha J. Jang, Wonhee
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up_date	2024-07-03T19:40:24.275Z
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The exact pathogenesis of DD remains unknown. Results In this study, we identified co-expressed gene set (DD signature) consisting of 753 genes via weighted gene co-expression network analysis. To confirm the robustness of DD signature, module enrichment analysis and meta-analysis were performed. Moreover, this signature effectively classified DD disease samples. The DD signature were significantly enriched in unfolded protein response (UPR) related to endoplasmic reticulum (ER) stress. Next, we conducted multiple-phenotype regression analysis to identify trans-regulatory hotspots regulating expression levels of DD signature using Genotype-Tissue Expression data. Finally, 10 trans-regulatory hotspots and 16 eGenes genes that are significantly associated with at least one cis-eQTL were identified. 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Integrative genomic and transcriptomic analysis of genetic markers in Dupuytren’s disease

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