Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study

Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier gene...
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Autor*in:	Marson, Fernando Augusto de Fernando Augusto de Lima [verfasserIn] Bertuzzo, Carmen Silvia Ribeiro, Antonio Fernando Ribeiro, Jose Dirceu

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2014

Schlagwörter:	Cystic fibrosis CFTR GSH GCLC GST Genotype Phenotype Modifier genes

Anmerkung:	© Marson et al.; licensee BioMed Central Ltd. 2014

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 15(2014), 1 vom: 04. März
Übergeordnetes Werk:	volume:15 ; year:2014 ; number:1 ; day:04 ; month:03

Links:	Volltext

DOI / URN:	10.1186/1471-2350-15-27

Katalog-ID:	SPR027492982

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245	1	0	\|a Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
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520			\|a Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations.
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allfields	10.1186/1471-2350-15-27 doi (DE-627)SPR027492982 (SPR)1471-2350-15-27-e DE-627 ger DE-627 rakwb eng Marson, Fernando Augusto de Fernando Augusto de Lima verfasserin aut Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Marson et al.; licensee BioMed Central Ltd. 2014 Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. Cystic fibrosis (dpeaa)DE-He213 CFTR (dpeaa)DE-He213 GSH (dpeaa)DE-He213 GCLC (dpeaa)DE-He213 GST (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Modifier genes (dpeaa)DE-He213 Bertuzzo, Carmen Silvia aut Ribeiro, Antonio Fernando aut Ribeiro, Jose Dirceu aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 04. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:04 month:03 https://dx.doi.org/10.1186/1471-2350-15-27 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 15 2014 1 04 03
spelling	10.1186/1471-2350-15-27 doi (DE-627)SPR027492982 (SPR)1471-2350-15-27-e DE-627 ger DE-627 rakwb eng Marson, Fernando Augusto de Fernando Augusto de Lima verfasserin aut Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Marson et al.; licensee BioMed Central Ltd. 2014 Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. Cystic fibrosis (dpeaa)DE-He213 CFTR (dpeaa)DE-He213 GSH (dpeaa)DE-He213 GCLC (dpeaa)DE-He213 GST (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Modifier genes (dpeaa)DE-He213 Bertuzzo, Carmen Silvia aut Ribeiro, Antonio Fernando aut Ribeiro, Jose Dirceu aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 04. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:04 month:03 https://dx.doi.org/10.1186/1471-2350-15-27 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 15 2014 1 04 03
allfields_unstemmed	10.1186/1471-2350-15-27 doi (DE-627)SPR027492982 (SPR)1471-2350-15-27-e DE-627 ger DE-627 rakwb eng Marson, Fernando Augusto de Fernando Augusto de Lima verfasserin aut Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Marson et al.; licensee BioMed Central Ltd. 2014 Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. Cystic fibrosis (dpeaa)DE-He213 CFTR (dpeaa)DE-He213 GSH (dpeaa)DE-He213 GCLC (dpeaa)DE-He213 GST (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Modifier genes (dpeaa)DE-He213 Bertuzzo, Carmen Silvia aut Ribeiro, Antonio Fernando aut Ribeiro, Jose Dirceu aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 04. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:04 month:03 https://dx.doi.org/10.1186/1471-2350-15-27 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 15 2014 1 04 03
allfieldsGer	10.1186/1471-2350-15-27 doi (DE-627)SPR027492982 (SPR)1471-2350-15-27-e DE-627 ger DE-627 rakwb eng Marson, Fernando Augusto de Fernando Augusto de Lima verfasserin aut Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Marson et al.; licensee BioMed Central Ltd. 2014 Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. Cystic fibrosis (dpeaa)DE-He213 CFTR (dpeaa)DE-He213 GSH (dpeaa)DE-He213 GCLC (dpeaa)DE-He213 GST (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Modifier genes (dpeaa)DE-He213 Bertuzzo, Carmen Silvia aut Ribeiro, Antonio Fernando aut Ribeiro, Jose Dirceu aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 04. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:04 month:03 https://dx.doi.org/10.1186/1471-2350-15-27 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 15 2014 1 04 03
allfieldsSound	10.1186/1471-2350-15-27 doi (DE-627)SPR027492982 (SPR)1471-2350-15-27-e DE-627 ger DE-627 rakwb eng Marson, Fernando Augusto de Fernando Augusto de Lima verfasserin aut Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Marson et al.; licensee BioMed Central Ltd. 2014 Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. Cystic fibrosis (dpeaa)DE-He213 CFTR (dpeaa)DE-He213 GSH (dpeaa)DE-He213 GCLC (dpeaa)DE-He213 GST (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Modifier genes (dpeaa)DE-He213 Bertuzzo, Carmen Silvia aut Ribeiro, Antonio Fernando aut Ribeiro, Jose Dirceu aut Enthalten in BMC medical genetics London : BioMed Central, 2000 15(2014), 1 vom: 04. März (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:15 year:2014 number:1 day:04 month:03 https://dx.doi.org/10.1186/1471-2350-15-27 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 15 2014 1 04 03
language	English
source	Enthalten in BMC medical genetics 15(2014), 1 vom: 04. März volume:15 year:2014 number:1 day:04 month:03
sourceStr	Enthalten in BMC medical genetics 15(2014), 1 vom: 04. März volume:15 year:2014 number:1 day:04 month:03
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Cystic fibrosis CFTR GSH GCLC GST Genotype Phenotype Modifier genes
isfreeaccess_bool	true
container_title	BMC medical genetics
authorswithroles_txt_mv	Marson, Fernando Augusto de Fernando Augusto de Lima @@aut@@ Bertuzzo, Carmen Silvia @@aut@@ Ribeiro, Antonio Fernando @@aut@@ Ribeiro, Jose Dirceu @@aut@@
publishDateDaySort_date	2014-03-04T00:00:00Z
hierarchy_top_id	326643788
id	SPR027492982
language_de	englisch
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This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). 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author	Marson, Fernando Augusto de Fernando Augusto de Lima
spellingShingle	Marson, Fernando Augusto de Fernando Augusto de Lima misc Cystic fibrosis misc CFTR misc GSH misc GCLC misc GST misc Genotype misc Phenotype misc Modifier genes Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
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topic_title	Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study Cystic fibrosis (dpeaa)DE-He213 CFTR (dpeaa)DE-He213 GSH (dpeaa)DE-He213 GCLC (dpeaa)DE-He213 GST (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Modifier genes (dpeaa)DE-He213
topic	misc Cystic fibrosis misc CFTR misc GSH misc GCLC misc GST misc Genotype misc Phenotype misc Modifier genes
topic_unstemmed	misc Cystic fibrosis misc CFTR misc GSH misc GCLC misc GST misc Genotype misc Phenotype misc Modifier genes
topic_browse	misc Cystic fibrosis misc CFTR misc GSH misc GCLC misc GST misc Genotype misc Phenotype misc Modifier genes
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title	Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
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title_full	Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
author_sort	Marson, Fernando Augusto de Fernando Augusto de Lima
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author_browse	Marson, Fernando Augusto de Fernando Augusto de Lima Bertuzzo, Carmen Silvia Ribeiro, Antonio Fernando Ribeiro, Jose Dirceu
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author-letter	Marson, Fernando Augusto de Fernando Augusto de Lima
doi_str_mv	10.1186/1471-2350-15-27
title_sort	polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
title_auth	Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
abstract	Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. © Marson et al.; licensee BioMed Central Ltd. 2014
abstractGer	Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. © Marson et al.; licensee BioMed Central Ltd. 2014
abstract_unstemmed	Background Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity. Methods A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. Results Significant associations were found between modifier gene polymorphisms and particular phenotypes or genotype changes. These included GCLC-129C > T with a higher frequency of the Pseudomonas aeruginosa mucoid to CC genotype (p = 0.044), and GCLC-3506A > G with a higher frequency of the no-mucoid P. aeruginosa (NMPA) to AA genotype (p = 0.012). The GSTT1 deletion was associated with a higher frequency of the NMPA to homozygous deletion (p = 0.008), GSTP1 + 313A > G with a minor risk of osteoporosis (p = 0.036), and patient age ≤ 154 months (p = 0.044) with the AA genotype. The Bhalla score was associated with GCLC-3506A > G (p = 0.044) and GSTM1/GSTT1 deletion polymorphisms (p = 0.02), while transcutaneous hemoglobin oxygen saturation levels were associated with GSTT1 deletions (p = 0.048). Conclusion CF severity is associated with polymorphisms in GSH pathways and CFTR mutations. © Marson et al.; licensee BioMed Central Ltd. 2014
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title_short	Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study
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Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study

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