Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis

Objective To follow-up previous studies highlighting a possible role for cytochrome P450, family 2, subfamily C, 19 (CYP2C19) in susceptibility to endometriosis by searching for additional variants in the CYP2C19 gene that may be associated with the disease. Design Case-control study. Setting Academ...

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Auteurs principaux: Painter, J, Nyholt, DR, Krause, L, Zhao, Z, Chapman, B, Zhang, C, Medland, S, Martin, N, Kennedy, S, Treloar, S, Zondervan, K, Montgomery, G
Format: Journal article
Langue:English
Publié: Elsevier 2014
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author Painter, J
Nyholt, DR
Krause, L
Zhao, Z
Chapman, B
Zhang, C
Medland, S
Martin, N
Kennedy, S
Treloar, S
Zondervan, K
Montgomery, G
author_facet Painter, J
Nyholt, DR
Krause, L
Zhao, Z
Chapman, B
Zhang, C
Medland, S
Martin, N
Kennedy, S
Treloar, S
Zondervan, K
Montgomery, G
author_sort Painter, J
collection OXFORD
description Objective To follow-up previous studies highlighting a possible role for cytochrome P450, family 2, subfamily C, 19 (CYP2C19) in susceptibility to endometriosis by searching for additional variants in the CYP2C19 gene that may be associated with the disease. Design Case-control study. Setting Academic research. Subject(s) The cases comprised 2,271 women with surgically confirmed endometriosis; the controls comprised 939 women with self-report of no endometriosis and 1,770 unscreened population samples. Intervention(s) Sequencing of the CYP2C19 region and follow-up of 80 single nucleotide polymorphisms (SNPs) in two case-control samples. Main Outcome Measure(s) Allele frequency differences between cases and controls. Result(s) Sequencing of the CYP2C19 gene region resulted in the detection of a large number of known and novel SNPs. Genotyping of 80 polymorphic SNPs in 901 endometriosis cases and 939 controls resulted in study-wide significant association signals for SNPs in moderate or complete linkage disequilibrium with rs4244285, a functional SNP in exon 5 that abrogates CYP2C19 function through the creation of an alternative splice site. Evidence of association was also detected for another functional SNP in the CYP2C19 promoter, rs12248560, which was highlighted in our previous study. Conclusion(s) Functional variants in CYP2C19 may contribute to endometriosis susceptibility in both familial and sporadic cases. © 2014 by American Society for Reproductive Medicine.
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spelling oxford-uuid:6a2deae6-93c3-4e5a-ad3c-1c02ea8c12772022-03-26T18:55:42ZCommon variants in the CYP2C19 gene are associated with susceptibility to endometriosisJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6a2deae6-93c3-4e5a-ad3c-1c02ea8c1277EnglishSymplectic Elements at OxfordElsevier2014Painter, JNyholt, DRKrause, LZhao, ZChapman, BZhang, CMedland, SMartin, NKennedy, STreloar, SZondervan, KMontgomery, GObjective To follow-up previous studies highlighting a possible role for cytochrome P450, family 2, subfamily C, 19 (CYP2C19) in susceptibility to endometriosis by searching for additional variants in the CYP2C19 gene that may be associated with the disease. Design Case-control study. Setting Academic research. Subject(s) The cases comprised 2,271 women with surgically confirmed endometriosis; the controls comprised 939 women with self-report of no endometriosis and 1,770 unscreened population samples. Intervention(s) Sequencing of the CYP2C19 region and follow-up of 80 single nucleotide polymorphisms (SNPs) in two case-control samples. Main Outcome Measure(s) Allele frequency differences between cases and controls. Result(s) Sequencing of the CYP2C19 gene region resulted in the detection of a large number of known and novel SNPs. Genotyping of 80 polymorphic SNPs in 901 endometriosis cases and 939 controls resulted in study-wide significant association signals for SNPs in moderate or complete linkage disequilibrium with rs4244285, a functional SNP in exon 5 that abrogates CYP2C19 function through the creation of an alternative splice site. Evidence of association was also detected for another functional SNP in the CYP2C19 promoter, rs12248560, which was highlighted in our previous study. Conclusion(s) Functional variants in CYP2C19 may contribute to endometriosis susceptibility in both familial and sporadic cases. © 2014 by American Society for Reproductive Medicine.
spellingShingle Painter, J
Nyholt, DR
Krause, L
Zhao, Z
Chapman, B
Zhang, C
Medland, S
Martin, N
Kennedy, S
Treloar, S
Zondervan, K
Montgomery, G
Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis
title Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis
title_full Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis
title_fullStr Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis
title_full_unstemmed Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis
title_short Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis
title_sort common variants in the cyp2c19 gene are associated with susceptibility to endometriosis
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