Genetic variants in ER cofactor genes and endometrial cancer risk.

Given that the transcriptional regulatory activity of estrogen receptor (ER) is modulated by its biochemical cofactors, genetic variation within the ER cofactor genes may alter cellular response to estrogen exposure and consequently modify the risk for endometrial cancer. We genotyped 685 tagging SN...

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Main Authors: Yuqing Li, Hui-Qi Low, Jia Nee Foo, Hatef Darabi, Kristjana Einarsdόttir, Keith Humphreys, Amanda Spurdle, ANECS Group, Douglas F Easton, Deborah J Thompson, Alison M Dunning, Paul D P Pharoah, Kamila Czene, Kee Seng Chia, Per Hall, Jianjun Liu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0042445&type=printable
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author Yuqing Li
Hui-Qi Low
Jia Nee Foo
Hatef Darabi
Kristjana Einarsdόttir
Keith Humphreys
Amanda Spurdle
ANECS Group
Douglas F Easton
Deborah J Thompson
Alison M Dunning
Paul D P Pharoah
Kamila Czene
Kee Seng Chia
Per Hall
Jianjun Liu
author_facet Yuqing Li
Hui-Qi Low
Jia Nee Foo
Hatef Darabi
Kristjana Einarsdόttir
Keith Humphreys
Amanda Spurdle
ANECS Group
Douglas F Easton
Deborah J Thompson
Alison M Dunning
Paul D P Pharoah
Kamila Czene
Kee Seng Chia
Per Hall
Jianjun Liu
author_sort Yuqing Li
collection DOAJ
description Given that the transcriptional regulatory activity of estrogen receptor (ER) is modulated by its biochemical cofactors, genetic variation within the ER cofactor genes may alter cellular response to estrogen exposure and consequently modify the risk for endometrial cancer. We genotyped 685 tagging SNPs within 60 ER cofactor genes in 564 endometrial cancer cases and 1,510 controls from Sweden, and tested their associations with the risk of endometrial cancer. We investigated the associations of individual SNPs by using a trend test as well as multiple SNPs within a gene or gene complex by using multi-variant association analysis. No significant association was observed for any individual SNPs or genes, but a marginal association of the cumulative genetic variation of the NCOA2 complex as a whole (NCOA2, CARM1, CREBBP, PRMT1 and EP300) with endometrial cancer risk was observed (P(adjusted) = 0.033). However, the association failed to be replicated in an independent European dataset of 1265 cases and 5190 controls (P = 0.71). The results indicate that common genetic variants within ER cofactor genes are unlikely to play a significant role in endometrial cancer risk in European population.
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spelling doaj-art-d4cbe74a61284f7da2aeeb7abd9166e72025-08-20T03:09:48ZengPublic Library of Science (PLoS)PLoS ONE1932-62032012-01-0178e4244510.1371/journal.pone.0042445Genetic variants in ER cofactor genes and endometrial cancer risk.Yuqing LiHui-Qi LowJia Nee FooHatef DarabiKristjana EinarsdόttirKeith HumphreysAmanda SpurdleANECS GroupDouglas F EastonDeborah J ThompsonAlison M DunningPaul D P PharoahKamila CzeneKee Seng ChiaPer HallJianjun LiuGiven that the transcriptional regulatory activity of estrogen receptor (ER) is modulated by its biochemical cofactors, genetic variation within the ER cofactor genes may alter cellular response to estrogen exposure and consequently modify the risk for endometrial cancer. We genotyped 685 tagging SNPs within 60 ER cofactor genes in 564 endometrial cancer cases and 1,510 controls from Sweden, and tested their associations with the risk of endometrial cancer. We investigated the associations of individual SNPs by using a trend test as well as multiple SNPs within a gene or gene complex by using multi-variant association analysis. No significant association was observed for any individual SNPs or genes, but a marginal association of the cumulative genetic variation of the NCOA2 complex as a whole (NCOA2, CARM1, CREBBP, PRMT1 and EP300) with endometrial cancer risk was observed (P(adjusted) = 0.033). However, the association failed to be replicated in an independent European dataset of 1265 cases and 5190 controls (P = 0.71). The results indicate that common genetic variants within ER cofactor genes are unlikely to play a significant role in endometrial cancer risk in European population.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0042445&type=printable
spellingShingle Yuqing Li
Hui-Qi Low
Jia Nee Foo
Hatef Darabi
Kristjana Einarsdόttir
Keith Humphreys
Amanda Spurdle
ANECS Group
Douglas F Easton
Deborah J Thompson
Alison M Dunning
Paul D P Pharoah
Kamila Czene
Kee Seng Chia
Per Hall
Jianjun Liu
Genetic variants in ER cofactor genes and endometrial cancer risk.
PLoS ONE
title Genetic variants in ER cofactor genes and endometrial cancer risk.
title_full Genetic variants in ER cofactor genes and endometrial cancer risk.
title_fullStr Genetic variants in ER cofactor genes and endometrial cancer risk.
title_full_unstemmed Genetic variants in ER cofactor genes and endometrial cancer risk.
title_short Genetic variants in ER cofactor genes and endometrial cancer risk.
title_sort genetic variants in er cofactor genes and endometrial cancer risk
url https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0042445&type=printable
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