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Title: Progesterone receptor gene variants and risk of endometrial cancer
Authors: O'Mara, Tracy A
Fahey, Paul
Ferguson, Kaltin
Marquart, Louise
Lambrechts, Diether
Despierre, Evelyn
Vergote, Ignace
Amant, Frederic
Hall, Per
Liu, Jianjun
Czene, Kamila
Rebbeck, Timothy R
Ahmed, Shahana
Dunning, Alison M
Gregory, Catherine S
Shah, Mitul
Webb, Penelope M
Spurdle, Amanda B # ×
Issue Date: Mar-2011
Publisher: IRL Press
Series Title: Carcinogenesis vol:32 issue:3 pages:331-335
Abstract: Prolonged excessive estrogen exposure unopposed by progesterone is widely accepted to be a risk factor for endometrial cancer development. The physiological function of progesterone is dependent upon the presence of its receptor (progesterone receptor, PGR) and several studies have reported single nucleotide polymorphisms (SNPs) in the PGR gene to be associated with endometrial cancer risk. We sought to confirm the associations with endometrial cancer risk previously reported for four different PGR polymorphisms. A maximum of 2888 endometrial cancer cases and 4483 female control subjects from up to three studies were genotyped for four PGR polymorphisms (rs1042838, rs10895068, rs11224561 and rs471767). Logistic regression with adjustment for age, study, ethnicity and body mass index was performed to calculate odds ratios (OR) and associated 95% confidence intervals (CI) and p-values. Of the four SNPs investigated, only rs11224561 in the 3' region of the PGR gene was found to be significantly associated with endometrial cancer risk. The A allele of the rs11224561 SNP was associated with increased risk of endometrial cancer (OR per allele 1.31; 95% CI 1.12-1.53, p=0.001, adjusted for age and study), an effect of the same magnitude and direction as reported previously. We have validated the endometrial cancer risk association with a tagSNP in the 3' UTR of PGR previously reported in an Asian population. Replication studies will be required to refine the risk estimate and to establish if this, or a correlated SNP, is the underlying causative variant.
URI: 
ISSN: 0143-3334
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Vesalius Research Centre (-)
Gynaecological Oncology
Laboratory of Translational Genetics (Vesalius Research Center) (+)
× corresponding author
# (joint) last author

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