Progesterone receptor gene polymorphisms and risk of endometriosis: results from an international collaborative effort.
OBJECTIVE: To investigate the association between self-reported endometriosis and the putative functional promoter +331C/T single nucleotide polymorphism and the PROGINS allele. DESIGN: Control subjects from ovarian cancer case-control studies participating in the international Ovarian Cancer Association Consortium. The majority of controls are drawn from population-based studies. SETTING: An international ovarian cancer consortium including studies from Australia, Europe, and the United States. PATIENT(S): Five thousand eight hundred twelve white female controls, of whom 348 had endometriosis, from eight ovarian cancer case-control studies. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotypes for the +331C/T single nucleotide polymorphism and PROGINS allele and a history of endometriosis. RESULT(S): The occurrence of endometriosis was reduced in women carrying one or more copies of the +331 T allele (odds ratio=0.65; 95% confidence interval: 0.43-0.98), whereas there was no association between the PROGINS allele and endometriosis (odds ratio=0.94, 95% confidence interval 0.76-1.16). CONCLUSION(S): Additional studies of the +331C/T variant are warranted given the current finding and the equivocal results of previous studies. The +331 T allele has been shown to result in a reduced progesterone (P) receptor A to P receptor B ratio, and if the observed association with endometriosis is confirmed it would suggest that this ratio is important for this disease.
Near, AM; Wu, AH; Templeman, C; Van Den Berg, DJ; Doherty, JA; Rossing, MA; Goode, EL; Cunningham, JM; Vierkant, RA; Fridley, BL; Chenevix-Trench, G; Webb, PM; Kjær, SK; Hogdall, E; Gayther, SA; Ramus, SJ; Menon, U; Gentry-Maharaj, A; Schildkraut, JM; Moorman, PG; Palmieri, RT; Ness, RB; Moysich, K; Cramer, DW; Terry, KL; Vitonis, AF; Pike, MC; Berchuck, A; Pearce, CL; Ovarian Cancer Association Consortium, ; Australian Cancer Study (Ovarian Cancer) (ACS), ; Australian Ovarian Cancer Study Group (AOCS),
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