Results
| PMID | 20719308 |
| Gene Name | PGR |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | Australia, Europe, and the United States |
| Sex | Female |
| Associated genes | PR |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2011 Jan;95(1):40-5. doi: 10.1016/j.fertnstert.2010.06.059. Epub Near, Aimee M| Wu, Anna H| Templeman, Claire| Van Den Berg, David J| Doherty, Jennifer A| Rossing, Mary Anne| Goode, Ellen L| Cunningham, Julie M| Vierkant, Robert A| Fridley, Brooke L| Chenevix-Trench, Georgia| Webb, Penelope M| Kjaer, Susann Cancer Control Program, Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, DC, USA. 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. Mesh Terms: Adolescent| Adult| Aged| Aged, 80 and over| Australia/epidemiology| Cooperative Behavior| Endometriosis/*epidemiology/*genetics| Europe/epidemiology| Female| Genetic Predisposition to Disease/epidemiology| Genotype| Humans| International Coope |
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