BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.

ABSTRACT:

Purpose

To investigate the role of genetic variations and expression alterations of BRCA1 and BRCA2 genes in the pathophysiology of endometriosis.

Methods

A genetic association study was conducted in 573 endometriosis cases and 490 controls of Indian origin. We genotyped 13 selected promoter SNPs of BRCA1 gene and 2 selected promoter SNPs of BRCA2 gene by PCR-sequencing analysis. In addition, to better understand genetic contributions to the pathophysiology of endometriosis, the expression pattern of BRCA1 & 2 was analyzed in the eutopic endometria of endometriosis cases and controls by western-blot and immunohistochemical analysis.

Results

Our results revealed significant association between BRCA1 rs71361504 (-/GTT) SNP and endometriosis risk in Indian women (P < 0.0

SUBMITTER: Govatati S 

PROVIDER: S-EPMC4354195 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature