Status of Estrogen Receptor Beta Gene Polymorphisms rs1256049 and rs4986938 in a cohort of South Indian women with Primary ovarian insufficiency

Abstract

The current study is aimed to investigate the role of estrogen receptor beta gene polymorphisms for causation of Primary Ovarian insufficiency (POI) in south Indian women. Primary Ovarian insufficiency (POI) is a menstrual disorder presenting with Primary and secondary amenorrhea, decreased estradiol levels and increased gonadotrophin levels. Most cases of POI remain unresolved even after exhaustive investigations and is a significant cause of infertility in women in the reproductive age. In this study a total of 276 subjects, of which 138 POI patients and 138 controls were analysed for biochemical profiles of FSH, LH and Estradiol. Genotypic frequencies were calculated for different models of the SNP rs1256049 and rs4986938 in the Estrogen receptor Beta gene by PCR-RFLP (Restriction length polymorphism) analysis. Statistically, significant relation is found for FSH, LH and Estradiol profiles of a different group of Premature ovarian insufficiency and controls (p<0.0001). Genotypic frequencies between patients and controls were compared, and strength of the interdependence of genotypes and POI is confirmed by the odds ratio and 95% confidence intervals. Incidence of 1082 G>A (rs1256049) polymorphisms and 1730 G>A (rs4986938) were not significantly different in both patient and control group (P=0.21 and P=0.4). The presence of 1082 G>A (rs1256049) polymorphisms and 1730 G>A (rs4986938) is not associated with causation of Premature ovarian insufficiency in south Indian women.