Distribution of FSHR-29 polymorphism among women with polycystic ovary syndrome and association with level of its receptor expression in Granulosa cells of infertile women

Follicle stimulating hormone receptor (FSHR-gene) is the most studied genetic factor in women with Polycystic Ovarian Syndrome (PCOS). Here, the prevalence of -29 variant of FSHR and the expression level in Granulosa cells in PCOS women undergoing in vitro fertilization (IVF) was investigated. The genotype was studied in 100 PCOS patients and 100 healthy controls undergoing IVF. Moreover, the total RNA was extracted from granulose cells in 30 PCOS patients and 20 healthy controls. The results suggested that GA haplotype of -29 of FSHR appeared more frequent in PCOS patients and might play a role in genetic susceptibility to PCOS. Likewise, the expression of FSHR at mRNA level was reduced in subjects with AA haplotype of -29, as compared with the GG genotype. Also, the expression of mRNA in granulosa cells was upregulated in PCOS patients. Our findings demonstrated a statistically significant association between haplotype of -29 of FSHR with PCOS.