INSR gene rs2252673 polymorphism is associated with polycystic ovarian syndrome in Pakistani women

Abstract

PCOS (Polycystic ovary syndrome) is an endocrine disorder that affects 5 to 10 percent of the women population globally. PCOS is characterized by chronic anovulation and hyperandrogenism with irregular menstruation or no menstruation, irregular ovulation, complications in pregnancy, abnormal hair growth, weight gain, and hair loss. Previous studies have shown association of INSR gene SNPs with clinical PCOS. We aimed to study the association of rs2252673 (C>G)  polymorphism of INSR gene through Amplification Refractory Mutation System (ARMS)-PCR in Pakistani population of Rawalpindi city.Blood samples from 35 diseased and 20 control subjects with no symptoms or family history of PCOS were analysed. DNA was extracted and amplicons obtained by tetra-arms PCR were analyzed. Among the patients and controls, three genotypes CC, GG and GC were observed and, it was found that GG genotype is significantly associated with PCOS in population under study (P<0.05). Results revealed an association of rs2252673 with clinical PCOS. P value is .01 that is P<.05. Carriers of GG allele are more susceptible to PCOS. Further research should be done on a large population. This study could be helpful in exploring disease risk that can lead to early diagnosis and thus an earlier treatment or prevention strategy to overcome any possible risks associated with PCOS.