Association of CYP11A1 Polymorphisms with Recurrent Pregnancy Loss in the Female Population of Punjab

Recurrent pregnancy loss (RPL) is defined as the failure of two or more clinically recognised pregnancies before 20 weeks of gestation. The prevalence of clinically evident RPL is 1%-2% worldwide. The aetiologies of RPL include uterine anatomic anomalies, uncontrolled diabetes mellitus, untreated hypothyroidism, parental chromosomal abnormalities, antiphospholipid antibody syndrome, thrombophilia, genetic abnormalities and infections.

This study was aimed at investigating the possible association between CYP11A1 (rs11632698) and (rs4077582) polymorphisms with RPL in the female population of Punjab.

The case- control study was conducted on 170 subjects, of which 80 RPL cases and 90 controls were analysed.

Genotypic analysis was performed using the polymerase chain reaction - restriction fragment length polymorphism.

Pearson's Chi-square test was used.

The genotypic frequency of CYP11A1 (rs11632698) A > G polymorphism was statistically significantly different amongst cases and controls (P = 0.00001). It was observed that the presence of the G allele might increase the risk of RPL. A Chisquare analysis of CYP11A1 (rs4077582) (P = 0.01) indicated a significant difference amongst the genotypes of cases and controls of RPL.

CYP11A1 variants (rs11632698 and rs4077582) may be useful markers in determining the genetic susceptibility to the pathogenesis of RPL. Keywords: CYP11A1, recurrent miscarriage, recurrent pregnancy loss, rs11632698, rs4077582, spontaneous abortion.