Role of CYP17 and CYP19 polymorphisms in idiopathic recurrent miscarriages among South Indian women

Abstract

Recent reports suggest the relevance of gene polymorphisms in predicting reproductive outcome. The present study was aimed at investigating the relationship between the 5' UTR polymorphism of CYP17, a tetranucleotide repeat and a trinucleotide deletion polymorphism in CYP19. A case-control-based study approach was used, which included 143 cases and 88 controls from the South Indian population. A PCR-sequencing based genotyping was used to ascertain the status of the individual. The A1, A2 allele frequencies of CYP17 among the cases were 72 and 28% while among the controls were 68 and 32% respectively (OR 1.21, 95% CI: 0.63-2.32). The 7/7 repeat of CYP19 was the predominant one with a distribution frequency of 55% in the cases and 58% in the controls. The deletion was observed in 39% of the cases and 36% of the controls (OR 1.14, 95% CI: 0.62-2.10). Minor genotypes when taken together represented at a higher frequency in cases than those in controls (13 against 2%, P-value: 0.006). No statistically significant association exists between the CYP17 and CYP19 trinucleotide deletion polymorphisms and the risk of idiopathic recurrent miscarriages among women from South India. However, larger repeat numbers of the tetra nucleotide (except the common 7/11 genotype) showed significant association at 95% level.