Genetic Variants and Haplotypes of CDH1 Gene in Polycystic Ovary Syndrome: A Case Control Study in South Indian Women

Polycystic Ovary Syndrome (PCOS) is a heterogeneous multifactorial endocrine metabolic disorder. The main aim of this study was to investigate the association of Single Nucleotide Polymorphisms (SNPs) of CDH1 gene with the susceptibility to PCOS in South Indian women. This study comprised 105 PCOS cases and 115 controls of South Indian origin. We have genotyped promoter -347G/GA (rs5030625), -160C/A (rs16260) and 3’-UTR +54C/T (rs1801026) of CDH1 gene polymorphisms by PCR-DNA sequencing analysis. The genotype and allele distributions of cases and controls were analysed using Fisher’s exact test. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D’) for pair wise Linkage Disequilibrium (LD) were assessed by Haploview Software. The frequencies of -347 (P=0.02), -160 (P=0.05) and +54(P=0.001) genotypes and G/C/T (P=0.003), G/A/T (P=0.037), GA/A/C (P=0.00008) and GA/A/T (P=0.0008) haplotypes were significantly different between patients and controls. A strong LD was observed between -160 C/A and +54 C/T loci (D’=1), when compared with -347 G/GA and +54 C/T (D’=0.20) or -347 G/GA and -160 C/A (D’=0.07) loci in cases. In conclusion, for the first ti