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 Single Nucleotide Polymorphisms (SNPs) CDH1 gene with susceptibility PCOS in South Indian women. This comprised 105 cases and 115 controls origin. We have genotyped promoter -347G/GA (rs5030625), -160C/A (rs16260) 3’-UTR +54C/T (rs1801026) polymorphisms by PCR-DNA sequencing analysis. genotype allele distributions were analysed using Fisher’s exact test. Haplotype frequencies for multiple loci standardized disequilibrium coefficient (D’) pair wise Linkage Disequilibrium (LD) assessed Haploview Software. -347 (P=0.02), -160 (P=0.05) +54(P=0.001) genotypes G/C/T (P=0.003), G/A/T (P=0.037), GA/A/C (P=0.00008) GA/A/T (P=0.0008) haplotypes significantly different between patients controls. A strong LD observed C/A +54 C/T (D’=1), when compared G/GA (D’=0.20) or (D’=0.07) cases. In conclusion, first time we report significant GA, +54T variants risk