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 time we report a significant association of -347 GA, -160 A and +54T 3’-UTR variants in CDH1 gene and PCOS risk in South Indian women.
Purpose: Polycystic Ovary Syndrome (PCOS) is a complex multifactorial endocrine metabolic disorder of reproductive-aged women characterized by hyperandrogenism, hirsutism, anovulation, hyperinsulinemia and polycystic ovaries. The main aim of this study was to investigate the association of eNOS and STAT6 gene Single Nucleotide Polymorphisms (SNPs) with the susceptibility of PCOS in South Indian Women. Research question: What is the association status of eNOS and STAT6 SNPs with PCOS? Methods: The present genetic association study involves clinically confirmed PCOS patients (n = 105) and non-PCOS controls (n = 110) of the Dravidian linguistic group. Genotyping of +894G/T (Glu298Asp) SNP of eNOS and 2964G/A SNP of STAT6 was performed by Polymerase Chain Reaction (PCR) and sequencing analysis. Results: There were statistically significant differences in the genotype and allele frequencies of eNOS+894G/T (p = 0.1110) and STAT62964G/A (0.0019) between the cases and controls, according to codominant, dominant and recessive genotype models. Conclusion: In conclusion, the eNOS and STAT6 gene polymorphisms may constitute an inheritable risk factor for PCOS in South Indian women.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.