title: Analysis of Connexin37 gene C1019T polymorphism and PCOS susceptibility in South Indian population: case-control study.
abstract: OBJECTIVE
  Polycystic ovarian syndrome (PCOS) is a complex and multifactorial disorder believed to be the consequence of a complex interaction between genetic, immunological, and environmental factors. The main aim of this study was to investigate the association of Connexin37 (Cx37)/Gap junction alpha 4 (GJA4) gene C1019T single nucleotide polymorphism (SNP) with the susceptibility to polycystic ovarian syndrome (PCOS) in South Indian women.
  
  
  METHODS
  This study comprises 98 PCOS patients and 100 healthy women without PCOS of South Indian origin. We genotyped total of seventeen selected Cx37 SNPs including C1019T (rs1764391) by polymerase chain reaction and sequencing analysis. The genotype frequency and allele distributions of cases and controls were analyzed using Fisher's exact test.
  
  
  RESULTS
  The genotype and allele frequencies of the C1019T polymorphism significantly differ between cases and controls. The frequencies of C/C genotype (P=0.009) and 'C' allele (P=0.002) of the C1019T polymorphism showed a significant prevalence in cases compared to controls.
  
  
  CONCLUSIONS
  Our findings suggest that the Cx37 C1019T variation may contribute to the risk of PCOS in the South Indian women.
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, India.
authors.forename: Praveen
authors.initials: P
authors.lastname: Guruvaiah
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, India.
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, India.
authors.forename: Tumu Venkat
authors.initials: TV
authors.lastname: Reddy
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, India.
authors.forename: Himabindu
authors.initials: H
authors.lastname: Beeram
authors.affiliation: Infertility Institute and Research Centre (IIRC), Secunderabad, India.
authors.forename: Mamata
authors.initials: M
authors.lastname: Deenadayal
authors.affiliation: Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India.
authors.forename: Sisinthy
authors.initials: S
authors.lastname: Shivaji
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, India. Electronic address: bhanoorim@yahoo.co.in.
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult; D000097006:Gap Junction alpha-4 Protein
chemical_list: D017630:Connexins; D000097006:Gap Junction alpha-4 Protein
keywords: Connexin37; Gene; PCOS; SNP; South Indian women