title: An interleukin-6 gene promoter polymorphism is associated with polycystic ovary syndrome in South Indian women.
abstract: OBJECTIVE
  Polycystic ovary syndrome (PCOS) is a most common endocrine disorder of reproductive age women. Interleukin-6 is involved in the pathophysiological characteristics associated with polycystic ovary syndrome (PCOS). The-174 G/C IL-6 gene promoter region single nucleotide polymorphism (SNP) may influence or modulate gene function and/or transcriptional efficiency. The current study was aimed to evaluate the association between IL-6 gene -174 G/C promoter polymorphism and Polycystic Ovary Syndrome in South Indian women.
  
  
  METHODS
  In the present study, we examined the genotypic and allele distribution among the PCOS patients (n = 104) and controls (n = 156). The genotypes of IL-6 -174 G/C SNP were analyzed by polymerase chain reaction (PCR) and sequencing analysis. The allele frequency and genotype distributions of cases and controls were analyzed using Fisher's exact test.
  
  
  RESULTS
  The genotype frequencies observed among the 104 cases and 156 controls were G/G 66.3 % and 49.4 %, G/C 29.8 % and 46.8 %, and C/C 3.8 % and 3.8 % (OR: 1.6226, CI: 1.0574-2.4899). The G and C allele frequencies were 81.25 % and 72.8 %, and 18.75 % and 27.2 %, respectively. The genotype and allele distribution revealed significant differences between PCOS patients and controls (all P values < 0.05).
  
  
  CONCLUSIONS
  Our findings showed a significant statistical association between IL-6 -174 G/C SNP and PCOS risk in South Indian women. The 'G' allele frequency influences significantly higher in PCOS patients than controls. However, the exact mechanism by which 'G' allele frequency influence PCOS patients is yet to be determined.
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad, 500 007, India, venkatreddytm@gmail.com.
authors.forename: Venkat Reddy
authors.initials: VR
authors.lastname: Tumu
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.forename: Praveen
authors.initials: P
authors.lastname: Guruvaiah
authors.forename: Mamata
authors.initials: M
authors.lastname: Deenadayal
authors.forename: Sisinthy
authors.initials: S
authors.lastname: Shivaji
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
mesh_terms: D000328:Adult; D044466:Asian People; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D015850:Interleukin-6 / Q000235:genetics*; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D015850:Interleukin-6