title: Dense mapping of the region of insulin gene VNTR in polycystic ovary syndrome in a population of women from Central Europe.
abstract: BACKGROUND
  Insulin gene VNTR was associated with polycystic ovary syndrome (PCOS) in some studies but not in others. This couldb be due to the heterogeneity of the definition of PCOS and/or the use of inappropriate gene mapping strategies.
  
  
  METHODS
  In this investigation, the association of VNTR with PCOS was explored in a population of women from Central Europe (377 cases and 105 controls) in whom PCOS was diagnosed according to Rotterdam criteria. Seven SNPs: rs3842756 (G/A), rs3842755 (G/T), rs3842754 (C/T), rs3842753 (A/C), rs3842752 (C/T), rs3842748 (G/C), and rs689 (T/A) were genotyped in a portion of the population (160 cases and 95 controls) by sequencing or by SSO-PCR. Analysis of linkage disequilibrium (LD) pattern allowed selecting three tagSNPs (rs3842754, rs3842748, and rs689), which were genotyped in the rest of the population by KASPar.
  
  
  RESULTS
  Six haplotypes were reconstructed, among which three (h1, h2 and h6) were more frequent. Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00-2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054) CONCLUSION: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders.
authors.forename: Redha
authors.initials: R
authors.lastname: Attaoua
authors.affiliation: Molecular Endocrinology Laboratory, Montpellier, France. boecklernelly@gmail.com.
authors.forename: Nelly
authors.initials: N
authors.lastname: Boeckler
authors.forename: Serban
authors.initials: S
authors.lastname: Radian
authors.forename: Samira
authors.initials: S
authors.lastname: Ait El Mkadem
authors.forename: Patrick
authors.initials: P
authors.lastname: Poucheret
authors.forename: Violaine
authors.initials: V
authors.lastname: Latapie
authors.forename: Monica
authors.initials: M
authors.lastname: Gheorghiu
authors.forename: Simona
authors.initials: S
authors.lastname: Fica
authors.forename: Madalina
authors.initials: M
authors.lastname: Vintila
authors.forename: Christophe
authors.initials: C
authors.lastname: Normand
authors.forename: Mihail
authors.initials: M
authors.lastname: Coculescu
authors.forename: Florin
authors.initials: F
authors.lastname: Grigorescu
mesh_terms: D000328:Adult; D005260:Female; D006239:Haplotypes; D006801:Humans; D007328:Insulin / Q000235:genetics*; D018598:Minisatellite Repeats; D009765:Obesity / Q000378:metabolism; D011085:Polycystic Ovary Syndrome / Q000235:genetics / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide; D012383:Romania; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D007328:Insulin