title: Haplotype TGTG from SNP 45T/G and 276G/T of the adiponectin gene contributes to risk of polycystic ovary syndrome.
abstract: BACKGROUND
  Haplotypes of adiponectin gene single nucleotide polymorphisms (SNP) might be related to metabolic disorders.
  
  
  OBJECTIVE
  To assess whether the prevalence of SNP 45T/G and 276G/T of the adiponectin gene and their haplotypes differ between polycystic ovary syndrome (PCOS) and non-hirsute cycling controls and to investigate the relationship between these haplotypes and risk factors for cardiovascular disease.
  
  
  METHODS
  In this case-control study, 80 women with PCOS and 1500 non-hirsute controls with regular cycles underwent clinical and laboratory measurements. Genotype distribution was analyzed by conventional PCR-restriction fragment length polymorphism.
  
  
  RESULTS
  Compared to controls, PCOS women had greater body mass index (BMI) (31.0±7.9 kg/m² vs 23.4±4.6 kg/m²; p<0.001), waist circumference (92.2±18.8 cm vs 74.5±10.2 cm; p<0.001), and systolic and diastolic blood pressure (124.6±19.9 vs 111.5±13.0 mmHg and 79.2±12.5 vs 71.8±10.6 mmHg; p<0.025), as well as a worse lipid profile (p<0.007), even after adjustment for age and BMI. Genotype distribution was similar in PCOS and controls (45T/G: p=0.399; 276G/T: p=0.135). Six haplotypes were inferred and their frequencies differed significantly between the groups (p=0.001). The TGTG haplotype was more frequent in PCOS than controls (41.3 vs 18.9%). In PCOS, the GG genotype for SNP 276 (p=0.031) and the TGTG haplotype (p=0.023) were associated with higher systolic blood pressure vs other genotypes and haplotypes. Body composition, glucose, insulin, and lipid profile were similar across genotypes and haplotypes in both groups.
  
  
  CONCLUSIONS
  Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to susceptibility to PCOS, and might be associated with increased blood pressure in PCOS.
authors.affiliation: Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil.
authors.forename: S
authors.initials: S
authors.lastname: Radavelli-Bagatini
authors.forename: I O
authors.initials: IO
authors.lastname: de Oliveira
authors.forename: R B
authors.initials: RB
authors.lastname: Ramos
authors.forename: B R
authors.initials: BR
authors.lastname: Santos
authors.forename: M S
authors.initials: MS
authors.lastname: Wagner
authors.forename: S B
authors.initials: SB
authors.lastname: Lecke
authors.forename: D P
authors.initials: DP
authors.lastname: Gigante
authors.forename: B L
authors.initials: BL
authors.lastname: Horta
authors.forename: P M
authors.initials: PM
authors.lastname: Spritzer
mesh_terms: D052242:Adiponectin / Q000235:genetics*; D000328:Adult; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D055105:Waist Circumference
chemical_list: D052242:Adiponectin