title: Role of D327N sex hormone-binding globulin gene polymorphism in the pathogenesis of polycystic ovary syndrome.
abstract: SHBG (sex hormone-binding globulin) is a transport protein specific for dihydrotestosterone, testosterone and estradiol. The missense mutation in exon 8 (GAC-->AAC) causing the amino acid exchange Asp-->Asn in codon 327 (D327N) correlates according to the published data with increased SHBG levels. We studied possible association of this polymorphism with polycystic ovary syndrome (PCOS) and anthropometric and biochemical parameters in 248 PCOS patients and 109 healthy control women. The D327N polymorphism (wild-type and variant allele) was detected using PCR-RFLP method (restriction enzyme Bbs-I). For statistical evaluation chi(2) test, Mann-Whitney test, ANCOVA, ANOVA (NCSS 2004, Statgraphics Plus v.5.1, USA) were used. There was no significant difference in genotype distribution between PCOS and controls (chi(2)=1.03, p=0.59). Moreover, we did not find an association of the variant allele with plasma SHBG level, steroid hormones, or screened parameters of lipid and glucose metabolism. In conclusion, the D327N polymorphism of the SHBG gene does not influence susceptibility to PCOS.
authors.affiliation: Institute of Endocrinology, Národní 8, 116 94 Prague 1, Czech Republic. bbendlova@endo.cz
authors.forename: Bela
authors.initials: B
authors.lastname: Bendlová
authors.forename: Jana
authors.initials: J
authors.lastname: Zavadilová
authors.forename: Markéta
authors.initials: M
authors.lastname: Vanková
authors.forename: Daniela
authors.initials: D
authors.lastname: Vejrazková
authors.forename: Petra
authors.initials: P
authors.lastname: Lukásová
authors.forename: Josef
authors.initials: J
authors.lastname: Vcelák
authors.forename: Martin
authors.initials: M
authors.lastname: Hill
authors.forename: David
authors.initials: D
authors.lastname: Cibula
authors.forename: Karel
authors.initials: K
authors.lastname: Vondra
authors.forename: Luboslav
authors.initials: L
authors.lastname: Stárka
authors.forename: Jana
authors.initials: J
authors.lastname: Vrbíková
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012738:Sex Hormone-Binding Globulin / Q000235:genetics* / Q000378:metabolism
chemical_list: D012738:Sex Hormone-Binding Globulin; D004247:DNA