title: Polymorphic CAG repeat in the androgen receptor gene in polycystic ovary             syndrome patients.
abstract: Human androgen receptor (AR) contains a highly polymorphic polyglutamine tract encoded by CAG repeats [(CAG)n] in exon 1 of the AR gene. The CAG repeats, ranging from 11 to 38, have been reported to be inversely correlated with AR activity. A case-control study involving 261 polycystic ovary syndrome (PCOS) patients and 278 healthy controls was conducted. Fluorescently labeled DNA fragments containing (CAG)n were obtained by PCR and genotyped via capillary electrophoresis. AR (CAG)n ranges were 6, 12-28 in PCOS cases and 9, 10, 12-32 in controls. In the PCOS group, a higher frequency of short (CAG)n alleles was found compared with that of controls (P=0.007). Similarly, CAG biallelic mean distributions also showed statistical difference between the two groups (P=0.025). In conclusion, shorter alleles of the (CAG)n in exon 1 of the AR gene enhanced the susceptibility to PCOS, either by upregulating AR activity or by causing hyperandrogenism.
authors.affiliation: Center for Translational Medicine and Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing 210093, PR China.
authors.forename: Yanjie
authors.initials: Y
authors.lastname: Xia
authors.forename: Yena
authors.initials: Y
authors.lastname: Che
authors.forename: Xinlin
authors.initials: X
authors.lastname: Zhang
authors.forename: Chengwei
authors.initials: C
authors.lastname: Zhang
authors.forename: Yunxia
authors.initials: Y
authors.lastname: Cao
authors.forename: Wenjun
authors.initials: W
authors.lastname: Wang
authors.forename: Pei
authors.initials: P
authors.lastname: Xu
authors.forename: Xiaoke
authors.initials: X
authors.lastname: Wu
authors.forename: Long
authors.initials: L
authors.lastname: Yi
authors.forename: Qian
authors.initials: Q
authors.lastname: Gao
authors.forename: Yong
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000328:Adult; D000483:Alleles; D005091:Exons; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D011944:Receptors, Androgen