title: Family-based analysis of INSR polymorphisms in Chinese PCOS.
abstract: The insulin receptor (INSR), which is an indispensable component of the insulin-signalling pathway, could be a plausible candidate gene for polycystic ovary syndrome (PCOS). This study was designed to determine whether an association exists between three SNP variants (rs3786681, rs17253937 and rs2252673) of the INSR gene and PCOS in Han Chinese. A total of 224 family trios (672 participants in total) were enrolled in this family-based transmission disequilibrium test. Genotypes were obtained by sequencing. A weak association was detected in rs2252673 (P = 0.027), which indicated that INSR may confer an increased susceptibility to PCOS in Chinese. Additionally, the association between INSR gene variants and clinical and metabolic characteristics of women with PCOS was investigated. Carriers of the CG and GG genotypes in women with PCOS were slightly associated with higher cholesterol concentration (t = 2.072, P = 0.048) and lower high-density lipoprotein cholesterol concentration (t = 2.274, P = 0.026). The minor allele conferred increased odds of PCOS independently of body mass index. The present data may provide a basis for further studies of the role of the INSR in the aetiology of PCOS.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, 250021 Jinan, China; Department of Gynecology and Obstetrics, Liaocheng People's Hospital, Shandong Province, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Du
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, 250021 Jinan, China.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong University, China.
authors.forename: Xuedong
authors.initials: X
authors.lastname: Sun
authors.affiliation: Department of Gynecology and Obstetrics, Liaocheng People's Hospital, Shandong Province, China.
authors.forename: Xinghua
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Gynecology and Obstetrics, Dongying People's Hospital, Shandong Province, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Gynecology and Obstetrics, Liaocheng People's Hospital, Shandong Province, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, 250021 Jinan, China. Electronic address: shiyuhua2003@126.com.
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, 250021 Jinan, China.
authors.forename: Zi-jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D002681:China; D017931:DNA Primers; D005006:Ethnicity; D005190:Family; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D017931:DNA Primers; C435941:INSR protein, human; D011972:Receptor, Insulin
keywords: insulin receptor; polycystic ovary syndrome; single-nucleotide polymorphism; transmission disequilibrium test