title: Association study of HNF1A in women with polycystic ovary syndrome.
abstract: OBJECTIVE
  This study aims to ascertain whether an association exists between hepatocyte nuclear factor 1 alpha (HNF1A) and polycystic ovary syndrome (PCOS).
  
  
  METHODS
  One thousand one hundred thirty-eight PCOS and 1125 healthy control Han Chinese women were recruited from Reproductive Hospital Affiliated to Shandong University. Serum hormone, blood lipid level, and genomic DNA were obtained from the peripheral blood for this research. Two single-nucleotide polymorphisms (SNPs)-rs2393791 and rs7305618-located in HNF1A were genotyped using the Sequenom MassARRAY system.
  
  
  RESULTS
  The allele frequencies of SNP rs7305618 had significant differences between PCOS patients and controls after adjusting for age and BMI (p = 0.023). Besides, PCOS patients carrying the rs7305618 CC genotype shown a higher testosterone level than the patients with CT + TT genotypes after being adjusted by age and BMI (p = 0.019).
  
  
  CONCLUSIONS
  A SNP located in the HNF1A gene is associated with PCOS among Han Chinese women. This suggested that variations in HNF1A might confer risk for PCOS.
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.|School of Biomedical Sciences, The Chinese University of Hong Kong-Shandong University Joint Laboratory on Reproductive Genetics, The Chinese University of Hong Kong, Hong Kong SAR, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Lv
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.|School of Biomedical Sciences, The Chinese University of Hong Kong-Shandong University Joint Laboratory on Reproductive Genetics, The Chinese University of Hong Kong, Hong Kong SAR, China.
authors.forename: Changfa
authors.initials: C
authors.lastname: Sun
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Tian
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.
authors.forename: Shigang
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.
authors.forename: Yuehong
authors.initials: Y
authors.lastname: Bian
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Cheng
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Sun
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China.|School of Biomedical Sciences, The Chinese University of Hong Kong-Shandong University Joint Laboratory on Reproductive Genetics, The Chinese University of Hong Kong, Hong Kong SAR, China.
authors.forename: Hong-Bin
authors.initials: HB
authors.lastname: Liu
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China. hanzh80@yahoo.com.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China. hanzh80@yahoo.com.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China. majinlong123@hotmail.com.|Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China. majinlong123@hotmail.com.
authors.forename: Jinlong
authors.initials: J
authors.lastname: Ma
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha
keywords: Genetic association study; HNF1A; Polycystic ovary syndrome; Single-nucleotide polymorphisms