Yue Lv1,2,3, Changfa Sun1,2,3, Ye Tian1,2, Shigang Zhao1,2, Yuehong Bian1,2, Lei Cheng1,2, Mei Sun1,2, Hong-Bin Liu1,2,3, Han Zhao4,5, Jinlong Ma6,7. 1. Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China. 2. Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China. 3. 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. 4. Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China. hanzh80@yahoo.com. 5. Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China. hanzh80@yahoo.com. 6. Center for Reproductive Medicine, Shandong University, No.157, Jingliu Road, Jinan, 250021, China. majinlong123@hotmail.com. 7. Ministry of Education, The Key Laboratory of Reproductive Endocrinology, Shandong University, Jinan, China. majinlong123@hotmail.com.
Abstract
PURPOSE: 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.
PURPOSE: 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 PCOSpatients and controls after adjusting for age and BMI (p = 0.023). Besides, PCOSpatients 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.
Entities:
Keywords:
Genetic association study; HNF1A; Polycystic ovary syndrome; Single-nucleotide polymorphisms
Authors: M Geoffrey Hayes; Margrit Urbanek; David A Ehrmann; Loren L Armstrong; Ji Young Lee; Ryan Sisk; Tugce Karaderi; Thomas M Barber; Mark I McCarthy; Stephen Franks; Cecilia M Lindgren; Corrine K Welt; Evanthia Diamanti-Kandarakis; Dimitrios Panidis; Mark O Goodarzi; Ricardo Azziz; Yi Zhang; Roland G James; Michael Olivier; Ahmed H Kissebah; Elisabet Stener-Victorin; Richard S Legro; Andrea Dunaif Journal: Nat Commun Date: 2015-08-18 Impact factor: 14.919