Lv Yue, Sun Changfa, Tian Ye, Zhao Shigang, Bian Yuehong, Cheng Lei, Sun Mei, Liu Hong-Bin, Zhao Han, Ma Jinlong
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.
J Assist Reprod Genet. 2017 May;34(5):677-682. doi: 10.1007/s10815-017-0905-7. Epub 2017 Mar 15.
This study aims to ascertain whether an association exists between hepatocyte nuclear factor 1 alpha (HNF1A) and polycystic ovary syndrome (PCOS).
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.
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).
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.
本研究旨在确定肝细胞核因子1α（HNF1A）与多囊卵巢综合征（PCOS）之间是否存在关联。
从山东大学附属生殖医院招募了1138例PCOS患者和1125例健康对照汉族女性。本研究从外周血中获取血清激素、血脂水平和基因组DNA。使用Sequenom MassARRAY系统对位于HNF1A基因中的两个单核苷酸多态性（SNP）——rs2393791和rs7305618进行基因分型。
在调整年龄和BMI后，PCOS患者和对照组之间SNP rs7305618的等位基因频率存在显著差异（p = 0.023）。此外，在调整年龄和BMI后，携带rs7305618 CC基因型的PCOS患者的睾酮水平高于携带CT + TT基因型的患者（p = 0.019）。
位于HNF1A基因中的一个SNP与汉族女性的PCOS相关。这表明HNF1A基因的变异可能会增加PCOS的发病风险。
