Chen Bang-Dang, Chen Xiao-Cui, Pan Shuo, Yang Yi-Ning, He Chun-Hui, Liu Fen, Ma Xiang, Gai Min-Tao, Ma Yi-Tong
Xinjiang Key Laboratory of Cardiovascular Disease, Clinical Medical Research Institute of First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Oncotarget. 2017 Apr 18;8(16):26918-26926. doi: 10.18632/oncotarget.15851.
The aim of the study is to investigate the association between the human hepatocyte nuclear factor 4 gamma (HNF4G) gene and hyperuricemia in Chinese Han population. A total of 414 hyperuricemia patients and 406 gender and age-matched normouricemic controls were enrolled. Four single nucleotide polymorphisms were genotyped as genetic markers for the human HNF4G gene (rs2977939, rs1805098, rs2941484, rs4735692). Data were analyzed for two separate groups: men and women. For rs2941484, the genotype distribution frequency in hyperuricemic subjects and was significantly different from that in normouricemic controls in men (P = 0.038). Meanwhile, in recessive model of rs2941484, the distribution frequency of TT genotype and CC+CT genotypes also differed significantly between the hyperuricemia men and normouricemic men (P = 0.011). For the other 3 SNPs in both men and women, there was no difference in the genotype and allele and distribution frequency between the hyperuricemia patients and normouricemic controls. In men, after adjustments for BMI, SBP, DBP, fasting glucose, total cholesterol, triglycerides, low density lipoprotein cholesterol and creatinine, the men with the TT genotype of rs2941484 were found to have significantly higher probability of suffering from hyperuricemia than the ones with CT and CC genotypes (OR = 2.170, P < 0.001). Therefore, TT genotype of rs2941484 in the human HNF4G gene might be a gender-specific genetic marker for hyperuricemia in Chinese Han men.
本研究旨在探讨中国汉族人群中人类肝细胞核因子4γ(HNF4G)基因与高尿酸血症之间的关联。共纳入414例高尿酸血症患者和406例性别及年龄匹配的正常尿酸血症对照者。对人类HNF4G基因的四个单核苷酸多态性(rs2977939、rs1805098、rs2941484、rs4735692)进行基因分型作为遗传标记。数据分为男性和女性两个独立组进行分析。对于rs2941484,男性高尿酸血症患者的基因型分布频率与正常尿酸血症对照者的基因型分布频率有显著差异(P = 0.038)。同时在rs2941484的隐性模型中,高尿酸血症男性和正常尿酸血症男性的TT基因型和CC + CT基因型的分布频率也有显著差异(P = 0.011)。对于男性和女性的其他3个单核苷酸多态性,高尿酸血症患者与正常尿酸血症对照者之间的基因型、等位基因及分布频率均无差异。在男性中,校正体重指数、收缩压、舒张压、空腹血糖、总胆固醇、甘油三酯、低密度脂蛋白胆固醇和肌酐后,发现rs2941484的TT基因型男性患高尿酸血症的概率显著高于CT和CC基因型男性(OR = 2.170,P < 0.001)。因此,人类HNF4G基因中rs2941484的TT基因型可能是中国汉族男性高尿酸血症的性别特异性遗传标记。