Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.
Clin Biochem. 2013 Jun;46(9):760-5. doi: 10.1016/j.clinbiochem.2012.12.021. Epub 2013 Jan 11.
The Golgi SNAP receptor complex member 2 (GOSR2) gene is a Golgi-associated soluble factor attachment receptor (SNARE) protein involved in intra-Golgi protein trafficking on chromosome 17q21, which is the hypertension linkage peak on the human chromosome. The aim of the present study was to assess the association between the human GOSR2 gene and essential hypertension (EH) using a haplotype-based case-control study.
A total of 320 EH patients and 205 age-matched controls were genotyped for the five single-nucleotide polymorphisms (SNPs) used as genetic markers for the human GOSR2 gene (rs197932, rs3785889, rs197922, rs17608766, and rs16941382). Data were analyzed for three separate groups: the total subjects, men, and women.
The overall distribution of the haplotypes in men was significantly different between the EH patients and the control subjects (P=0.002). Additionally, the frequency of the T-A-G haplotype (rs197932-rs3785889-rs197922) for men was significantly higher in the EH patients than in the control subjects (P=0.049). After adjustment for the major risk factors, multiple logistic regression analysis also revealed that the frequency of men with the T-A-G haplotype (homozygous and heterozygous diplotypes) was significantly higher than that in men without the haplotype (OR=1.756, P=0.039).
The results of this study indicate that the T-A-G haplotype may be a useful genetic marker for EH in Japanese men.
高尔基 SNAP 受体复合物成员 2（GOSR2）基因是一种与高尔基体相关的可溶性因子附着受体（SNARE）蛋白，参与染色体 17q21 上的内高尔基体内蛋白运输，该基因是人类染色体上高血压连锁峰。本研究旨在通过基于单倍型的病例对照研究评估人类 GOSR2 基因与原发性高血压（EH）之间的关联。
共对 320 例 EH 患者和 205 名年龄匹配的对照者进行了人类 GOSR2 基因（rs197932、rs3785889、rs197922、rs17608766 和 rs16941382）的 5 个单核苷酸多态性（SNP）的基因分型。对总人群、男性和女性进行了三组数据的分析。
男性EH 患者与对照组的总体单倍型分布存在显著差异（P=0.002）。此外，EH 患者中 T-A-G 单倍型（rs197932-rs3785889-rs197922）的频率明显高于对照组（P=0.049）。调整主要危险因素后，多因素逻辑回归分析也显示，具有 T-A-G 单倍型（纯合和杂合二倍体）的男性频率明显高于无单倍型的男性（OR=1.756，P=0.039）。
本研究结果表明，T-A-G 单倍型可能是日本男性 EH 的一个有用的遗传标记。
