Pan Shuo, Nakayama Tomohiro, Sato Naoyuki, Izumi Yoichi, Soma Masayoshi, Aoi Noriko, Ma Yitong, Hinohara Shigeaki, Doba Nobutaka
Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.
Genet Test Mol Biomarkers. 2013 Jun;17(6):481-8. doi: 10.1089/gtmb.2012.0379. Epub 2013 May 15.
The Golgi SNAP Receptor Complex Member 2 (GOSR2) gene is a Golgi-associated soluble factor attachment receptor (SNARE) protein. Some single-nucleotide polymorphisms (SNPs) in the GOSR2 gene have been found to be associated with myocardial infarction (MI). The aim of the present study was to assess the association between the human GOSR2 gene and MI using a haplotype-based case-control study.
A total of 238 MI patients and 284 controls were genotyped for the five 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 the total subjects and the men was significantly different between the MI patients and the control subjects (p=0.001, p=0.005, respectively). Additionally, the frequency of the T-G-G haplotype (rs197932-rs3785889-rs197922) for men was significantly lower in the MI patients than in the control subjects (p=0.040). Multiple logistic regression analysis also revealed that the frequency of the subjects with the T-G-G haplotype (homozygous and heterozygous diplotypes) was significantly lower compared with subjects without this haplotype in men after adjustment for the major confounding factors (odds ratio=0.455, p=0.041).
The results of this study indicate that the T-G-G haplotype may be a protective genetic marker for MI in Japanese men.
高尔基体可溶性 NSF 附着蛋白受体复合体成员 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。已发现 GOSR2 基因中的一些单核苷酸多态性（SNP）与心肌梗死（MI）相关。本研究的目的是使用基于单倍型的病例对照研究评估人类 GOSR2 基因与 MI 之间的关联。
对总共 238 例 MI 患者和 284 例对照进行基因分型，检测用作人类 GOSR2 基因遗传标记的 5 个 SNP（rs197932、rs3785889、rs197922、rs17608766 和 rs16941382）。对三个独立组的数据进行分析：总受试者、男性和女性。
MI 患者与对照受试者之间，总受试者和男性中单倍型的总体分布存在显著差异（分别为 p = 0.001，p = 0.005）。此外，男性中 T-G-G 单倍型（rs197932 - rs3785889 - rs197922）在 MI 患者中的频率显著低于对照受试者（p = 0.040）。多因素逻辑回归分析还显示，在调整主要混杂因素后，男性中具有 T-G-G 单倍型（纯合子和杂合子双倍型）的受试者频率与没有该单倍型的受试者相比显著降低（优势比 = 0.455，p = 约0.041）。
本研究结果表明，T-G-G 单倍型可能是日本男性 MI 的一种保护性遗传标记。
