A haplotype of the GOSR2 gene is associated with essential hypertension in Japanese men.

Objectives: 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.

Methods: 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.

Results: 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).

Conclusions: The results of this study indicate that the T-A-G haplotype may be a useful genetic marker for EH in Japanese men.