云南汉族ATP2B1基因标签SNPs与原发性高血压的关系

Association of tag SNPs in the ATP2B1 gene with essential hypertension in Han population from Yunnan Province

目的探讨I型细胞膜钙离子转运酶（ATP281）基因标签单核苷酸多态（SNPs）与云南汉族原发性高血压（EH）的相关性。方法用聚合酶链式反应-限制性片段长度多态性方法，检测1020例云南汉族人（EH组和对照组各510例）A凇B1基因12个标签SNPs（rs10506974、m10506975、rs2854371、rs957525、rs3741895、rs2681472、rs2070759、rs12423192、rs1050395、rs11105357、rs11105358和m7975689）和ATP2B1基因附近区域的rs17249754位点的多态性。结果rs17249754位点基因型和等位基因频率在EH组和对照组间的分布均具有显著性差异（P〈0．01），Logistic回归分析发现，rs17249754位点AA基因型和A等位基因使EH患病风险显著性降低（OR=0．60，95％C10．40～0．89，校正P〈0．05；OR：0．73，95％C10．60～0．88，校正P〈0．01）。结论ATP281基因附近区域rs17249754位点与云南汉族人群EH相关，rs17249754A等位基因可能是降低云南汉族EH风险的保护因子。

Objective To identify the association of tag single nucleotide polymorphisms （tag SNPs） of plasma membrane calcium transporting ATPasel （ATP2B1） gene with essential hypertension （EH） in Hart population from Yunnan. Methods A case-control study was carried out. Twelve tag SNPs （rs10506974, rs10506975, rs2854371, rs957525, rs3741895, rs2681472, rs2070759, rs12423192, rs1050395, rs11105357, rs11105358 and rs7975689） and rs17249754 near the ATP2B1 gene were genotyped in 510 patients with EH and 510 healthy controls using polymerase chain reaction-restriction fragment length polymorphism method （PCR-RFLP）. Results The genotype and allele distributions of rs17249754 between the case subjects and controls had significant differ- ence （P 〈 0. 01 ）, and Logistic regression analysis showed that AA genotype and A allele reduced the risk of EH （OR=0.60, 95% CI0.40～0.89, P〈0.05; OR=0.73, 95% CI 0. 60～ 0. 88 , P〈0.01）. Conclusions The rs17249754 near the ATP2B1 gene is a potential genetic marker for EH and A allele may be a protective factor for EH in Han population.