骨形态发生蛋白-7基因变异与新疆维吾尔族老年人原发性高血压相关

 目的 探讨骨形态发生蛋白-7（BMP7）基因变异与新疆维吾尔族人高血压的关系。 方法 测序筛查BMP7基因功能区变异位点，选取代表性变异应用TaqMan-PCR技术在1446例维吾尔族人中进行基因型鉴定并开展病例-对照关联研究。 结果 在BMP7基因功能区共发现5个新的和8个已知的变异位点。BMP7基因rs60254222、rs17480735变异符合Hardy-Weinberg平衡。在高血压及对照组中rs17480735变异的GG、GA和AA基因型频率分布有差异（P<0.05）。年龄≥50岁人群中携带rs17480735变异GG型人群收缩压、舒张压、平均动脉压水平均低于GA+AA基因型组（P<0.05）。应用Logistic 回归分析校正性别、年龄、体重指数、吸烟及饮酒等影响因素后显示，在年龄≥50岁人群中rs17480735变异与高血压相关（P<0.05）。结论 BMP7基因变异位点rs17480735可能与新疆维吾尔族年龄≥50岁人群高血压相关。

The genetic variations of the bone morphogenetic protein 7 gene is associated with essential hypertension in Xinjiang old uygur population

Objective To analyze the association between the genetic variations of functional region in bone morphogenetic protein(BMP7)gene and hypertension in Chinese Uygur individuals.Methods The all exons,segmental introns and the promoter regions of BMP7 gene were sequenced in 48 Uygur Chinese.Representative variations were selected according to the minor allele frequency(MAF) and linkage disequilibrium and genotyped using the TaqMan polymerase chain reaction method in 1446 Uygur Chinese and a case-control study w...