CMA1基因标签单核苷酸多态与云南彝族原发性高血压的关联研究

Association of CMA1 gene tag single nucleotide polymorphisms with essential hypertension in Yi population from Yunnan

目的探讨糜蛋白酶（ehymase，CMA1）基因标签单核苷酸多态（tag single nucleotide polymorphism，tag SNPs）与云南彝族原发性高血压的关系。方法采用聚合酶链反应一限制性片段长度多态性方法，对303例高血压患者和312名对照个体进行4个tagSNPs（rs1956921、rs1800876、rs5244和rs1885108）位点的多态性检测。结果（1）CMA1基因4个tag SNPs位点等位基因和基因型在高血压组和对照组间的频率分布差异无统计学意义（P〉0．05）。（2）高血压组男性rs1956921C等位基因的频率显著高于对照组男性（P=0．009）。（3）由rs1956921和rs5244构建的单倍型C-T在高血压组男性中的频率显著高于对照组男性（P=0．009）。结论云南彝族人群中，rs1956921C等位基因以及由rs1956921和rs5244两个位点构建的单倍型C-T可能是男性原发性高血压发生的危险因子。

Objective To assess the association of tag single nucleotide polymorphisms （tag SNPs） of chymase gene （CMA1）with essential hypertension in Yi population from Yunnan, China. Methods A casecontrol study was carried out. Four tag SNPs （rs1956921, rs1800876, rs5244 and rs1885108） were genotyped in 303 patients with essential hypertension and 312 healthy controls using polymerase chain reaction - restriction fragment length polymorphism（PCR-RFLP） method. Results No significant difference in genotypic and allelic distributions of the four polymorphisms was detected between the two groups（P〉 0.05）, and the same results existed in the females. The frequencies of rs1956921 C allele and a C-T haplotype constructed with rs1956921 and rs5244 were greater in male patients compared with male controls （P〈0.01）. Conclusion The rs1956921 C allele of the CMA1 gene and the C-T haplotype constructed with rs1956921 and rs5244 may be risk factors for essential hypertension in ethnic Yi males from Yunnan.