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目的分析高海拔地区汉族人群6号染色体的4个相关单核苷酸多态性(SNPs)位点(rs12524865、rs7767084、rs9349379、rs1801693)的等位基因频率、基因型频率与心肌梗死(MI)的相关性。方法检测500例云南省高海拔地区汉族MI患者(A组)和350例非冠状动脉粥样硬化性心脏病(CHD)患者(B组)6号染色体的4个相关SNPs位点,分析MI与6号染色体SNPs变化的相关性。结果 6号染色体的4个相关SNPs的基因型在两组中均达到遗传平衡(P>0.01)。A组rs12524865AA基因型分布频率和A等位基因频率低于B组(P<0.05),而rs7767084CC、CT基因型分布频率和C’等位基因频率高于B组(P<0.05)。在加性模型下,rs12524865与MI相关,A等位基因能降低MI的患病风险[OR=0.81,95%CI(0.65~0.99),P=0.046],rs7767084C等位基因能增加MI的患病风险[OR=1.30,95%CI(1.03~1.65),P=0.028];在显性模型下,rs7767084与MI相关,C等位基因能增加MI的患病风险[OR=1.37,95%CI(1.01~1.85),P=0.042];在隐性模型下,rs12524865与MI相关,A等位基因能降低MI的患病风险[OR=0.64,95%CI(0.44~0.92),P=0.016]。结论rs12524865和rs7767084位点的多态性变异与云南省高海拔地区汉族人群MI遗传易感性相关;rs7767084C等位基因能增加MI的患病风险,而rs12524865A等位基因能降低MI的患病风险。
Objective To analyze the allele frequency, genotype frequency and myocardial infarction (MI) of four related SNPs (rs12524865, rs7767084, rs9349379, rs1801693) on chromosome 6 of Han nationality in high altitude areas, Relevance. Methods Four SNPs related to chromosome 6 in 500 MI patients (group A) and 350 non-coronary atherosclerotic heart disease (CHD) patients in high altitude area of Yunnan Province (group B) were detected. MI and Correlation of SNPs on Chromosome 6. Results The genotypes of 4 related SNPs on chromosome 6 reached the genetic balance in both groups (P> 0.01). The frequencies of rs12524865AA genotype and A allele in group A were lower than those in group B (P <0.05), while those of rs7767084CC, CT genotype and C allele were higher in group A than those in group B (P <0.05). In the additive model, rs12524865 was associated with MI, with the A allele reducing the risk of MI [OR = 0.81, 95% CI (0.65-0.99), P = 0.046]. The rs7767084C allele increased MI In the dominant model, rs7767084 was associated with MI, and the C allele increased the risk of MI [OR = 1.37, 95% CI: 1.03-1.65, P = 0.028] CI (1.01 ~ 1.85), P = 0.042]. In the recessive model, rs12524865 was associated with MI, and allele A decreased the risk of MI [OR = 0.64,95% CI 0.44-0.92, P = 0.016]. Conclusion The polymorphisms of rs12524865 and rs7767084 loci are associated with genetic susceptibility to MI in high-altitude Han population in Yunnan Province. Rs7767084C allele increases the risk of MI, while rs12524865A allele decreases the risk of MI.