6号染色体单核苷酸多态性与云南省高海拔地区汉族人群心肌梗死的相关性

Correlation of single nucleotide polymorphisms of chromosome 6 and myocardial infarction in Han population of Yunnan high altitude area

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 correlation of allele frequency and genotype frequency of four related single nucleotide polymorphisms（SNPs）（rs12524865,rs7767084,rs9349379 and rs1801693）in chromosome 6and myocardial infarction（MI）in Han population of Yunnan high altitude area.Methods The polymorphisms of the four sites of chromosome 6 were detected in the patients with MI（group A,500cases）and non-coronary atherosclerotic heart disease（group B,350cases）.The correlation of allele frequency and genotype frequency of four SNPs with MI was analyzed.Results The genotype of four related SNPs of chromosome 6reached the genetic balance in both two groups（P〉0.01）.The frequencies of rs12524865 AA genotype distribution and A allele were lower,rs7767084 CC,CT genotype distribution and C＇allele were higher in group A than those in group B（P〈0.05）.In the additive model,A allele of rs12524865 reduced the risk for MI[OR=0.81,95%CI（0.65-0.99）,P=0.046],C allele of rs7767084 increased the risk for MI[OR=1.30,95%CI（1.03-1.65）,P=0.028].In the dominant model,C allele of rs7767084 increased the risk for MI[OR=1.37,95%CI（1.01-1.85）,P=0.042].In the recessive model,A allele of rs12524865 reduced the risk for MI[OR=0.64,95%CI（0.44-0.92）,P=0.016].Conclusion The polymorphic variations of rs12524865 and rs7767084sites are related to the susceptibility to MI in Chinese Han population in Yunnan province.C allele of rs7767084 could increase the risk for MI and A allele of rs12524865 could reduce the risk for MI.