桂北地区汉族人乳脂球表皮生长因子8遗传多态性与冠心病的相关性

Correlation between milk fat globule epidermal growth factor 8 genetic polymorphism and coronary heart disease in Han people in northern Guangxi

目的探讨桂北地区汉族人乳脂球表皮生长因子8(MFG-E8)基因单核苷酸多态性与冠心病(CHD)的相关性。方法选取158例桂北地区汉族CHD患者为CHD组,以年龄和性别与之匹配的183例同期健康体检者为对照组。采用酶联免疫吸附法检测CHD组和对照组血清MFG-E8水平;采用限制性片段长度多态性聚合酶链反应技术和DNA直接测序法检测MFG-E8基因rs1878326和rs4945位点基因型;同时分析CHD组相关位点基因型与血清MFG-E8水平的关系。结果CHD组血清MFG-E8水平为1.63(1.31,2.04)μg/L,对照组为3.29(2.89,3.59)μg/L,CHD组明显低于对照组(Z=-15.370,P<0.001)。CHD组MFG-E8基因rs4945 C>A位点CA基因型频率为31.6%,A等位基因频率为15.8%,均高于对照组(18.6%、9.3%),差异有统计学意义(P<0.05)。rs4945 C>A位点CA基因型患CHD的风险比CC基因型增大(OR=2.029,95%CI:1.229~3.349),A等位基因患CHD的风险比C等位基因增大(OR=1.835,95%CI:1.153~2.921)。CHD组rs4945 C>A位点不同基因型血清MFG-E8水平比较差异无统计学意义(Z=-1.580,P=0.114)。rs1878326 C>A位点的基因型及等位基因频率与CHD不具有相关性(P>0.05)。结论桂北地区汉族人CHD患者血清MFG-E8水平明显低于正常人,MFG-E8基因rs4945 C>A多态性位点与CHD具有相关性。

Aim To investigate the correlation between milk fat globule epidermal growth factor 8(MFG-E8)gene single nucleotide polymorphism and coronary heart disease(CHD)in Han people in northern Guangxi.Methods A total of 158 CHD patients of Han nationality in northern Guangxi were selected as CHD group,and 183 age-and gender-matched healthy subjects were selected as control group.Serum MFG-E8 levels in CHD group and control group were detected by enzyme-linked immunosorbent assay.Genotypes of MFG-E8 gene rs1878326 and rs4945 loci were detected by restriction fragment length polymorphism polymerase chain reaction and DNA direct sequencing.At the same time,the relationship between the genotypes of related loci and serum MFG-E8 levels was analyzed in CHD group.Results The serum MFG-E8 level in CHD group was 1.63(1.31,2.04)μg/L,and that in control group was 3.29(2.89,3.59)μg/L.The serum MFG-E8 level in CHD group was significantly lower than that in control group(Z=-15.370,P<0.001).The frequency of CA genotype at rs4945 C>A locus of MFG-E8 gene in CHD group was 31.6%,and the frequency of A allele was 15.8%,which were higher than those in control group(18.6%,9.3%),and the difference was statistically significant(P<0.05).rs4945 C>A locus CA genotype had higher risk of CHD than CC genotype(OR=2.029,95%CI:1.229~3.349),and A allele had higher risk of CHD than C allele(OR=1.835,95%CI:1.153~2.921).There was no significant difference in serum MFG-E8 levels between different genotypes at rs4945 C>A locus in CHD group(Z=-1.580,P=0.114).There was no correlation between the genotype and allele frequency of rs1878326 C>A locus and CHD(P>0.05).Conclusion The serum MFG-E8 level of CHD patients of Han nationality in northern Guangxi is significantly lower than that of normal people,and the rs4945 C>A polymorphism of MFG-E8 gene is associated with CHD.