染色体9p21上rsl333049单核苷酸多态性与新疆维吾尔族及汉族心肌梗死的相关性分析

目的探讨染色体9p21上rsl333049基因多态性在新疆维吾尔族（维族）和汉族心肌梗死患者中的分布特征。方法227例心肌梗死患者（梗死组）（维族115例，汉族112例）和192例冠状动脉造影正常者为对照组（维族92例，汉族100例），应用TaqMan单核苷酸多态性基因分型方法进行基因分型，比较维、汉族梗死组和对照组rsl333049基因型频率和等位基因频率的分布情况。结果维、汉族梗死组rsl333049位点基因型分布频率与对照组比较差异有统计学意义（P〈0．05）；维族梗死组等位基因分布频率与对照组比较差异有统计学意义（P〈0．05），汉族梗死组等位基因分布频率与对照组比较差异无统计学意义（P〉0．05）；维、汉族梗死组rsl333049位点CC与CG基因型分布频率高于对照组（P〈0．05）；梗死组维族CC与CG基因型分布频率高于汉族（P〈0．05），维族C与G等位基因与汉族比较差异有统计学意义（P＜0．05）；Logistic回归分析显示，rsl333049的CC表型是新疆维、汉族心肌梗死的独立危险因素。结论染色体9p21的rsl333049位点CC与CG基因型为维族心肌梗死的易感相关危险基因型；C等位基因为维族心肌梗死患者患病的危险等位基因。

Correlation between rs1333049 single nucleotide polymorphism on chromosome 9p21 and myocardial infarction in Xinjiang Uygur and Han patients

Objective To investigate distribution features of rs1333049 single nucleotide polymorphism on chromosome 9p21 on myocardial infarction in Xinjiang Uygur and Han patients. Methods TaqMan SNP genotyping method was used for genotyping in 227 cases of myocardial infarction （MI group） （115 Uygur patients and 112 Han patients）, and 192 cases of normal coronary angiographic results （92 Uygur patients and 100 Han patients） to compare the frequencies of rs1333049 single nucleotide polymorphism and alleles between Uygur and Han patients in two groups. Results There was a significant difference in the frequency of genotype between Uygur and Han patients （P〈0.05）. There was a significant difference in allele frequency in Uygur patients between two groups （P〈0.05）, and was no significant difference in allele frequency in Han patients between two groups （P〉.05）. The frequencies of rs1333049 locus CC and CG genotypes were higher in Uygur patients than those in Han patients （P〈0.05）, and were higher in Uygur patients than those in Han patients in MI group （P〈0.05）. There was a significant difference in C and O allele between Uygur and Han patients （P〈0.05）. Logistic regression analysis showed that rs1333049 CC phenotype was an independent risk factor of myocardial infarction in Xinjiang Uygur and Han patients. Conclusion The chromosome 9p21 locus rst333049 CC and CO genotypes are relative risk factors of myocardial infarction susceptible genotypes of Xinjiang Uygur patients. C allele is a risk allele of myocardial infarction in Uygur patients.