新疆阿克苏地区维族人1p13．3rs12740374、rs646776和rs599839与心肌梗死的关系  

Study of association between rs12740374, rs646776 and rs599839 in p13. 3 region and myocardial infarction on the Uygur population in Aksu area of Xinjiang

作　　者：戴慧蓉[1] 李佳[1] 赵炜[2] 王娟[1] 蔺丽慧[1] 肖辉[1] 彭霞[1] 刘亚楠[1] 李飞[1] 李莉[1] 

机构地区：[1]上海交通大学附属第一人民医院检验科,200080 [2]新疆阿克苏地区第一人民医院检验科

出　　处：《中华检验医学杂志》2013年第6期511-515,共5页Chinese Journal of Laboratory Medicine

基　　金：上海市科委基础处重点项目（11JC1410300）;国家自然基金项目（81072448）;国家自然基金项目（81273276）

摘　　要：目的探讨1p13．3rs12740374，m646776和rs599839单核苷酸多态性与心肌梗死发生及患者血脂水平的关系。方法本研究属于病例对照研究。选取新疆阿克苏地区维族心肌梗死患者150例和健康维族人123名，通过高温连接酶检测法（PCR—LDR）检测rs12740374，rs646776和rs599839位点基因型。同时，检测病例组样本血脂水平，分析其与患者基因型的关联。采用χ2检验及Fisher确切概率法分析。结果病例与对照组间m12740374（χ2=5．65，P〈0．05）、rs646776（χ2=4．88，P〈0．05）和rs599839（χ2=5．1，P〈0．05）的等位基因频率差异均有统计学意义，在显性突变模式下m12740374GG与GT＋rrr（χ2=5．01，P〈0．05），rs646776AA与AG＋GG（χ2=4．50，P〈0．05）和rs599839AA与AG＋GG（χ2=4．00，P〈0．05）基因型频率差异均有统计学意义，采用Logistic回归矫正性别及血脂等因素后差异仍有统计学意义（P〈0．05），携带m599839位点不同基因型的患者总胆固醇水平间差异有统计学意义（χ2=6．25，P〈0．05）。结论rs12740374，rs646776和rs599839位点可能与维族人群心肌梗死发病有关，rs599839位点基因型可能与总胆固醇水平有关。Objective To investigate the association between single nucleotide polymorphisms （SNPs） in lp13.3 region （rs12740374, rs646776 and rs599839） with myocardial infarction and blood lipid levels in Uygur population. Methods There is a case-control study with 150 myocardial infarction patients and 123 healthy controls who were selected in Aksu area of Xinjiang. The polymorphisms of rs12740374, rs646776 and rs599839 were genotyped by the PCR-LDR method. Meanwhile, blood lipid levels were detected and observed in patients with different genotypes.χ2 analysis and Fisher exact probability test were used. Results These three SNPs rs12740374 （χ2 = 5.65, P 〈 0.05 ）, rs646776 （χ2 = 4. 88, P 〈 0.05 ） and rs599839 （X2 = 5.1, P 〈 0. 05 ） were significantly associated with myocardial infarction. Under the dominant mode, the frequencies of genotypes of rs12740374 GG and GT ＋ TT（χ2 = 5.01, P 〈 0.05 ）, rs646776AA and AG ＋ GG （χ2= 4. 50, P 〈 0.05）, rs599839AA and AG ＋ GG （χ2= 4. 00, P 〈 0.05 ） were statistically significant. The association remained significant even after adjustment for sex and blood lipid levels by Logistic regression analysis （ P 〈 0. 05 ） . Additionally, rs599839 was associated with total cholesterol levels in MI patients （χ2 = 6. 25, P 〈 0. 05 ） . Conclusions rs12740374, rs646776 and rs599839 may associate with myocardial infarction in Uygur population. The genotype of rs599839 may have relationship with total cholesterol levels.

关 键 词：心肌梗死 多态性 单核苷酸 胆固醇 疾病遗传易感性 

分 类 号：R473.5[医药卫生—护理学]