成都汉族人群血脂异常与候选基因多态性关联研究

Association between dyslipidemia and candidate gene polymorphisms in a Han population at Chengdu

目的探讨与血脂相关候选基因(APOC1,CELSR2,BUD13)多态性与汉族成都地区人群血脂亚组分异常的相关性。方法将成都地区1900例受试者按TC、TG、LDL-C和HDL-C分为正常组和异常组;采用单碱基延伸测序法分别对rs17035630(CELSR2基因),rs4420638(APOC1基因),rs11556024(BUD13基因)进行基因分型。结果 rs17035630(A/G)等位基因分布在LDL-C两组间差异有统计学意义(χ~2=6.568,P=0.010);多因素Logistic回归分析显示,rs17035630 A等位基因携带者对增高LDL-C的风险是G等位基因的1.396倍(OR=1.396,95%CI:1.145~1.697,P=0.001)。结论 CELSR2基因多态性与血脂亚组份LDL-C异常有关。

Objective To investigate the association between candidate single nucleotide polymorphisms（SNPs） of candidate genes（ APOC1, CELSR2 and BUD13） and blood lipid subfraction abnormalities in a Han population of Chengdu. Methods One thousands and 9 hundred participates were divided into normal and abnormal groups according to concentrations of TC,TG, LDL-C or HDLC. The ABI SNaPshotTM method was used to genotype rs17035630 in CELSR2, rs4420638 in APOC1 and rs11556024 in BUD13. Re- suits The allele frequencies of rs17035630 （G/A） was significantly different between high LDL cholesterol subjects and controls （X2 = 6. 568 ,P = 0. 010）. Multiple logistic regression analysis showed that subjects who carry an A allele at rs17035630 had higher risk to have high LDL cholesterol when compared to those carrying a G allele（ OR = 1. 396,95% CI ： 1. 145 - 1. 697 ,P = 0. 001 ）. Conclusion Our study indicates a possible association between CELSR2 gene polymorphism and LDL cholesterol dyslipidemia.