RTEL1基因多态性与冠心病患病风险的相关性研究  

Association between Genetic Polymorphisms in RTEL1 and Risks of Coronary Heart Disease

作　　者：周芳[1] 王竹青 ZHOU Fang;WANG Zhuqing(Department of Vasculocardiology,the Second Affiliated Hospital of Xi'an Medical College,Xi'an 710038,China)

机构地区：[1]西安医学院第二附属医院心血管内科,西安710038 [2]中航工业西安医院心内科

出　　处：《解放军预防医学杂志》2017年第12期1540-1544,共5页Journal of Preventive Medicine of Chinese People's Liberation Army

基　　金：陕西省教育厅科学研究项目(No.12JK1032)

摘　　要：目的研究RTEL1基因多态性与冠心病(CHD)患病风险的相关性。方法选择2015年1月至2016年12月于西安医学院第二附属医院就诊的符合入选条件的CHD患者共300例,以及健康对照人群300例,分别采集血样。采用Mass ARRAY方法对RTEL1基因上rs6089953、rs6010620、rs6010621、rs4809324和rs2297441共五个位点的基因型进行测定,用SPSS 19.0软件统计基因多态性与CHD患病风险的相关性。结果采用χ2检验比较病例对照两组间各位点的等位基因频率差异,结果显示RTEL1基因上的rs6010620位点的等位基因"G"与降低冠心病患病风险具有相关性(OR=0.776,95%CI:0.649~0.928,P=0.005)。引入遗传模型后,结果显示rs6010620位点在隐性模型下,携带G/G基因型的个体患冠心病风险显著降低,是携带A/A和G/A基因型的0.49倍(OR=0.49,95%CI:0.30~0.80,P=0.0039);rs4809324在隐性模型下,携带C/C基因型的个体患冠心病风险显著降低,是携带T/T和T/C基因型的0.3倍(OR=0.30,95%CI:0.11~0.83,P=0.015);rs2297441在显性模型下,携带A/G和A/A基因型的个体患冠心病风险显著降低,是携带G/G基因型的0.62倍(OR=0.62,95%CI:0.43~0.91,P=0.014)。连锁不平衡分析发现,由rs6010620,rs6010621和rs4809324三个位点组成的GTT单体型与降低冠心病风险显著相关(OR=0.03,95%CI:0.01-0.12,P<0.0001),结论 RTEL1基因上rs6010620、rs4809324和rs2297441三个位点与降低冠心病患病风险显著相关。Objective To investigate the association between single nucleotide polymorphisms(SNPs)in RTEL1 and risks of coronary heart disease(CHD).Methods A total of 300 CHD patients treated in the Second Affiliated Hospital of Xi'an Medical College between January 2015 and December 2016 and another 300 healthy controls were enrolled in this study.Blood samples were collected.The genotypes of rs6089953,rs6010620,rs6010621,rs4809324 and rs2297441 were determined with MassARRAY method,and the association between SNPs and risks of CHD was evaluated by SPSS 19.0.Results When the allele frequencies of SNPs were compared between these patients and controls usingX2 test,it was found that the allele"G"of rs6010620 was significantly associated with a decreased risk of CHD(OR=0.776,95%CI:0.649~0.928,P=0.005).In the genetic model analysis,it was found that under the recessive model,carriers of rs6010620-G/G genotype showed a 0.49-fold decreased risk of CHD compared with carriers of A/A and G/A genotypes(OR=0.49,95%CI:0.30~0.80,P=0.0039),while carriers of rs4809324-C/C genotype showed a 0.3-fold decreased risk of CHD compared with carriers of T/T and T/C genotypes(OR=0.30,95%CI:0.11~0.83,P=0.015).Additionally,under the dominant model,carriers of A/G and A/A genotypes of rs2297441 showed a 0.62-fold decreased risk of CHD compared with carriers of G/G genotype(OR=0.62,95%CI:0.43~0.91,P=0.014).Finally,linkage disequilibrium(LD)analysis results showed that the haplotype GTT composed of rs6010620,rs6010621 and rs4809324 was associated with a decreased risk of CHD(OR=0.03,95%CI:0.01-0.12,P<0.0001).Conclusion rs6010620,rs4809324 and rs2297441 in RTEL1 are possibly associated with a decreased risk of CHD.

关 键 词：冠心病 RTEL1 单核苷酸多态性 关联分析 

分 类 号：R36[医药卫生—病理学] R4[医药卫生—基础医学]