程序性细胞死亡因子1基因单核苷酸多态性与中国扩张型心肌病的相关性研究  

Association of programmed cell death 1 gene polymorphisms with dilated cardiomyopathy in Chinese Han population

作　　者：杨浩[1] 彭瑛[1] 李娅姣[1] 付锴[1] 谢秋[1] 周斌[2] 饶莉[1] 

机构地区：[1]四川大学华西医院心内科,成都610041 [2]四川大学华西医院分子与转化医学实验室,成都610041

出　　处：《中华医学遗传学杂志》2014年第3期362-366,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81270289）,四川省国际合作与交流项目（2012HH0032）

摘　　要：目的研究程序性细胞死亡因子1基因（programmed cell death1，PDCD-1）单核苷酸多态性（single nucleotide polymorphisms，SNPs）与中国汉族人群扩张型心肌病（dilated eardiomyopathy，DCM）的相关性。方法应用聚合酶链反应-限制性片段长度多态性方法，对340例DCM患者及401名健康对照者PDCD-1基因rs2227981、rs2227982位点进行基因分型；分别比较两组间两个位点的基因型频率和等位基因频率的分布差异。结果DCM组PDCD-1基因rs2227982位点TT基因型和T等位基因频率明显高于正常对照组，差异具有统计学意义（分别为35．3％VS．23．4％，P〈O．01；58．5％VS．47．4％，P〈O．01），而rs2227981位点的基因型和等位基因频率在两组间分布的差异无统计学意义。结论PDCD-1基因rs2227982位点多态性与中国汉族人群DCM存在相关性，PDCD-1基因rs2227982位点TT基因型和T等位基因可能是汉族DCM的遗传易感基因位点。Objective To investigate the association between programmed death 1 （PDCD-1）gene polymorphism and dilated cardiomyopathy （DCM）. Methods Two single-nucleotide polymorphisms （SNPs） of the PDCD-1 gene, rs2227981, rs2227982, were genotyped and detected in 340 DCM patients and 401 healthy controls using the method of polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. The genotype frequencies and allele frequencies of SNPs were compared between DCM patients and normal controls. Results The genotype and allele distributions of rs2227982 were significantly different between the patients with DCM and the controls. The frequencies of TT genotype and T allele of rs2227982 were higher in the patients than those in the controls （35. 3% vs. 23.4%, P〈0. 01,OR=2.37, 95%CI： 1.57-3.57; 58.5% vs. 47.4%, P〈0.01, OR=1.58,95%CI： 1.28-1.93, respectively）. No association was observed for rs2227981 between the DCM patients and the controls. Conclusion rs2227982 in PDCD-1 gene has association with DCM in Chinese Han population, supporting PDCD-1 as a susceptibility gene for DCM. TT genotypes and T allele in rs2227982 may be associated with significantly increased risk of DCM.

关 键 词：程序性细胞死亡因子1基因 单核苷酸多态性 扩张型心肌病 

分 类 号：R542.2[医药卫生—心血管疾病]