富含半胱氨酸蛋白CNN1基因多态性与冠心病发病易感性的研究  

The association between polymorphism of cysteine-rich CNN1 gene and susceptibility of coronary artery disease

作　　者：罗俊一[1] 李艳红[2] 田婷 刘芬 李晓梅[1] 杨毅宁[1] LUO Junyi;LI Yanhong;TIAN Ting;LIU Fen;LI Xiaomei;YANG Yining(Center of Heart Coronary Artery Disease,Academy of Clinical Medicine,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China;Medical Laboratory Center,Academy of Clinical Medicine,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China;Department of Scientific Research Base,Academy of Clinical Medicine,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院心脏中心冠心病一科,乌鲁木齐830054 [2]新疆医科大学第一附属医院检验中心,乌鲁木齐830054 [3]新疆医科大学第一附属医院临床医学研究院科研基地科,乌鲁木齐830054

出　　处：《新疆医科大学学报》2021年第1期12-17,共6页Journal of Xinjiang Medical University

基　　金：国家自然科学基金(81770363,81800320);新疆维吾尔自治区自然科学基金(2020D01C259)。

摘　　要：目的探索富含半胱氨酸蛋白CNN1基因rs954353、rs3753794和rs6576776位点多态性在冠心病发病中的易感性。方法以2015年1月-2018年12月新疆医科大学第一附属医院心脏中心收治的620例冠心病患者为研究对象,以同期614例健康体检者为对照组。采用SNPscanTM分型技术对CCN1基因rs954353、rs3753794和rs6576776三个位点进行基因分型,探索CCN1基因与冠心病易感性的关系。结果冠心病组rs3753794位点AA基因型频率显著高于对照组(13.1%vs 8.3%,P=0.024),A等位基因频率也高于对照组(35.6%vs 31.6%,P=0.033)。rs6576776位点,冠心病组CC基因型频率显著高于对照组(6.3%vs 4.4%,P=0.015)。连锁不平衡分析发现rs954353和rs6576776位于一个单体型区域,存在遗传连锁不平衡。冠心病组A-A-G单倍体型分布频率显著高于健康对照组(35.5%vs31.3%,P=0.029)。排除冠心病传统危险因素的影响后,rs3753794位点AA基因型是冠心病发病的独立危险因素,与GA或GG携带者相比,携带AA基因型的者患冠心病增加1.613倍(OR=1.613,95%CI:1.014-2.567,P=0.044)。结论CCN1基因rs3753794位点AA基因型是冠心病发病的易感因素,提示CCN1基因具有作为冠心病发病易感性潜在的生物标志物。Objective To investigate the association between CNN1 gene polymorphism(rs954353,rs3753794,rs6576776)and the susceptibility of coronary artery diseases(CAD).Method:A total of 620 patients with CAD admit⁃ted to the Heart Center of the First Affiliated Hospital of Xinjiang Medical University were taken as the case subjects,and 614 healthy physical examination individuals were taken as the control group in the same period.UsingSNPscanTM typing technology,genotyping was performed on three sites of CCN1 gene,rs954353,rs3753794 and rs6576776,to investigate the relationship between CCN1 gene and susceptibility of CAD.Results The frequency of rs3753794 AA genotype in CAD group was significantly higher than that in control group(13.1%vs 8.3%,P=0.024),and the frequency of A allele in case group was also significantly higher than that in controls(35.6%vs 31.6%,P=0.033).For rs6576776,the CC genotype frequency in CAD patients was significantly higher than that in controls(6.3%vs 4.4%,P=0.015).With the analyze of the linkage disequilibrium,there was a linkage disequilibrium between rs954353 and rs6576776,which located the same haplotype.There is a significant higher distribution of A-A-G haplo⁃type in CAD group than that in control group(35.5%vs 31.3%,P=0.029).After excluding the influence of traditional risk factors of CAD,the AA genotype of CCN1 gene rs3753794 is an independent risk factors for CAD comparing for the GA or GG genotype carrier(OR=1.613,95%CI:1.014-2.567,P=0.044).Conclusion:CCN1 gene rs3753794 AA genotype may be associated with the susceptibility of CAD,which indicates that CCN1 gene maybe a potential bio⁃marker for the susceptibility of CAD.

关 键 词：CNN1基因 多态性 冠心病 易感性 危险因素 

分 类 号：R541[医药卫生—心血管疾病]