MUTYH基因AluYb8插入变异与老年糖尿病患者左心室舒张功能减退的相关性分析  

Association of AluYb8 insertion in the MUTYH gene with the risk of decreased left ventricular diastolic function in elderly diabetic patients

作　　者：孙惠娴 孟洁 林玉双 赵璨 刘嘉莉 何慧薇 鲁翔 高伟 Sun Huixian;Meng Jie;Lin Yushuang;Zhao Can;Liu Jiali;He Huiwei;Lu Xiang;Gao Wei(Department of Geriatrics,Sir Run Run Hospital,Nanjing Medical University,Nanjing 211166,China;Department of Geriatrics,the First Affiliated Hospital of Kangda College,Nanjing Medical University,Lianyungang 222061,China)

机构地区：[1]南京医科大学附属逸夫医院老年医学科,南京211166 [2]南京医科大学康达学院第一附属医院老年医学科,连云港222061

出　　处：《中华老年医学杂志》2023年第3期297-302,共6页Chinese Journal of Geriatrics

基　　金：科技部国家重点研发计划(2020YFC2008500);国家自然科学基金(81970217、81970218)。

摘　　要：目的 探讨MUTYH基因AluYb8插入变异与老年人左心室舒张功能减退的相关性。方法 回顾性分析,选取老年左心室舒张功能减退患者498例(疾病组)及非左心室舒张功能减退者155例(对照组),采用聚合酶链反应鉴定MUTYH基因AluYb8插入缺失在样本中的分布情况,高分辨彩色多普勒超声仪测量心功能。结果 在疾病组,A/A、A/P、P/P 3种基因型频率分别为30.1%(150/498)、48.4%(241/498)、21.5%(107/498),对照组3种基因型频率分别为27.7%(43/155)、54.8%(85/155)、17.5%(27/155),两组基因型(χ^(2)=2.162,P=0.339)及等位基因(χ^(2)=1.342,P=0.794)频率分布差异均无统计学意义。进一步分层分析结果显示,老年糖尿病患者左心室舒张功能减退者和对照组基因型频率(χ^(2)=7.173,P=0.028)、等位基因频率(χ^(2)=8.352,P=0.015)分布差异具有统计学意义。多因素Logistic回归分析结果显示,老年糖尿病人群中,P等位基因携带者左心室舒张功能减退发病风险较未携带者高(OR=3.450,95%CI:1.148~10.372,P=0.027)。结论 MUTYH基因AluYb8插入变异可能与老年糖尿病患者左心室舒张功能减退具有相关性。Objective To explore the relationship between AluYb8 insertion in the MUTYH gene and the risk of decreased left ventricular diastolic function in the elderly.Methods In the retrospective analysis,498 elderly patients with decreased left ventricular diastolic function(the disease group)and 155 people without left ventricular diastolic function(the control group)were recruited.Polymerase chain reaction was employed to analyze the genotype distribution of AluYb8 insertion in MUTYH gene.Cardiac function was measured by high-resolution color Doppler ultrasound.Results The frequencies of the A/A,A/P and P/P genotypes were 30.1%(150/498),48.4%(241/498)and 21.5%(107/498)in patients with decreased left ventricular diastolic function,and 27.7%(43/155),54.8%(85/155)and 17.5%(27/155)in the control group,respectively.There were no significant differences in genotype(χ^(2)=2.162,P=0.339)and allele frequency(χ^(2)=1.342,P=0.794)between the two groups.Further analysis after stratification revealed that there were statistically significant differences in genotype(χ^(2)=7.173,P=0.028)and allele frequency(χ^(2)=8.352,P=0.015).Multivariate Logistic regression analysis showed that,in elderly patients with diabetes,P-allele carriers had a higher risk of decreased left ventricular diastolic function than non-carriers(OR=3.450,95%CI:1.148-10.372,P=0.027).Conclusions AluYb8 insertion in the MUTYH gene may be associated with the risk of decreased left ventricular diastolic function in the elderly with diabetes.

关 键 词：心室功能障碍 左 糖尿病 疾病遗传易感性 

分 类 号：R587.2[医药卫生—内分泌] R541[医药卫生—内科学]