PNPLA2基因多态性与中国汉族2型糖尿病患者缺血性脑卒中的相关性研究

doi:10.12092/j.issn.1009-2501.2020.06.009

中国临床药理学与治疗学 ›› 2020, Vol. 25 ›› Issue (6): 664-669.doi: 10.12092/j.issn.1009-2501.2020.06.009

PNPLA2基因多态性与中国汉族2型糖尿病患者缺血性脑卒中的相关性研究

赵海玲¹, 张浩军¹, 赵婷婷¹, 严美花¹, 董晞¹, 马亮², 李平¹

¹中日友好医院,临床医学研究所,免疫炎性疾病北京市重点实验室,北京 100029;
²中日友好医院检验科,北京 100029

收稿日期:2020-06-05 出版日期:2020-06-26 发布日期:2020-07-09
通讯作者: 马亮,男,博士,副研究员,研究方向:医学遗传学。Tel: 010-84206141 E-mail: liangma321@aliyun.com;李平,女,博士,主任医师/研究员,研究方向:糖尿病及其并发症的临床与基础研究。Tel: 010-84205272 E-mail: lp8675@163.com
作者简介:赵海玲,女,博士,助理研究员,研究方向:糖尿病及其并发症的临床与基础研究。Tel:010-84206141 E-mail:zhly0167@163.com
基金资助:
北京市自然科学基金项目(7192191);国家自然科学基金国际(地区)合作与交流项目(81620108031)

Association between the polymorphism of PNPLA2 gene and the risk of ischemic stroke in type 2 diabetic patients in Chinese Han Population

ZHAO Hailing¹, ZHANG Haojun¹, ZHAO Tingting¹, YAN Meihua¹, DONG Xi¹, MA Liang², LI Ping¹

¹ Beijing Key Lab of Immune-Mediated Inflammatory Diseases, Institute of Clinical Medical Science, China-Japan Friendship Hospital, Beijing 100029, China;
² Clinical Laboratory, China-Japan Friendship Hospital, Beijing 100029, China

Received:2020-06-05 Online:2020-06-26 Published:2020-07-09

摘要/Abstract

摘要： 目的: 探讨脂肪甘油三酯脂酶基因PNPLA2 rs1138693(T>C,L481P)多态性与中国汉族人群2型糖尿病患者缺血性脑卒中发生风险的相关性。方法: 病例对照研究共纳入368例中国2型糖尿病(type 2 diabetes mellitus, T2DM)患者(139例T2DM缺血性脑卒中患者和229例T2DM非缺血性脑卒中患者作为对照组),利用Taqman探针实时聚合酶链式反应TaqMan MGB Real-time PCR对PNPLA2 rs1138693(T>C)进行基因分型,并采用SPSS 20.0进行统计分析。结果: 对照组和缺血性脑卒中组患者临床资料中的年龄、性别、血压和同型半胱氨酸水平存在统计学差异(P<0.05)。缺血性脑卒中组患者PNPLA2 rs1138693位点的 CC基因型频率和C等位基因频率显著低于对照组(基因型频率:P=0.033;等位基因频率:P=0.011)。Logistic回归分析发现,在加性、显性和隐性遗传模型下,PNPLA2 rs1138693等位基因C是T2DM患者进展为缺血性脑卒中的保护因素(P<0.05)。结论: PNPLA2 rs1138693基因多态性与中国T2DM患者发生缺血性脑卒中的易感性有关,携带rs1138693 C等位基因的T2DM患者更不容易进展为缺血性脑卒中。

关键词: 2型糖尿病缺血性脑卒中, PNPLA2基因, 基因多态性

Abstract: AIM: To investigate the association between the polymorphism of the fatty triglyceride lipase gene (PNPLA2) rs1138693 (T>C) and the risk of ischemic stroke in type 2 diabetic patients in China. METHODS: A total of 368 Chinese patients with type 2 diabetes mellitus (T2DM) (139 T2DM ischemic stroke patients and 229 T2DM non-ischemic stroke patients were included as the control group) were included in this case-control study. PNPLA2 rs1138693 (T>C) was genotyped by real-time polymerase chain reaction (PCR) and statistically analyzed by SPSS 20.0. RESULTS: Significant differences were observed in age, sex, blood pressure and homocysteine levels between the control group and the ischemic stroke group (P<0.05). The CC genotype frequency and C allele frequency of PNPLA2 rs1138693 in the ischemic stroke group were significantly lower than those in the control group (genotype frequency: P=0.033; allele frequency: P=0.011). Logistic regression analysis revealed that allele C of PNPLA2 rs1138693 was a protective factor for progression to ischemic stroke in T2DM patients under the additive, dominant and recessive genetic models (P<0.05). CONCLUSION: The PNPLA2 gene rs1138693 is related to the susceptibility of Chinese T2DM patients to ischemic stroke, and the T2DM patients with allele C of rs1138693 are less likely to develop ischemic stroke.

Key words: ischemic stroke in type 2 diabetes mellitus, adipose triglyceride lipase gene, gene polymorphism

中图分类号:

R587.1

赵海玲, 张浩军, 赵婷婷, 严美花, 董晞, 马亮, 李平. PNPLA2基因多态性与中国汉族2型糖尿病患者缺血性脑卒中的相关性研究[J]. 中国临床药理学与治疗学, 2020, 25(6): 664-669.

ZHAO Hailing, ZHANG Haojun, ZHAO Tingting, YAN Meihua, DONG Xi, MA Liang, LI Ping. Association between the polymorphism of PNPLA2 gene and the risk of ischemic stroke in type 2 diabetic patients in Chinese Han Population[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2020, 25(6): 664-669.

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PNPLA2基因多态性与中国汉族2型糖尿病患者缺血性脑卒中的相关性研究

Association between the polymorphism of PNPLA2 gene and the risk of ischemic stroke in type 2 diabetic patients in Chinese Han Population

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