核苷酸内焦磷酸酶磷酸二酯酶1基因K121Q多态性与2型糖尿病的相关性研究  

The relationship between ENPP1 gene K121Q polymorphism and type 2 Diabetes

作　　者：张杨[1] 艾智华[1] 游志清[1] 郎红梅[1] 梁春峰[2] 于志峰 

机构地区：[1]成都军区总医院内分泌科,四川成都610000 [2]广西医科大学第一附属医院输血科,广西南宁530000 [3]黑龙江大庆市第五医院内科,黑龙江大庆163711

出　　处：《实用医院临床杂志》2014年第1期58-62,共5页Practical Journal of Clinical Medicine

基　　金：四川省应用基础研究基金资助项目(编号:2012JY0030)

摘　　要：目的探讨中国黑龙江汉族人群核苷酸内焦磷酸酶磷酸二酯酶1（Ecto—nucleotidepyrophosphatase／phosphodies-terase1，ENPPl）基因第4外显子K121Q对糖尿病发病的影响及其两者之间的关系。方法运用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）方法检测146例2型糖尿病（T2DM）患者（T2DM组）和238例糖耐量正常对照健康人（对照组）EN—PPl基因K121Q的多态性分布，同时检测其临床及生化指标，进行随机对照研究。结果①T2DM组XQ（KQ＋QQ）基因型频率高于对照组（21．23％VS10．50％，P=0．0038），其Q等位基因频率亦高于对照组（10．96％VS5．25％，P=0．0034），差异有统计学意义；②携带Q等位基因个体与携带K等位基因个体两组比较，在性别构成、年龄、身高、体重、体重指数（BMI）l、腰围、臀围、腰臀比（WHR）、收缩压（SBP）、舒张压（DBP）、空腹血糖（FPG）、空腹胰岛素水平（FINS）、HOMA—IR差异均无统计学意义（P〉0．05）；（④Logistic回归显示，ENPPl基因K121Q多态性与T2DM相关（OR=2．30，95％CI=1．29—4．08，P=0．0038）；④汉族人群Q等位基因携带频率低于其他人群（非西班牙裔白人、美国黑人和西班牙人）。结论①ENPPl基因K121Q位点Q等位基因与中国黑龙江省汉族人群T2DM发病相关；②T2DM患者中携带Q等位基因个体无明显胰岛素抵抗表现；（~）ENPPl基因K121Q位点的多态性有明显种族地域差异性。Objective To investigate the relationship between polymorphisms of ecto-nucleotide pyrophosphatase/phosphodi- esterase 1 （ ENPP1 ） gene K121Q and risk of type 2 diabetes （T2DM） in Han population of Heilongjiang Province of China. Methods The ENPP1 gene K121Q polymorphisms were genotyped by the method of polymerase chain reaction-restriction fragment length poly- morphism （PCR-RFLP） in patients with type 2 diabetes （experimental group） and healthy individuals （control group）. Clinical and biochemical indicators were also determined. The random case-control designs were used in this study. Results ① The frequencies of XQ （KQ＋QQ） genotype and Q allele in the T2DM patients were significantly higher in the experimental group than that in the control group （genotype：21.23 % vs. 10. 50% ,P = 0. 0038; Q allele： 10. 96% vs. 5.25% ,P = 0. 0034）. ② There were no statistical signifi- cance in sex, age, height, weight, body mass index （ BMI ） , waist circumference, hip circumference, waist- to- hip ratio, systolic blood pressures, diastolic blood pressures, fasting plasma glucose （FPG）, fasting insulin （INS） and homeostasis model assessment of insulin resistance （HOMA-IR） between the individuals with Q allele and K allele. ③ The logistic analysis showed that the ENPP1 K121Q pol- ymorphisms were associated with T2DM （OR=2. 30,95% CI = 1.29-4. 08,P = 0. 0038）. ④ The Q allele frequency of the K121Q polymorphisms in Heilongjiang Province was lower than that in other provinces. Conclusion ENPP1 gene K121Q polymorphisms are associated with T2DM in Heilongjiang province Han population. There is no evidence of insulin resistance in individuals with Q allele of T2DM patients. The significant difference of ENPP1 gene K121Q polymorphisms among various populations and geographic locations are observed.

关 键 词：核苷酸内焦磷酸酶磷酸二酯酶1 基因多态性 2型糖尿病 聚合酶链反应-限制性片段长度多态性 

分 类 号：R587.1[医药卫生—内分泌]