ENPP1基因多态位点与左心室肥厚的关系研究

目的 研究中老年人核苷酸外焦磷酸酶/磷酸二酯酶1(ENPP1)基因多态位点rs1409181与左心室肥厚的关系.方法 从"广州生物库队列-CVD"项目中的1996名研究对象随机选出390名年龄≥50岁的中老年广州市居民,收集其个人资料与病史、体格检查并测定血清空腹血糖、血脂水平;应用彩色多普勒超声诊断仪,同步连接心电图,测定左心室舒张末期内径(LVIDD)、舒张期室间隔厚度(IVSD)、舒张期后壁厚度(LVPWD).根据Devereux公式计算左心室质量(LVM)和左心室质量指数(LVMI)以判断左心室肥厚.应用荧光定量PCR方法检测ENPP1基因rs1409181位点的基因型.结果 ENPP1基因GG、CG和CC 3个基因型组左心室肥厚的比率分别为21.5%、28.2%和37.5%.与GG基因型相比,CG和CC基因型经调整包括血压和胰岛素抵抗指数在内等多种混杂因素后,对左心室肥厚的比值比(OR)分别为1.39(95%CI:0.78～2.50)和2.36(95%CI:1.21～4.60),趋势检验P=0.01.结论 ENPP1基因多态位点rs1409181与左心室肥厚显著相关.

Study on the association between gene polymorphism of ENPP1 and left ventricular hypertrophy: A Guangzhou Biobank Cohort Study-CVD

Objective To examine the association between genetic polymorphism of rs1409181 in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and left ventricular hypertrophy (LVH) among older Chinese in Guangzhou. Methods 390 subjects aged ≥50 years were randomly selected from the Guangzhou Biobank Cohort Study-CVD. Information on personal history, blood pressure, fasting plasma glucose and lipids were collected. Color Doppler ultrasound was used to measure the indicators of LVH, including left ventricular internal diastolic diameter (LVIDD) , thickness of the interventricular septum diastolic wall (IVSD) and the posterior wall diastolic diameter (LVPWD). LVIDD was calculated using Devereux ventricular mass (LVM)equation while the Left ventricular mass index (LVMI) equation was used to estimate LVH. The genotype of rs1409181 was determined by Taqman SNP genotyping kits using the ABI 7900HT real time PCR system. Results In the GG, CG and CC genotype groups, the proportions of LVH were 21.5%, 28.2% and 37.5% respectively. Compared with GG, the adjusted odds ratios (95% confidence interval) for the LVH were 1.39(0.78-2.50) and 2.36(1.21-4.60) for CG genotype and CC genotype of ENPP1 respectively (P for trend=0.01). Conclusion Polymorphism of ENPP1 gene rs1409181 was associated with LVH in the older Chinese people in Guangzhou.