ALDH2 rs671基因多态性与非酒精性脂肪性肝病相关性研究*

目的 研究乙醛脱氢酶2（ALDH2）基因rs671多态性与非酒精性脂肪性肝病（NAFLD）发病的相关性。方法 在120例研究对象,行肝脏硬度和受控衰减参数（CAP）及血ALDH2 rs671多态性检测,采用非条件Logistic回归控制混杂因素,计算比值比（OR）及其95%可信区间（CI）,判断基因多态性与NAFLD患病的相对风险度。结果 根据CAP检测结果发现脂肪肝73例,无脂肪肝人群47例;脂肪肝组和无脂肪肝组ALDH2 rs671基因GA/AA型比例分别为52.1%和34.0%（P<0.05）;女性和超重人群中脂肪肝组GA/AA型比例分别为48.8%和53.3%,显著高于无脂肪肝组的22.2%和23.1%（P<0.05）;GA/AA型者脂肪肝患病风险升高3.756倍,其体质量、臀围、腰高比超标比例显著高于GG型者（P<0.05）,血清GGT水平为（55.57±99.97） U/L,显著高于GG型者[（38.17±48.02）U/L,P<0.05]。结论 ALDH2 rs671突变可增加NAFLD的患病风险,其发病机制和防治措施还需要进一步研究。

Correlation of polymorphism of ALDH2 rs671 to morbidity in individuals prone to nonalcoholic fatty liver disease

Objective The purpose of this study was to investigate the correlation of polymorphism of acetaldehyde dehydrogenase 2 （ALDH2） rs671 to morbidity in individuals prone to nonalcoholic fatty liver disease （NAFLD）. Methods Transient elastography and sequencing of ALDH2 rs671 were performed in 120 subjects. The odd ratio and confidence interval were calculated by Logistic analysis. Results Out of the 120 individuals,73 had NAFLD and 47 had not by the controlled attenuation parameter;the proportions of ALDH2 genotype GA/AA were 52.1% in the fatty liver group,and 34.0% in the non-fatty liver group（P<0.05）;out of female and overweight,the proportions of GA/AA type（48.8% vs. 53.3%）in the fatty liver group were both significantly higher than in non-fatty liver group （22.2% vs.23.1%,P<0.05）;Logistic analysis revealed that carriers of GA/AA type was at 3.756 -fold higher risk of NAFLD compared with non-carriers;the carriers of GA/AA type had significantly higher body weight,hip circumference and waist height ratio（P<0.05）,and serum GGT level in carriers of GA/AA type was（55.57±99.97） U/L,significantly higher than that in carriers of GG type【（38.17±48.02） U/L,P<0.05】. Conclusion The mutation of ALDH2 rs671 might increase the risk of having NAFLD,which needs further investigation.