Department of Laboratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, No. 1 Shuaifu Yuan, Dongcheng District, Beijing, 100730, China.
Department of Health Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, No. 1 Shuaifu Yuan, Dongcheng District, Beijing, 100730, China.
BMC Cardiovasc Disord. 2020 Dec 4;20(1):509. doi: 10.1186/s12872-020-01787-5.
The ALDH2 rs671 genetic polymorphism has been linked with cardiovascular diseases (CVDs), but comprehensive epidemiological studies are lacking. An observational, retrospective big data study was carried out to evaluate the associations between this polymorphism and clustering cardiovascular risk factors (CRFs) in a Chinese population.
A total of 13,101 individuals (8431 males and 4670 females) were enrolled. Genetic polymorphism was assessed using gene mutation detection kits, coupled with an automatic fluorescent analyzer. Other data were obtained from the records of the Department of Health Care at Peking Union Medical College Hospital.
Comparing the concentrations of common biochemical analytes, including BMI, SBP, DBP, ALT, AST, γ-GT, TBil, Cr, Glu, TC, TG, and HDL-C among individuals with the GG, GA, and AA genotypes of ALDH2 rs671, we found significant differences in males (all p < 0.001), but not in females. For males, the frequencies of hypertension, diabetes, and obesity were significantly higher for GG than for GA or AA (all p < 0.05). However, there was no significant difference for dyslipidemia, and no significant associations were observed for all frequencies in females. The prevalence of individuals with 1-4 CRFs was significantly higher among GG males than those carrying GA or AA, and fewer GG males had non-CRFs (all p < 0.05).
Polymorphisms of ALDH2 rs671 are associated with clustering CRFs, especially hypertension and diabetes in males, but not in females. These associations are likely mediated by alcohol intake, which is also associated with this gene.
ALDH2 rs671 基因多态性与心血管疾病（CVDs）有关，但缺乏全面的流行病学研究。本观察性、回顾性大数据研究旨在评估该基因多态性与中国人群心血管危险因素聚集（CRFs）之间的关系。
共纳入 13101 例个体（8431 例男性和 4670 例女性）。采用基因突变检测试剂盒结合自动荧光分析仪检测基因多态性。其他数据来自北京协和医学院医院保健科的记录。
比较男性个体中常见生化指标（BMI、SBP、DBP、ALT、AST、γ-GT、TBil、Cr、Glu、TC、TG 和 HDL-C）的浓度，我们发现 ALDH2 rs671 的 GG、GA 和 AA 基因型之间存在显著差异（均 p<0.001），但在女性中无显著差异。对于男性，GG 基因型高血压、糖尿病和肥胖的频率显著高于 GA 或 AA（均 p<0.05）。然而，血脂异常频率无显著差异，女性各频率无显著相关性。1-4 个 CRFs 的个体在 GG 男性中比在携带 GA 或 AA 的男性中更常见，且 GG 男性中非 CRFs 更少（均 p<0.05）。
ALDH2 rs671 多态性与 CRFs 聚集有关，特别是男性的高血压和糖尿病，但在女性中无显著相关性。这些关联可能是由与该基因相关的饮酒引起的。
