Zhu Zhen, Jiang Yanfeng, Cui Mei, Wang Yingzhe, Li Shuyuan, Xu Kelin, Zhang Kexun, Zhu Chengkai, Xu Wanghong, Jin Li, Ye Weimin, Suo Chen, Chen Xingdong
Department of Epidemiology, School of Public Health, and the Key Laboratory of Public Health Safety of Ministry of Education, Fudan University, Shanghai 200438, China.
State Key Laboratory of Genetic Engineering, Human Phenome Institute, Fudan University, Shanghai 200438, China.
Ann Transl Med. 2020 Mar;8(5):229. doi: 10.21037/atm.2020.01.01.
Cerebral microbleeds (CMBs) are more prevalent in Asian populations, and have been associated with increased risk of stroke, dementia and mortality. So far, risk factors for CMBs other than hypertension were merely known. Previous studies have shown that polymorphisms at aldehyde dehydrogenase 2 (2) gene were independently associated with the risk of stroke. Its role in CMBs, however, remains unclear. This study aimed to evaluate the associations of 2 gene polymorphisms with CMBs in Chinese elderly.
Using bio-specimen and data collected at baseline survey of the population-based Taizhou Imaging Study (TIS) (phase I), we genotyped the single nucleotide polymorphisms (SNPs) at 2 among 549 individuals aged 55-65 years, and rs671 was used as surrogate marker of 2. CMBs were detected on brain magnetic resonance imaging (MRI), and further categorized as strictly lobar or as deep/mixed. Logistic regression models were used to evaluate the associations of the variants at 2 and CMBs.
CMBs were present in 103 individuals (18.8%). Forty-one point three percent participants were with 2 *2 allele and 5.1% had 2 *2/*2 genotype. Subjects with 2 *1 allele were more likely to be drinker, have hypertension or CMBs than those with *2 allele (all P<0.05). Multivariate logistic regression model showed that the 2 *1/*1 genotype was independently associated with CMBs (P=0.013), particularly for deep/mixed CMBs (P=0.008), and the association was more pronounced in men, non-drinkers or hypertension patients.
The results suggest that Han Chinese with 2 *1/*1 genotype may be more susceptible to CMBs than those with 2 *2 allele.
脑微出血（CMBs）在亚洲人群中更为普遍，并且与中风、痴呆和死亡风险增加有关。到目前为止，除高血压外，CMBs的危险因素尚不清楚。先前的研究表明，乙醛脱氢酶2（ALDH2）基因多态性与中风风险独立相关。然而，其在CMBs中的作用仍不清楚。本研究旨在评估ALDH2基因多态性与中国老年人CMBs的相关性。
利用基于人群的泰州影像研究（TIS）（I期）基线调查收集的生物样本和数据，我们对549名年龄在55 - 65岁个体中的ALDH2单核苷酸多态性（SNPs）进行基因分型，并将rs671用作ALDH2的替代标记。通过脑磁共振成像（MRI）检测CMBs，并进一步分为严格的叶型或深部/混合型。采用逻辑回归模型评估ALDH2变异与CMBs的相关性。
103名个体（18.8%）存在CMBs。41.3%的参与者携带ALDH2 *2等位基因，5.1%具有ALDH2 *2/*2基因型。携带ALDH2 1等位基因的受试者比携带2等位基因的受试者更有可能饮酒、患有高血压或CMBs（所有P<0.05）。多变量逻辑回归模型显示，ALDH2 *1/*1基因型与CMBs独立相关（P = 0.013），特别是对于深部/混合型CMBs（P = 0.008），并且这种关联在男性、非饮酒者或高血压患者中更为明显。
结果表明，与携带ALDH2 *2等位基因的汉族人相比，携带ALDH2 *1/*1基因型的汉族人可能更容易发生CMBs。
