Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Chang-Gung University, Taoyuan, 333, Taiwan.
Department of Biotechnology, Ming Chuan University, Taoyuan, 333, Taiwan.
Sci Rep. 2020 Feb 27;10(1):3641. doi: 10.1038/s41598-020-60567-5.
Alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) encode essential alcohol-metabolizing enzymes. While alcohol use is associated with spontaneously deep intracerebral haemorrhage (SDICH), particularly in males, the activities and genetic variants of ADH and ALDH may affect SDICH development. This case-control study was conducted to identify the interaction of alcohol use and SDICH with five single-nucleotide polymorphisms (SNPs): ADH1B rs1229984, ADH1C rs2241894, ALDH2 rs671, ALDH2 rs886205, and ALDH2 rs4648328. We enrolled 208 patients with SDICH and 244 healthy controls in a Taiwanese population. ALDH2 rs671 was significantly associated with SDICH in the dominant (P < 0.001) and additive models (P = 0.007). ALDH2 rs4648328 was borderline significantly associated with SDICH in the recessive (P = 0.024) or additive models (P = 0.030). In alcohol-using patients, the ALDH2 rs671 GG genotype was associated with SDICH risk compared to the GA+AA genotype (P = 0.010). ADH1B rs1229984, ADH1C rs2241894, and ALDH2 rs886205 did not demonstrate association with SDICH. Thus, the ALDH2 rs671 GG genotype is a risk factor for SDICH. Because the genetic distributions of ALDH2 rs671 exhibited strong ethnic heterogeneity, further studies in different populations are needed to validate these findings.
乙醇脱氢酶（ADH）和醛脱氢酶（ALDH）编码重要的酒精代谢酶。尽管饮酒与自发性脑内深部出血（SDICH）有关，尤其是在男性中，但 ADH 和 ALDH 的活性和遗传变异可能会影响 SDICH 的发展。本病例对照研究旨在确定饮酒和 SDICH 与五个单核苷酸多态性（SNP）之间的相互作用：ADH1B rs1229984、ADH1C rs2241894、ALDH2 rs671、ALDH2 rs886205 和 ALDH2 rs4648328。我们在台湾人群中纳入了 208 例 SDICH 患者和 244 例健康对照者。ALDH2 rs671 在显性（P<0.001）和加性模型（P=0.007）中与 SDICH 显著相关。ALDH2 rs4648328 在隐性（P=0.024）或加性模型（P=0.030）中与 SDICH 呈边缘显著相关。在饮酒患者中，与 GA+AA 基因型相比，ALDH2 rs671 GG 基因型与 SDICH 风险相关（P=0.010）。ADH1B rs1229984、ADH1C rs2241894 和 ALDH2 rs886205 与 SDICH 无关。因此，ALDH2 rs671 GG 基因型是 SDICH 的危险因素。由于 ALDH2 rs671 的遗传分布表现出强烈的种族异质性，因此需要在不同人群中进一步研究以验证这些发现。
