Research progress of gene polymorphisms of ADH1B and ALDH2 and their related diseases

doi:10.3969/j.issn.1673-8640.2019.03.019

Abstract

Abstract:

Alcohol dehydrogenase （ADH） and aldehyde dehydrogenase （ALDH）are key enzymes of alcohol metabolism in human liver,which constitute ethanol dehydrogenase oxidation system. ADH1B and ALDH2 are 2 important subtypes of ADH and ALDH,respectively. ADH1B and ALDH2 gene polymorphisms are associated with a variety of diseases,such as digestive system diseases,neurodegenerative disorders and metabolic diseases. In this review,the gene polymorphisms of ADH1B and ALDH2 and their related diseases are reviewed to provide new ideas for the prevention and diagnosis of diseases.

Key words: Alcohol dehydrogenase 1B, Aldehyde dehydrogenase 2, Gene polymorphism, Disease

CLC Number:

Q554

ZHANG Xiaomin, LIU Jing, GAO Shichao, YANG Tingting, WANG Peichang. Research progress of gene polymorphisms of ADH1B and ALDH2 and their related diseases[J]. Laboratory Medicine, 2019, 34(3): 271-275.

Figures/Tables 2

References 35

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基因	SNP位点	基因型	氨基酸变异	相关疾病	发病风险
ADH1B	rs1229984	GG	Arg/Arg	食管鳞癌、阿尔茨海默病	升高
				肝硬化、脂肪肝	升高
		AA、GA	His/His、Arg/His	痛风	升高
	rs17033	AA	His/His	结直肠癌	升高
	rs4147536	GG、GA		胃癌	升高
ALDH2	rs671	TT		胃癌	降低
		GG	Glu/Glu	肝硬化、肝细胞肝癌	升高
		GA	Glu/Lys	食管鳞癌、脂肪肝	升高
		GA、AA	Glu/Lys、Lys/Lys	胃癌	升高
		GA、AA	Glu/Lys、Lys/Lys	阿尔茨海默病、帕金森病、痛风	升高

基因	SNP位点	基因型	氨基酸变异	相关疾病	发病风险
ADH1B	rs1229984	GG	Arg/Arg	食管鳞癌、阿尔茨海默病	升高
				肝硬化、脂肪肝	升高
		AA、GA	His/His、Arg/His	痛风	升高
	rs17033	AA	His/His	结直肠癌	升高
	rs4147536	GG、GA		胃癌	升高
ALDH2	rs671	TT		胃癌	降低
		GG	Glu/Glu	肝硬化、肝细胞肝癌	升高
		GA	Glu/Lys	食管鳞癌、脂肪肝	升高
		GA、AA	Glu/Lys、Lys/Lys	胃癌	升高
		GA、AA	Glu/Lys、Lys/Lys	阿尔茨海默病、帕金森病、痛风	升高