Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2015:2015:174050.
doi: 10.1155/2015/174050. Epub 2015 Sep 27.

Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases

Yan Zhao  1 , Chuancai Wang  2
Affiliations
Review

Glu504Lys Single Nucleotide Polymorphism of Aldehyde Dehydrogenase 2 Gene and the Risk of Human Diseases

Yan Zhao et al. Biomed Res Int. 2015.

Abstract

Aldehyde dehydrogenase (ALDH) 2 is a mitochondrial enzyme that is known for its important role in oxidation and detoxification of ethanol metabolite acetaldehyde. ALDH2 also metabolizes other reactive aldehydes such as 4-hydroxy-2-nonenal and acrolein. The Glu504Lys single nucleotide polymorphism (SNP) of ALDH2 gene, which is found in approximately 40% of the East Asian populations, causes defect in the enzyme activity of ALDH2, leading to alterations in acetaldehyde metabolism and alcohol-induced "flushing" syndrome. Evidence suggests that ALDH2 Glu504Lys SNP is a potential candidate genetic risk factor for a variety of chronic diseases such as cardiovascular disease, cancer, and late-onset Alzheimer's disease. In addition, the association between ALDH2 Glu504Lys SNP and the development of these chronic diseases appears to be affected by the interaction between the SNP and lifestyle factors such as alcohol consumption as well as by the presence of other genetic variations.

PubMed Disclaimer

Figures

Figure 1
Figure 1
The association of Glu504Lys SNP of ALDH2 gene with human diseases is complicated by other genetic variations and environmental/lifestyle factors in addition to alcohol drinking.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Isse T., Matsuno K., Oyama T., Kitagawa K., Kawamoto T. Aldehyde dehydrogenase 2 gene targeting mouse lacking enzyme activity shows high acetaldehyde level in blood, brain, and liver after ethanol gavages. Alcoholism: Clinical and Experimental Research. 2005;29(11):1959–1964. doi: 10.1097/01.alc.0000187161.07820.21. - DOI - PubMed
    1. Klyosov A. A., Rashkovetsky L. G., Tahir M. K., Keung W.-M. Possible role of liver cytosolic and mitochondrial aldehyde dehydrogenases in acetaldehyde metabolism. Biochemistry. 1996;35(14):4445–4456. doi: 10.1021/bi9521093. - DOI - PubMed
    1. Crabb D. W., Edenberg H. J., Bosron W. F., Li T.-K. Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH2(2) allele is dominant. The Journal of Clinical Investigation. 1989;83(1):314–316. doi: 10.1172/jci113875. - DOI - PMC - PubMed
    1. Goedde H. E., Agarwal D. P., Harada S., et al. Population genetic studies on aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity. The American Journal of Human Genetics. 1983;35(4):769–772. - PMC - PubMed
    1. Kamino K., Nagasaka K., Imagawa M., et al. Deficiency in mitochondrial aldehyde dehydrogenase increases the risk for late-onset Alzheimer's disease in the Japanese population. Biochemical and Biophysical Research Communications. 2000;273(1):192–196. doi: 10.1006/bbrc.2000.2923. - DOI - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources