Aldehyde dehydrogenase polymorphisms

Goedde HW, Agarwal DP, Harada S, et al (1986) Aldehyde dehydrogenase polymorphism in North American, South American, and Mexican Indian populations. Am J Himi Genet 38 395-399... 

Goedde HW, Agarwal DP. Aldehyde dehydrogenase polymorphism molecular basis and phenotypic relationship to alcohol sensitivity. Alcohol Alcohol 1987 (suppl l) 47-54. 

Novoradovsky A, Tsai SJ, Goldfarb L, Peterson R, Long JC, Goldman D. Mitochondrial aldehyde dehydrogenase polymorphism in Asian and American Indian populations detection of new ALDH2 alleles. Alcohol Clin Exp Res 1999 19 1105-1110. 

TABLE 11.2. Clinically Important Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphisms... 

Chou W-Y, Stewart MJ, Carr LG, Zheng D, Stewart TR, Williams A, Pinaire J, Crabb DW. An A/G polymorphism in the promoter of mitochondrial aldehyde dehydrogenase (ALDH2) effects of the sequence variant on transcription factor binding and promoter strength. Alcohol Clin Exp Res 1999 26 963-968. 

Human polymorphisms in several enzymes involved in toluene metabolism are known. In Mongoloid populations, deficiency in the low form of aldehyde dehydrogenase H2 (ALDH2) is common approximately half of the Japanese population lacks this enzyme. In ALDH2-deficient exposed workers, an increased level of benzyl alcohol was found, but benzaldehyde was not detectable urinary excretion of hippurate was decreased in the deficient individuals. The CYPlAl polymorphism, alcohol consumption and smoking were all associated with decreased hippurate excretion, but the interdependence was too complex to allow detailed conclusions on the mechanisms to be drawn (Kawamoto et al., 1995). 

Many other significant polymorphisms in xenobiotic metabolizing enzymes have been described, including those for several CYP genes, alcohol and aldehyde dehydrogenases, epoxide hydrolase, and paraoxonase. One interesting polymorphism affecting... 

Bosron WF, Li TK. Genetic polymorphism of human liver alcohol and aldehyde dehydrogenases, and their relationship to alcohol metabolism and alcoholism. Hepatology 1986 6 502-510. 

Chao YC, Liou SR, Chung YY, Tang HS, Hsu CT, Li TK, Yin SJ. Polymorphism of alcohol and aldehyde dehydrogenase genes and alcoholic cirrhosis in Chinese patients. Hepatology 1994 19 360-366. 

Hasegawa Y, et al. Association of a polymorphism of the serotonin IB receptor gene and alcohol dependence with inactive aldehyde dehydrogenase-2. J Neural Transm 2002 109(4) 513-521. 

Matsuo K, Wakai K, Hirose K, et al. Alcohol dehydrogenase 2 His47Arg polymorphism infiuences drinking habit independently of aldehyde dehydrogenase 2 Glu487Lys polymorphism analysis of 2,299 Japanese subjects. Cancer Epidemiol Biomarkers Prev 2006 15(5) 1009-13. 

T. L. Wall, C. M. Petersen, K. P. Peterson, et al Alcohol metabolism in Asian-American men with genetic polymorphisms of aldehyde dehydrogenase. Annals of Internal Medicine 127, 376 (1997). 

Maruyama, K. Takeyama, H. Nemoto, E. Tanaka, T. Yoda, K Matsunaga, T. (2004), Single nucleotide polymorphism detection in aldehyde dehydrogenase 2 (ALDH2) gene using bacterial magnetic particles based on dissociation curve analysis. 

In fact, the more active polymorphisms of alcohol dehydrogenase IB and the less active forms of aldehyde dehydrogenase H2 are commonly found together among East Asian populations. This combination results in poor tolerance of alcohol and sustained levels of acetaldehyde. These sustained acetaldehyde levels lead to facial flushing in affected individuals as well as nausea and headache. 

Yokoyama A, Omori T. Genetic polymorphisms of alcohol and aldehyde dehydrogenases and risk for esophageal and head and neck cancers. Ipn J Clin Oncol. 2003 33 111-121. 

---