2003
DOI: 10.1097/01.alc.0000087086.50089.59
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Evaluation of Aldehyde Dehydrogenase 1 Promoter Polymorphisms Identified in Human Populations

Abstract: Background-Cytosolic aldehyde dehydrogenase, or ALDH1A1, functions in ethanol detoxification, metabolism of neurotransmitters, and synthesis of retinoic acid. Because the promoter region of a gene can influence gene expression, the ALDH1A1 promoter regions were studied to identify polymorphism, to assess their functional significance, and to determine whether they were associated with a risk for developing alcoholism.

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Cited by 47 publications
(43 citation statements)
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References 30 publications
(24 reference statements)
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“…Recently, two polymorphisms were discovered in the promoter region of the ALDH1A1 gene. One variant, a 17-base pair (bp) deletion (À416/À432) (ALDH1A1 Ã 2), has been found in various ethnic groups, whereas the second variant, a 3-bp insertion (À524) (ALDH1A1 Ã 3), was observed only in African Americans [106]. The ALDH1A1 Ã 3 allele was suggested to be more active than the wild-type allele in reported gene transfection assays [106].…”
Section: Aldehyde Dehydrogenasementioning
confidence: 99%
See 1 more Smart Citation
“…Recently, two polymorphisms were discovered in the promoter region of the ALDH1A1 gene. One variant, a 17-base pair (bp) deletion (À416/À432) (ALDH1A1 Ã 2), has been found in various ethnic groups, whereas the second variant, a 3-bp insertion (À524) (ALDH1A1 Ã 3), was observed only in African Americans [106]. The ALDH1A1 Ã 3 allele was suggested to be more active than the wild-type allele in reported gene transfection assays [106].…”
Section: Aldehyde Dehydrogenasementioning
confidence: 99%
“…Other than the ALDH2 Ã 2 allele, the genetic influence of ALDHs on the risk for alcohol dependence appears, if present, to be modest. Protective roles against alcohol dependence have been suggested for the ALDH1A1 Ã 2 allele in Southwest California Indians [108] and for the ALDH1A1 Ã 3 allele in African Americans [106].…”
Section: Aldehyde Dehydrogenasementioning
confidence: 99%
“…The impact of functional variation in ADH1B and ALDH2 genes on alcohol metabolism have been fairly well characterized; however, there are large interindividual differences in alcohol elimination rates that still remain unexplained. Of potential signi fi cance in this regard may be polymorphisms in ADH4 [ 90,91 ] , ADH7 [ 39,69 ] , and ALDH1A1 [ 92,93 ] as well as the promoter regions of ALDH2 [ 94 ] . Further studies are needed to evaluate the in fl uence of these polymorphisms on the activity of ADH and ALDH and on alcohol levels and elimination rates in individuals, as well as on the physiological response to alcohol consumption and alcoholism.…”
Section: Discussionmentioning
confidence: 99%
“…The ALDH1A1 gene has two polymorphic loci in the promoter region -ALDH1A1*2, a 17-bp deletion, and ALDH1A1*3, a 3-bp insertion -and transfection assays suggest that these polymorphisms might be functional (Spence et al 2003). Polymorphisms in the ALDH1A1 gene are reported to be associated with the risk of alcohol dependence and drinking behavior (Ehlers et al 2004).…”
Section: Aldehyde Dehydrogenase (Aldh) and Alcoholismmentioning
confidence: 99%