VIP Variant in ALDH1A1
ALDH1A1*3 is a 3bp insertion variant in the promoter region of ALDH1A1, that was first identified by Spence et al through a screening of promoter polymorphisms in diverse ethnic groups (allele frequency table included below) [Article:14506398]. In contrast to ALDH1A1*2, which was found at low frequencies in every ethnic group examined by Spence et al, ALDH1A1*3 was found specifically in African Americans [Article:14506398].
In vitro luciferase studies in HeLa and HepG2 cell lines suggest that ALDH1A1*3 has significantly lower expression than ALDH1A1*1 (the reference sequence) [Article:14506398]. This suggests that ALDH1A1*3 may not be transcribed as efficiently, and may lead to a reduction in function [Article:14506398]. In seeming agreement with this contention, Spence et al found that the frequency of ALDH1A1*3 was significantly higher among African American alcoholics [Article:14506398]. However, a later study by Scott et al suggested that ALDH1A1*3 actually had a protective effect against alcoholism [Article:17718396].
| Population | N | Allele Frequency of ALDH1A1*1 | Allele Frequency of ALDH1A1*2 | Allele Frequency of ALDH1A1*3 | Reference |
|---|---|---|---|---|---|
| African American | 85 | 0.96 | 0.01 | 0.03 | [Article:14506398] |
| Asian American | 71 | 0.97 | 0.03 | 0 | [Article:14506398] |
| Caucasian | 239 | 0.98 | 0.02 | 0 | [Article:14506398] |
| Jewish | 36 | 0.98 | 0.02 | 0 | [Article:14506398] |
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Chemical (3)
acetaldehyde
retinaldehyde
aldophosphamide
|
| Diseases | Alcoholism |
Appendix
Genomic Variant & GenBank ID: Insertion between 45391035-45391035 on AC_000141
GoldenPath Position: insertion between chr9:74758298-74758297 (hg18)
Publications related to rs72554629 at chr9:75568477: 2
| Health-related effects of genetic variations of alcohol-metabolizing enzymes in African Americans. Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism. 2007. Scott Denise M, et al. [Article:17718396@PubMed] | |
| Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations. Alcoholism, clinical and experimental research. 2003. Spence John P, et al. [Article:14506398@PubMed] |