Gene: ALDH2

Alternate names for this Gene: ALDH-E2|ALDHI|ALDM

Gene Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.12

Description of this Gene: aldehyde dehydrogenase 2 family member

Type of Gene: protein-coding

rs191252491 in ALDH2 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs191252491 in ALDH2 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs191252491 in ALDH2 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs671 in ALDH2 gene and Alcohol consumption PMID 28485404 2017 Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.

PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

PMID 24277619 2014 When rs671 was considered as a candidate SNP in females, it explained 23.6% of the variation in flushing response, but alcohol consumption rates were too low among females-despite familial enrichment for AD-for an adequate test of association for either AD or maximum drinks.

rs671 in ALDH2 gene and Alcohol-Induced Disorders PMID 24277619 2014 "ALDH2 is associated to alcohol dependence and is the major genetic determinant of ""daily maximum drinks"" in a GWAS study of an isolated rural Chinese sample."

rs671 in ALDH2 gene and Alcohol-Related Disorders PMID 24277619 2014 "ALDH2 is associated to alcohol dependence and is the major genetic determinant of ""daily maximum drinks"" in a GWAS study of an isolated rural Chinese sample."

rs671 in ALDH2 gene and Alcoholic Intoxication, Chronic PMID 24277619 2014 When rs671 was considered as a candidate SNP in females, it explained 23.6% of the variation in flushing response, but alcohol consumption rates were too low among females-despite familial enrichment for AD-for an adequate test of association for either AD or maximum drinks.

rs671 in ALDH2 gene and Arthritis, Gouty PMID 31289104 2019 Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.

rs671 in ALDH2 gene and Aspartate aminotransferase measurement PMID 30718733 2019 Moreover, 9 missense variants were newly identified, of which we identified new associations between a common population-specific missense variant, rs671 (p.Glu457Lys) of ALDH2, and two traits including aspartate aminotransferase (P = 5.20 × 10<sup>-13</sup>) and alanine aminotransferase (P = 4.98 × 10<sup>-8</sup>).

rs191252491 in ALDH2 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs671 in ALDH2 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs671 in ALDH2 gene and Body mass index PMID 24861553 2014 The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women.

rs671 in ALDH2 gene and Body mass index procedure PMID 24861553 2014 The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women.

rs2238151 in ALDH2 gene and Cerebrovascular accident PMID 23041239 2012 Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.

rs671 in ALDH2 gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs11066028 in ALDH2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs4646776 in ALDH2 gene and Drinking behavior processes PMID 23364009 2013 Common variants at 12q24 are associated with drinking behavior in Han Chinese.

PMID 23364009 2013 Moreover, we observed the association with drinking behavior for a functional variant in ALDH2 at 12q24 (rs671, P-discovery = 5.17 × 10(-35)).

PMID 21372407 2011 A cluster of 12 SNPs on 12q24 were found to significantly (P<5×10(-8)) associate with drinking behavior in stage 1, among which rs671 (a Glu-to-Lys substitution at position 504) in the ALDH2 gene showed the strongest association (odds ratio (OR)=0.16, P=3.6×10(-211) in the joint analysis).

rs671 in ALDH2 gene and Esophageal Neoplasms PMID 20833657 2010 Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.

PMID 19698717 2009 Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.

rs671 in ALDH2 gene and Finding of Mean Corpuscular Hemoglobin PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs671 in ALDH2 gene and Finding of body mass index PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs671 in ALDH2 gene and Gout PMID 31289104 2019 Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.

rs671 in ALDH2 gene and Hemoglobin measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs671 in ALDH2 gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs10744777 in ALDH2 gene and Ischemic stroke PMID 26708676 2016 Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.

rs4646776 in ALDH2 gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

PMID 19698717 2009 Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.

rs671 in ALDH2 gene and Mean Corpuscular Volume (result) PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs2238151 in ALDH2 gene and Mean blood pressure PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs671 in ALDH2 gene and Metabolic Syndrome X PMID 28371326 2017 Notably, by an integrated analysis of the genotypes and the serum levels of APOA5, BUD13 and triglyceride, we observed that BUD13 was another potential mediator, besides APOA5, of the association between rs651821 and serum triglyceride. rs671 (ALDH2), an east Asian-specific common variant, was found to be associated with MetS (P<sub>combined</sub> = 9.7 × 10<sup>-22</sup> ) in Han Chinese.

rs671 in ALDH2 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs530203431 in ALDH2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs671 in ALDH2 gene and Psoriasis PMID 25854761 2015 Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

rs671 in ALDH2 gene and Serum gamma-glutamyl transferase measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs671 in ALDH2 gene and Uric acid measurement (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 29408531 2018 The polymorphism rs671 at ALDH2 associated with serum uric acid levels in Chinese Han males: A genome-wide association study.

rs75852434 in ALDH2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs671 in ALDH2 gene and response to alcohol PMID 24277619 2014 "ALDH2 is associated to alcohol dependence and is the major genetic determinant of ""daily maximum drinks"" in a GWAS study of an isolated rural Chinese sample."