Gene: ALDH1A2
Alternate names for this Gene: RALDH(II)|RALDH2|RALDH2-T
Gene Summary: This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene.
Gene is located in Chromosome: 15
Location in Chromosome : 15q21.3
Description of this Gene: aldehyde dehydrogenase 1 family member A2
Type of Gene: protein-coding
rs3784262 in
ALDH1A2 gene and
Adenocarcinoma Of Esophagus
PMID 24121790 2013 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
rs7165301 in
ALDH1A2 gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs10468017 in
ALDH1A2 gene and
Age related macular degeneration
PMID 21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
PMID 20385826 2010 Our LIPC association was strongest for a functional promoter variant, rs10468017, (P = 1.34e-08), that influences LIPC expression and serum HDL levels with a protective effect of the minor T allele (HDL increasing) for advanced wet and dry AMD.
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
PMID 20385819 2010 Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
PMID 20385826 2010 Our discovery data implicated the association between AMD and a variant in the hepatic lipase gene (LIPC) in the high-density lipoprotein cholesterol (HDL) pathway (discovery P = 4.53e-05 for rs493258).
PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.
rs2043082 in
ALDH1A2 gene and
Alcohol consumption
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
rs12148780 in
ALDH1A2 gene and
Alzheimer's Disease
PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
rs187775 in
ALDH1A2 gene and
Arthritis, Gouty
PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.
rs3784262 in
ALDH1A2 gene and
Barrett Esophagus
PMID 24121790 2013 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
PMID 27527254 2016 Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis.
rs261316 in
ALDH1A2 gene and
Blood Pressure
PMID 29097388 2017 Genetic Variants Associated With Uncontrolled Blood Pressure on Thiazide Diuretic/β-Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses) and INVEST (International Verapamil-SR Trandolapril Study) Trials.
rs1532085 in
ALDH1A2 gene and
Calcification of coronary artery
PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
rs4471613 in
ALDH1A2 gene and
Cerebrovascular accident
PMID 26089329 2015 The 15q21.3 locus linked with lipid levels and hypertension was associated with total stroke (rs4471613; P=3.9×10(-8)) in African Americans.
rs10468017 in
ALDH1A2 gene and
Coronary heart disease
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
rs10468017 in
ALDH1A2 gene and
Corpuscular Hemoglobin Concentration Mean
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
rs3204689 in
ALDH1A2 gene and
Degenerative polyarthritis
PMID 24728293 2014 Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
rs3784262 in
ALDH1A2 gene and
Digestive System Disorders
PMID 24121790 2013 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
rs2043085 in
ALDH1A2 gene and
Exudative age-related macular degeneration
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
rs3784262 in
ALDH1A2 gene and
Gastrointestinal Diseases
PMID 24121790 2013 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
rs2043085 in
ALDH1A2 gene and
Geographic Atrophy
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
rs187775 in
ALDH1A2 gene and
Gout
PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.
rs1532085 in
ALDH1A2 gene and
Hemoglobin measurement
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
rs10468017 in
ALDH1A2 gene and
High density lipoprotein measurement
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 21589926 2011 Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 21589926 2011 Here we apply an EMR-based phenotyping approach, within the context of routine care, to replicate several known associations between HDL-C and previously characterized genetic variants: CETP (rs3764261, p = 1.22e-25), LIPC (rs11855284, p = 3.92e-14), LPL (rs12678919, p = 1.99e-7), and the APOA1/C3/A4/A5 locus (rs964184, p = 1.06e-5), all adjusted for age, gender, body mass index (BMI), and smoking status.
PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs3784262 in
ALDH1A2 gene and
Intestinal Diseases
PMID 24121790 2013 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.
rs4471613 in
ALDH1A2 gene and
Ischemic stroke
PMID 26089329 2015 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.
rs1532085 in
ALDH1A2 gene and
Lipids measurement
PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
rs56903760 in
ALDH1A2 gene and
Low density lipoprotein cholesterol measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs10468017 in
ALDH1A2 gene and
Metabolic Syndrome X
PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
PMID 22399527 2012 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
PMID 29632305 2018 New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.
rs10468017 in
ALDH1A2 gene and
Phospholipid measurement
PMID 22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
rs10468017 in
ALDH1A2 gene and
Pseudocholinesterase Measurement
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
rs7165301 in
ALDH1A2 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs10468017 in
ALDH1A2 gene and
Serum HDL cholesterol measurement
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 21589926 2011 Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks.
PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
rs10152355 in
ALDH1A2 gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.
PMID 19043545 2008 Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
rs10468017 in
ALDH1A2 gene and
Serum total cholesterol measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
rs10468017 in
ALDH1A2 gene and
Triglycerides measurement
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
rs2043085 in
ALDH1A2 gene and
exudative macular degeneration
PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.