Varaico: Literature-Extracted Genetic Variants

Gene:ALDH2
Variant:p.E504K
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ALDH2

NM_000690.4:p.E504K

Associated Papers

ALDH2 variants - a role in cardiometabolic syndrome.

Jia G et al.

Metabolism: Clinical and Experimental, 2026

E3 ubiquitin ligase TRIM21-mediated K48-linked ubiquitination of ALDH2 rs671 mutant promotes adverse cardiac remodeling.

Han T et al.

Jci Insight, 2026

ALDH2 inhibits head and neck tumorigenesis through RAS signaling suppression, transactivation of TGM2, and synergy with ALDH6A1.

Janesha UGS et al.

Cellular and Molecular Life Sciences : Cmls, 2026

ALDH2 activation protects against mutant TOMM40-mediated mitochondrial dysfunction and neurodegeneration in Alzheimer's disease.

Chen YC et al.

Life Sciences, 2026

The Aldehyde Dehydrogenase 2 rs671 Variant Enhances Platelet Activation and Arterial Thrombosis.

Sun S et al.

Circulation, 2026

Aldehyde dehydrogenase 2 mitigates acrolein-driven ferroptosis to preserve kidney function.

Kuo YM et al.

Environmental Pollution (barking, Essex : 1987), 2026

ALDH2/eIF3E Interaction Modulates Protein Translation Critical for Cardiomyocyte Ferroptosis in Acute Myocardial Ischemia Injury.

Chen X et al.

Circulation, 2026

Long-term exposure to the ethanol-derived metabolite acetaldehyde elevates structural genomic alterations but not base substitutions.

Lózsa R et al.

Communications Biology, 2026

ALDH2 rs671 Variant Lowers Blood Pressure Via the Endothelial HSPA5-PIEZO1-eNOS Pathway.

Ye H et al.

Journal of the American Heart Association, 2026

Impact of ALDH2 genotypes and alcohol consumption on age at first-ever ischemic stroke: A cohort study in Taiwan.

Sung YF et al.

Alcohol, Clinical & Experimental Research, 2026

Correlation Between ALDH2 Gene Polymorphism and Coronary Artery Disease in Patients With Atrial Fibrillation.

Zheng B et al.

Cardiovascular Therapeutics, 2026

Evidence for early endothelial dysfunction associated with the ALDH2 rs671 gene variant: A preliminary investigation with young East Asians.

Lioy B et al.

Experimental Physiology, 2025

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.

Zhang Z et al.

Diagnostics (basel, Switzerland), 2025

41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List

Genetic Determinants of Leisure-Time Physical Activity in the Taiwanese Population: A Genome-Wide Association Study.

Hsu LA et al.

Medicine and Science in Sports and Exercise, 2025

Genetic and epigenetic determinants of fetal alcohol spectrum disorders: Toward a precision medicine approach.

Sessa F et al.

Experimental and Molecular Pathology, 2025

Low Alanine Aminotransferase Levels in Alcohol Consuming Male Subjects, Carriers of the Common ALDH2 Deficient Variant, ALDH2*2.

Seike T et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2025

Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.

Enzan N et al.

Nature Communications, 2025

41184235 (PubMed )
Supplement: 41467_2025_64659_MOESM3_ESM.xlsx › SD13

Comparison of Somatic Mutations in Primary Squamous Cell Carcinomas of the Hypopharynx and the Esophagus Developed in Individual Patients.

Matsui H et al.

Head & Neck, 2025

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

Chenzhuo S et al.

Bmc Pediatrics, 2025

ALDH2 Deficiency Drives Proliferative Mammary Morphogenesis and Epithelial Cell Stemness via Oxidative Stress and Estrogen Receptor Activation.

Ma Z et al.

Biorxiv : the Preprint Server for Biology, 2025

ALDH2 in autophagy and cell death: molecular mechanisms and implications for diseases.

Duan Y et al.

Military Medical Research, 2025

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

Vujkovic M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41001506 (PubMed )
Supplement: media-1.xlsx › Supp8

Targeting USP21 to inhibit abdominal aortic aneurysm progression by suppressing the phenotypic transition of vascular smooth muscle cells.

Zhang H et al.

Cell Reports. Medicine, 2025

Estimating genetic load from 5000 Chinese exomes.

Du X et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Genetic Polymorphisms of ALDH2 and ADH1B in Alcohol-Induced Liver Injury: Molecular Mechanisms of Inflammation and Disease Progression in East Asian Populations.

Tadokoro T et al.

International Journal of Molecular Sciences, 2025

Targeting ALDH2 to promote skeletal muscle health: A novel strategy against mitochondrial dysfunction.

Andrade KSG et al.

The Journal of Physiology, 2025

Corrigendum: Novel and prevalent non-East Asian ALDH2 variants; implications for global susceptibility to aldehydes' toxicity EBioMedicine (2020) - doi: 10.1016/j.ebiom.2020.102753.

Chen CH et al.

Ebiomedicine, 2025

ALDH2 Enzyme Deficiency in Diabetic Cardiomyopathy.

Hsieh YW et al.

International Journal of Molecular Sciences, 2025

Aldehyde Dehydrogenase 2 Gene Mutation May Reduce the Risk of Rupture of Intracranial Aneurysm in Chinese Han Population.

Chen X et al.

Journal of Stroke, 2025

Smoking behavior-related genetic variants and lung cancer risk in Japanese: an assessment by mediation analysis.

Yamamoto S et al.

Carcinogenesis, 2025

The combined effect between environmental exposure and oxidative stress-related susceptible gene polymorphisms on human semen quality.

Wu S et al.

Journal of Assisted Reproduction and Genetics, 2025

Establishment and characterization of novel patient-derived esophageal tumoroids with long-term cultivability.

Urano T et al.

Human Cell, 2025

Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.

Morishita Y et al.

Pediatric Blood & Cancer, 2025

Genetic Polymorphism in Alcohol Metabolism and Drinking Behavior Are Associated with Gastric Cancer Risk in Men.

Asanuma K et al.

Internal Medicine (tokyo, Japan), 2025

Suppression of aldehyde dehydrogenase 2 in kidney proximal tubules contributes to kidney fibrosis through Transforming Growth Factor-β signaling.

Chiu IJ et al.

Kidney International, 2025

Understanding the link between ALDH2 genotypes and diabetes.

Peng M et al.

Frontiers in Endocrinology, 2025

Geographical distribution of ALDH2 rs671 polymorphism in Chinese angina pectoris patients.

Dong W et al.

Frontiers in Genetics, 2025

Association between ALDH2 rs671 polymorphism and susceptibility to non-valvular atrial fibrillation in a Chinese population: a large-scale case-control study.

Zhong F et al.

Frontiers in Physiology, 2025

Synthetic mismatches enable specific CRISPR-Cas12a-based detection of genome-wide SNVs tracked by ARTEMIS.

Kohabir KAV et al.

Cell Reports Methods, 2024

Targeting ALDH2 to augment platinum-based chemosensitivity through ferroptosis in lung adenocarcinoma.

Shan G et al.

Free Radical Biology & Medicine, 2024

A genome-wide association analysis reveals new pathogenic pathways in gout.

Major TJ et al.

Nature Genetics, 2024

Aldehyde dehydrogenase 2 preserves kidney function by countering acrolein-induced metabolic and mitochondrial dysfunction.

Li SY et al.

Jci Insight, 2024

ALDH2 deficiency augments atherosclerosis through the USP14-cGAS-dependent polarization of proinflammatory macrophages.

Rui H et al.

Redox Biology, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Asian Flush Gene Variant Enhances Cellular Immunogenicity of COVID-19 Vaccine: Prospective Observation in the Japanese General Population.

Bogahawaththa S et al.

Vaccines, 2024

Impaired Osteogenesis in Human Induced Pluripotent Stem Cells with Acetaldehyde Dehydrogenase 2 Mutations.

Lim J et al.

International Journal of Stem Cells, 2024

Human genetics and epigenetics of alcohol use disorder.

Zhou H et al.

The Journal of Clinical Investigation, 2024

Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging.

Rieckher M et al.

Nucleic Acids Research, 2024

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