Overview
ALDH2 encodes an enzyme that converts toxic acetaldehyde (from alcohol) into harmless acetic acid. The Glu504Lys variant (*2 allele) results in severely reduced enzyme activity and causes the “Asian Flush” syndrome.
12q24.12 (Chromosome 12)
Detoxification
Autosomal dominant (Flush)
~40% in East Asia, rare in Europe
Function & Significance
ALDH2 is the second step in alcohol metabolism:
- Alcohol → Acetaldehyde (by ADH enzymes)
- Acetaldehyde → Acetic Acid (by ALDH2) ⚠️
- Acetic Acid → CO₂ + H₂O (harmless)
⚠️ Acetaldehyde is highly toxic!
Acetaldehyde is:
- Carcinogenic: Group 1 carcinogen (IARC)
- DNA-damaging: Causes mutations
- Toxic: 10-30x more toxic than alcohol
- Responsible for Hangovers: Headaches, nausea
In cases of defective ALDH2, acetaldehyde accumulates in the body!
🧬 Relevant SNPs
The Glu504Lys variant (rs671):
12:111803962
/
Significance: Glu504Lys (ALDH2*2)
• GG (*1/*1): Normal ALDH2 activity, normal alcohol metabolism
• GA (*1/*2): Reduced activity (~6%), Asian Flush, increased cancer risk
• AA (*2/*2): No activity, severe flush, very high cancer risk
🚨 Asian Flush – Symptoms
Upon alcohol consumption with the *2 allele (GA or AA):
- Facial Flushing: Within minutes
- Tachycardia: Increased heart rate
- Nausea: Strong discomfort
- Headaches: Immediately after alcohol
- Lower Blood Pressure: Dizziness
Cause: Acetaldehyde accumulation (up to 20x higher than normal!)
☠️ EXTREMELY HIGH CANCER RISK!
ALDH2*2 carriers who still drink alcohol:
- Esophageal Carcinoma: 10-100 fold increased risk!
- Head and Neck Tumors: Severely increased risk
- Stomach Cancer: Increased risk
- Liver Cancer: Increased risk
URGENT: *2 carriers should NOT drink alcohol! Even small amounts are dangerous.
✅ Positive Aspect
ALDH2*2 as natural protection:
- Lower Alcoholism Rate: Unpleasant symptoms protect against addiction
- Warning Signal: The body immediately shows that alcohol is harmful
- Healthier Lifestyle: Many *2 carriers avoid alcohol entirely
Recommendation: Use this genetic “advantage” and abstain from alcohol!
📚 Data Sources
The information on this page is based on the following scientific sources:
- OMIM: #100650 – Online Mendelian Inheritance in Man
- dbSNP: rs671 – SNP Database (NCBI)
- ClinVar: Clinical Variant Database (NCBI)
- PubMed: ALDH2 and Cancer Risk
- IARC: Acetaldehyde Carcinogenicity
Last Update: February 2026
Biological Function
Associated Conditions
Analyzed Markers
Glu504Lys - AA or GA: Asian Flush, alcohol intolerance, greatly increased cancer risk with alcohol