Alcohol Flushing Study

Over a quarter of people of East Asian ancestry, approximately 500 million worldwide, carry ALDH2*2, a loss-of-function genetic variant that impairs aldehyde dehydrogenase 2 (ALDH2) function. The *2 variant drives alcohol flushing by slowing acetaldehyde clearance and, even independent of alcohol use, is linked to hypertension, stroke, and myocardial infarction. While most common in East Asians, ALDH2 deficiency is not ancestry exclusive. A single-site genetic test (rs671) is a simple and accurate, whereas alcohol flushing symptom screening is unreliable. In particular, approximately one-third of East Asian Americans report lifetime alcohol abstention, so many *2 carriers never alcohol flush and would be missed without genotyping. Despite the penetrance, prevalence, and well-documented health risks, ALDH2 genetic testing is not  clinically practiced, and no established management and/or practice guidelines exist – an actionable gap for precision public health.

For more information about the ALDH2 deficiency watch this video.

For more information about ALDH2 watch this video

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This five-year study is funded by the National Heart, Lung, and Blood Institute, grant ID# 1K01HL173859-01

Here are the goals of the project:

AIM 1: Evaluate East Asian American community members’ perceptions of personal utility for ALDH2*2 genetic testing and preferences for screening.

AIM 2: Identify barriers and facilitators to implementation of ALDH2*2 genetic testing in clinical care.

AIM 3: Measure the effect of direct-to-consumer ALDH2*2 genetic testing and education on health behaviors.