Format

Send to

Choose Destination
See comment in PubMed Commons below
BMC Med Genet. 2014 Apr 2;15:40. doi: 10.1186/1471-2350-15-40.

Functional polymorphism in aldehyde dehydrogenase-2 gene associated with risk of tuberculosis.

Author information

  • 1Department of Genetic Epidemiology, SNP Genetics, Inc,, 1 Shinsu-dong, Mapo-gu, Seoul 121-742, Republic of Korea. hdshin@sogang.ac.kr.

Abstract

BACKGROUND:

The well-known genetic polymorphisms in ADH1B(His47Arg) and ALDH2(Glu487Lys) have dramatic effects on the rate of metabolizing alcohol and acetaldehyde. We investigated possible involvement of these functional polymorphisms in other common complex-trait diseases.

METHODS:

The genetic effects of these two polymorphisms on hepatitis, asthma, type-2 diabetes mellitus (T2DM), and tuberculosis (TB) were examined in a Korean population.

RESULTS:

We demonstrated that the well-known functional polymorphism of a primary alcohol-metabolizing enzyme (ALDH2 Glu487Lys) has a strong genetic association with the risk of TB. The frequency of the minor allele (ALDH2*487Lys) was found to be much lower in TB patients (freq. = 0.099/n = 477) than among controls (freq. = 0.162/n = 796) (P = 0.00001, OR (95% confidential interval) = 0.57 (0.45-0.74)). Our data may indicate that TB was once an endemic disease, which exerted selection pressure for higher frequencies of ALDH2*487Lys in Asian populations. In addition, the calculated attributable fraction (AF) indicates that 39.5% of TB patients can attribute their disease to the detrimental effects of ALDH2Glu487Glu.

CONCLUSION:

Our results suggest that this polymorphism is one of the genetic components of TB, at least in the Korean population.

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for BioMed Central Icon for PubMed Central
    Loading ...
    Write to the Help Desk