Functional polymorphism in aldehyde dehydrogenase-2 gene associated with risk of tuberculosis
- Authors
- Park, Seung Kyu; Park, Choon-Sik; Lee, Hyo-Suk; Park, Kyong Soo; Park, Byung Lae; Cheong, Hyun Sub; Shin, Hyoung Doo
- Issue Date
- 2-Apr-2014
- Publisher
- BioMed Central
- Keywords
- Aldehyde dehydrogenase; Tuberculosis; Polymorphism
- Citation
- BMC Medical Genetics, v.15
- Journal Title
- BMC Medical Genetics
- Volume
- 15
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/12263
- DOI
- 10.1186/1471-2350-15-40
- ISSN
- 1471-2350
- 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.
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Collections - College of Medicine > Department of Internal Medicine > 1. Journal Articles
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