Work

Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk

Year: 2017

Type: article

Study design: Observational Study

Abstract: Gout is caused by hyperuricemia, with alcohol consumption being an established risk factor. Alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) are crucial enzymes for alcohol metabolism. We recently performed a genome-wide association study of gout and a subsequent fine-mapping study which identified rs671 of ALDH2 as a gout locus. However, the association between gout and common variants of ADH1B has hitherto remained unreported, prompting us to investigate the association between gout and common dysfunctional variants of ADH1B (rs1229984) and ALDH2 (rs671). We used 1,048 clinically defined gout cases and 1,334 controls of Japanese male. The “His carrier” (His/His or His/Arg) of rs1229984 (His48Arg) of ADH1B significantly increased gout risk (P = 4.3 × 10−4, odds ratio = 1.76), as did the “non-Lys carrier (Glu/Glu)” of rs671 (Glu504Lys) of ALDH2. Furthermore, common variants of ADH1B and ALDH2 are independently associated with gout. Our findings likewise suggest that genotyping these variants can be useful for the evaluation of gout risk.

Source: Scientific Reports

DOI: 10.1038/s41598-017-02528-z

Authors: Masayuki Sakiyama, Hirotaka Matsuo, Airi Akashi, Seiko Shimizu, Toshihide Higashino, Makoto Kawaguchi, Akiyoshi Nakayama, Mariko Naito, Sayo Kawai, Hiroshi Nakashima, Yutaka Sakurai, Kimiyoshi Ichida, Toru Shimizu, Hiroshi Ooyama, Nariyoshi Shinomiya

Institutions: National Defense Medical College, Nagoya University, Tokyo University of Pharmacy and Life Sciences, Kyoto Industrial Health Association

Language: English

Topic: Gout, Hyperuricemia, Uric Acid

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,690

Funders: National Defense Medical College, Ministry of Education, Culture, Sports, Science and Technology, Gout Research Foundation of Japan, Ministry of Health, Labour and Welfare, Ministry of Defense, Japan Society for the Promotion of Science

Awards: Scientific Support Programs for Cancer Research Grant-in-Aid for Scientific Research on Innovative Areas, G232248983, G2628512519, Platform for Advanced Genome Science, Study on supports for molecular cohort studies, Development of new dual inhibitors for c-Met targeting both allosteric and catalytic sites, Evaluation of urate excretion mechanism at human intestinal epithelium using molecular genetic epidemiological analysis, Practical application to preventive medicine by molecular epidemiological analyses on gout using international consortium framework from Japan, G4512404885, G53314759, G6430561316, Investigation of pathophysiology of gout by molecular genetic epidemiological analysis and application to genome-tailored medicine, G724245799, G7466298292, Platform of large scale and high quality genomics and bioinformatics: Towards the advancement of genome sciences in academia, Platform of Supporting Cohort Study and Biospecimen Analysis, G908791741

OpenAlex ID: W2618328465

FWCI: 2.439

Cites: 40

Cited by: 19

Related to: 10