ADH1B 和 ALDH2 常见功能异常变异对痛风风险的独立影响。
Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk.
机构信息
Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama, 359-8513, Japan.
Department of Dermatology, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama, 359-8513, Japan.
出版信息
Sci Rep. 2017 May 31;7(1):2500. doi: 10.1038/s41598-017-02528-z.
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, 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.
痛风是由高尿酸血症引起的，饮酒是一个已确定的危险因素。乙醇脱氢酶（ADH）和醛脱氢酶（ALDH）是酒精代谢的关键酶。我们最近对痛风进行了全基因组关联研究和后续的精细定位研究，确定了 ALDH2 的 rs671 为痛风基因座。然而，痛风与 ADH1B 的常见变异体之间的关联迄今为止尚未报道，促使我们研究痛风与常见功能失调的 ADH1B（rs1229984）和 ALDH2（rs671）变异体之间的关联。我们使用了 1048 例临床定义的痛风病例和 1334 例日本男性对照。ADH1B 的 rs1229984（His48Arg）的“His 携带者”（His/His 或 His/Arg）显著增加了痛风风险（P=4.3×10，优势比=1.76），ALDH2 的 rs671（Glu504Lys）的“非 Lys 携带者（Glu/Glu）”也是如此。此外，ADH1B 和 ALDH2 的常见变异体与痛风独立相关。我们的研究结果同样表明，对这些变异体进行基因分型可以用于评估痛风风险。
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