Publications by authors named "Airi Akashi"
Article Synopsis
- Gout is a common arthritis caused by high levels of serum uric acid (SUA) and the formation of urate crystals.
- A specific genetic variant, rs2544390, found in the LRP2 gene, has been previously linked to SUA, but its association with gout in Japanese populations has produced mixed results.
- This study analyzed data from 1,208 gout patients and 1,223 controls, finding no significant link, but a meta-analysis of earlier studies confirmed a significant association, shedding light on gout's genetic factors and potential treatment targets.
Background: Gout is a common disease resulting from hyperuricemia which causes acute arthritis. A recent genome-wide association study (GWAS) of gout identified three new loci for gout in Han Chinese: regulatory factor X3 (RFX3), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), and breast carcinoma amplified sequence 3 (BCAS3). The lack of any replication studies of these three loci using other population groups prompted us to perform a replication study with Japanese clinically defined gout cases and controls.
View Article and Find Full Text PDFObjective: Previous studies have suggested an association between gout susceptibility and common dysfunctional variants in ATP-binding cassette transporter subfamily G member 2/breast cancer resistance protein (), including rs72552713 (Q126X) and rs2231142 (Q141K). However, the association of rare variants with gout is unknown. Therefore, we investigated the effects of rare variants on gout susceptibility in this study.
View Article and Find Full Text PDFGout 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.
View Article and Find Full Text PDFGout/hyperuricemia is a common multifactorial disease having typical environmental risks. Recently, common dysfunctional variants of ABCG2, a urate exporter gene also known as BCRP, are revealed to be a major cause of gout/hyperuricemia. Here, we compared the influence of ABCG2 dysfunction on serum uric acid (SUA) levels with other typical risk factors in a cohort of 5,005 Japanese participants.
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