A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-12

AUTHORS

Akiyoshi Nakayama, Hirotaka Matsuo, Takuya Shimizu, Hiraku Ogata, Yuzo Takada, Hiroshi Nakashima, Takahiro Nakamura, Seiko Shimizu, Toshinori Chiba, Masayuki Sakiyama, Chisaki Ushiyama, Tappei Takada, Katsuhisa Inoue, Sayo Kawai, Asahi Hishida, Kenji Wakai, Nobuyuki Hamajima, Kimiyoshi Ichida, Yutaka Sakurai, Yukio Kato, Toru Shimizu, Nariyoshi Shinomiya

ABSTRACT

Gout is a common disease caused by hyperuricemia, which shows elevated serum uric acid (SUA) levels. From a viewpoint of urate handling in humans, gout patients can be divided into those with renal overload (ROL) gout with intestinal urate underexcretion, and those with renal underexcretion (RUE) gout. Recent genome-wide association studies (GWAS) revealed an association between SUA and a variant in human monocarboxylate transporter 9 (MCT9/SLC16A9) gene. Although the function of MCT9 remains unclear, urate is mostly excreted via intestine and kidney where MCT9 expression is observed. In this study, we investigated the relationship between a variant of MCT9 and gout in 545 patients and 1,115 healthy volunteers. A missense variant of MCT9 (K258T), rs2242206, significantly increased the risk of ROL gout (p = 0.012), with odds ratio (OR) of 1.28, although it revealed no significant association with all gout cases (p = 0.10), non-ROL gout cases (p = 0.83), and RUE gout cases (p = 0.34). In any case groups and the control group, minor allele frequencies of rs2242206 were >0.40. Therefore, rs2242206 is a common missense variant and is revealed to have an association with ROL gout, indicating that rs2242206 relates to decreased intestinal urate excretion rather than decreased renal urate excretion. Our study provides clues to better understand the pathophysiology of gout as well as the physiological roles of MCT9. More... »

PAGES

133-136

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13577-013-0073-8

DOI

http://dx.doi.org/10.1007/s13577-013-0073-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027771808

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23990105


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