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Article

Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.

Rheumatology (Oxford, England) - 2 Mar 2022

Nakayama Akiyoshi, Kawamura Yusuke, Toyoda Yu, Shimizu Seiko, Kawaguchi Makoto, Aoki Yuka, Takeuchi Kenji, Okada Rieko, Kubo Yoko, Imakiire Toshihiko, Iwasawa Satoko, Nakashima Hiroshi, Tsunoda Masashi, Ito Keiichi, Kumagai Hiroo, Takada Tappei, Ichida Kimiyoshi, Shinomiya Nariyoshi, Matsuo Hirotaka

Abstract excerpt

OBJECTIVES: Up to 0.3% of Japanese have hypouricaemia. Most cases appear to result from a hereditary disease, renal hypouricaemia (RHUC), which causes exercise-induced acute kidney injury and urolithiasis. However, to what extent RHUC accounts for hypouricaemia is not known. We therefore investigated its frequency and evaluated its risks by genotyping a general Japanese population. METHODS: A cohort of 4993...

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Identifiers

PMID: 34255816
DOI: 10.1093/rheumatology/keab545
PMCID: PMC8889275

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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