論文

国際誌
2021年8月13日

A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals.

Biomedicines
  • Yusuke Kawamura
  • Akiyoshi Nakayama
  • Seiko Shimizu
  • Yu Toyoda
  • Yuichiro Nishida
  • Asahi Hishida
  • Sakurako Katsuura-Kamano
  • Kenichi Shibuya
  • Takashi Tamura
  • Makoto Kawaguchi
  • Satoko Suzuki
  • Satoko Iwasawa
  • Hiroshi Nakashima
  • Rie Ibusuki
  • Hirokazu Uemura
  • Megumi Hara
  • Kenji Takeuchi
  • Tappei Takada
  • Masashi Tsunoda
  • Kokichi Arisawa
  • Toshiro Takezaki
  • Keitaro Tanaka
  • Kimiyoshi Ichida
  • Kenji Wakai
  • Nariyoshi Shinomiya
  • Hirotaka Matsuo
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記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.3390/biomedicines9081012

BACKGROUND: Renal hypouricemia (RHUC) is characterized by a low serum uric acid (SUA) level and high fractional excretion of uric acid (FEUA). Further studies on FEUA in hypouricemic individuals are needed for a more accurate diagnosis of RHUC. METHODS: In 30,685 Japanese health-examination participants, we genotyped the two most common nonfunctional variants of URAT1 (NFV-URAT1), W258X (rs121907892) and R90H (rs121907896), in 1040 hypouricemic individuals (SUA ≤ 3.0 mg/dL) and 2240 individuals with FEUA data. The effects of NFV-URAT1 on FEUA and SUA were also investigated using linear and multiple regression analyses. RESULTS: Frequency of hypouricemic individuals (SUA ≤ 3.0 mg/dL) was 0.97% (male) and 6.94% (female) among 30,685 participants. High frequencies of those having at least one allele of NFV-URAT1 were observed in 1040 hypouricemic individuals. Furthermore, NFV-URAT1 significantly increased FEUA and decreased SUA, enabling FEUA and SUA levels to be estimated. Conversely, FEUA and SUA data of hypouricemic individuals are revealed to be useful to predict the number of NFV-URAT1. CONCLUSIONS: Our findings reveal that specific patterns of FEUA and SUA data assist with predicting the number of nonfunctional variants of causative genes for RHUC, and can also be useful for practical diagnosis of RHUC even before genetic tests.

リンク情報
DOI
https://doi.org/10.3390/biomedicines9081012
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/34440216
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393673
ID情報
  • DOI : 10.3390/biomedicines9081012
  • PubMed ID : 34440216
  • PubMed Central 記事ID : PMC8393673

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