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ID 116719
Author
Kawamura, Yusuke National Defense Medical College
Nakayama, Akiyoshi National Defense Medical College
Shimizu, Seiko National Defense Medical College
Toyoda, Yu National Defense Medical College|The University of Tokyo
Nishida, Yuichiro Saga University
Hishida, Asahi Nagoya University
Shibuya, Kenichi Kagoshima University
Tamura, Takashi Nagoya University
Kawaguchi, Makoto National Defense Medical College
Suzuki, Satoko National Defense Medical College
Iwasawa, Satoko National Defense Medical College
Nakashima, Hiroshi National Defense Medical College
Ibusuki, Rie Kagoshima University
Hara, Megumi Saga University
Takeuchi, Kenji Nagoya University
Takada, Tappei The University of Tokyo
Tsunoda, Masashi National Defense Medical College
Takezaki, Toshiro Kagoshima University
Tanaka, Keitaro Saga University
Ichida, Kimiyoshi Tokyo University of Pharmacy and Life Sciences|Jikei University
Wakai, Kenji Nagoya University
Shinomiya, Nariyoshi National Defense Medical College
Matsuo, Hirotaka National Defense Medical College
Keywords
URAT1/SLC22A12
renal hypouricemia (RHUC)
serum uric acid (SUA)
fractional excretion of uric acid (FEUA)
Content Type
Journal Article
Description
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.
Journal Title
Biomedicines
ISSN
22279059
Publisher
MDPI
Volume
9
Issue
8
Start Page
1012
Published Date
2021-08-13
Rights
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
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language
eng
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departments
Medical Sciences