Genetic-epidemiological analysis of hypouricemia from 4,993 Japanese on nonfunctional variants of URAT1/SLC22A12 gene.

Akiyoshi NakayamaYusuke KawamuraYu ToyodaSeiko ShimizuMakoto KawaguchiYuka AokiKenji TakeuchiRieko OkadaYoko KuboToshihiko ImakiireSatoko IwasawaHiroshi NakashimaMasashi TsunodaKeiichi ItoHiroo KumagaiTappei TakadaKimiyoshi IchidaNariyoshi ShinomiyaHirotaka Matsuo

Published in: Rheumatology (Oxford, England) (2021)

Our study accurately reveals the prevalence of RHUC and provides genetic evidence for its definition (SUA ≤ 2.0 mg/dl). We also show that individuals with SUA of ≤ 3.0 mg/dl, especially males, are prone to RHUC. Our findings will help to promote a better epidemiological understanding of RHUC as well as more accurate diagnosis, especially in males with mild hypouricemia.

Keyphrases

copy number
genome wide
risk factors
high resolution
gene expression
mass spectrometry
transcription factor