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

Yusuke KawamuraAkiyoshi NakayamaSeiko ShimizuYu Toyoda Yuichiro NishidaAsahi HishidaSakurako Katsuura-KamaoKenichi ShibuyaTakashi TamuraMakoto KawaguchiSatoko SuzukiSatoko IwasawaHiroshi NakashimaRie IbusukiHirokazu UemuraMegumi HaraKenji Takeuchi Tappei TakadaMasashi TsunodaKokichi ArisawaToshiro TakezakiKeitaro TanakaKimiyoshi IchidaKenji WakaiNariyoshi ShinomiyaHirotaka Matsuo

Published in: Biomedicines (2021)

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.

Keyphrases

genome wide
copy number
dna methylation
neuroendocrine tumors
electronic health record
big data
gene expression
data analysis
case control
transcription factor
artificial intelligence
bioinformatics analysis