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. 2024 Nov 11;38(1):16.
doi: 10.1007/s13577-024-01138-y.

Strong genetic effect on gout revealed by genetic risk score from meta-analysis of two genome-wide association studies

Akiyoshi Nakayama  1 , Yusuke Kawamura  1 , Masahiro Nakatochi  2 , Yu Toyoda  1   3 , Mayuko Nakajima  1 , Kazuki Maehara  1 , Mana Kirihara  1 , Seiko Shimizu  1 , Keitaro Matsuo  4 , Hirotaka Matsuo  5   6 ; Japan Gout Genomics Consortium (Japan Gout)
Collaborators, Affiliations

Strong genetic effect on gout revealed by genetic risk score from meta-analysis of two genome-wide association studies

Akiyoshi Nakayama et al. Hum Cell. .
No abstract available

Keywords: Dysuricemia; Genetic risk score; Genome-wide association study; Gout; Hyperuricemia; Urate/uric acid.

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Conflict of interest statement

Declarations Conflict of interest The authors declare no conflicts of interest. Ethical approval Data and sample collection for the cohorts participating in the present study were approved by the respective research ethics committees [National Defense Medical College (No. 4801) and Aichi Cancer Center (No. H2210001A)]. All the studies were performed according to the guidelines of the Declaration of Helsinki. Informed consent All the participants provided their written informed consent.

Figures

Fig. 1
Fig. 1
Involvement of NFAT5 in uric acid production. Fructose is generated from glucose via aldose reductase (AR) through polyol pathway. Fructose is then converted to fructose-1-phosphate (Fructose-1-P) via ketohexokinase (KHK, also known as fructokinase) with consuming adenosine triphosphate (ATP). Dephosphorylated ATP, or adenosine diphosphate (ADP) and adenosine monophosphate (AMP), is metabolized to inosine monophosphate (IMP), and finally to uric acid via xanthine oxidase (XO). Uric acid in turn stimulates transcription factors, NFAT5/TonEBP and MLXIPL/ChREBP, which respectively enhance AR and KHK and increase uric acid level in a positive feedback loop. See the Supplementary Discussion for further details
See this image and copyright information in PMC

References

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