Menu
Currency
GWAS Study

Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

Nakatochi M, Kanai M, Nakayama A et al.

30993211 PubMed ID
GWAS Study Type
223038 Participants
35 Views
Scroll to explore
Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NM
Nakatochi M
KM
Kanai M
NA
Nakayama A
HA
Hishida A
KY
Kawamura Y
IS
Ichihara S
AM
Akiyama M
IH
Ikezaki H
FN
Furusyo N
SS
Shimizu S
YK
Yamamoto K
HM
Hirata M
OR
Okada R
KS
Kawai S
KM
Kawaguchi M
NY
Nishida Y
SC
Shimanoe C
IR
Ibusuki R
TT
Takezaki T
NM
Nakajima M
TM
Takao M
OE
Ozaki E
MD
Matsui D
NT
Nishiyama T
SS
Suzuki S
TN
Takashima N
KY
Kita Y
EK
Endoh K
KK
Kuriki K
UH
Uemura H
AK
Arisawa K
OI
Oze I
MK
Matsuo K
NY
Nakamura Y
MH
Mikami H
TT
Tamura T
NH
Nakashima H
NT
Nakamura T
KN
Kato N
MK
Matsuda K
MY
Murakami Y
MT
Matsubara T
NM
Naito M
KM
Kubo M
KY
Kamatani Y
SN
Shinomiya N
YM
Yokota M
WK
Wakai K
OY
Okada Y
MH
Matsuo H
Chapter II

Abstract

Summary of the research findings

Gout is a common arthritis caused by elevated serum uric acid (SUA) levels. Here we investigated loci influencing SUA in a genome-wide meta-analysis with 121,745 Japanese subjects. We identified 8948 variants at 36 genomic loci (P<5 × 10-8) including eight novel loci. Of these, missense variants of SESN2 and PNPLA3 were predicted to be damaging to the function of these proteins; another five loci-TMEM18, TM4SF4, MXD3-LMAN2, PSORS1C1-PSORS1C2, and HNF4A-are related to cell metabolism, proliferation, or oxidative stress; and the remaining locus, LINC01578, is unknown. We also identified 132 correlated genes whose expression levels are associated with SUA-increasing alleles. These genes are enriched for the UniProt transport term, suggesting the importance of transport-related genes in SUA regulation. Furthermore, trans-ethnic meta-analysis across our own meta-analysis and the Global Urate Genetics Consortium has revealed 15 more novel loci associated with SUA. Our findings provide insight into the pathogenesis, treatment, and prevention of hyperuricemia/gout.

121,745 Japanese ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

223038
Total Participants
GWAS
Study Type
Yes
Replicated
at least 101,293 European ancestry individuals
Replication Participants
East Asian, European
Ancestry
Japan
Recruitment Country
Chapter IV

AI-Generated Summary

AI-generated by DNAGENICS

Independent AI summary of health and genetic findings from the published study

Important: This summary is AI-generated by DNAGENICS for informational purposes only. It was not created by, affiliated with, or endorsed by the researchers behind the original publication, and is based solely on that published research. It may contain errors or omissions. DNAGENICS disclaims all liability for any inaccuracies or consequences arising from use of this information. Verify all information against the original publication. This is not professional scientific review or medical advice.

AI Summary In Progress

Our AI-generated summary of this publication is being prepared. Please check back soon.