Subtype-specific gout susceptibility loci and enrichment of selection pressure on
ATP Binding Cassette Transporter, Subfamily G, Member 2
/ genetics
Aldehyde Dehydrogenase, Mitochondrial
/ genetics
Case-Control Studies
Genetic Loci
Genetic Predisposition to Disease
/ ethnology
Genome-Wide Association Study
Genotype
Gout
/ epidemiology
Humans
Incidence
Japan
Male
Neoplasm Proteins
/ genetics
Phenotype
Prognosis
Reference Values
Risk Assessment
Severity of Illness Index
Japanese
genome-wide association study (GWAS)
gout/hyperuricaemia
selection pressure analysis
subtype specific locus
Journal
Annals of the rheumatic diseases
ISSN: 1468-2060
Titre abrégé: Ann Rheum Dis
Pays: England
ID NLM: 0372355
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
15
11
2019
revised:
13
02
2020
accepted:
17
02
2020
pubmed:
3
4
2020
medline:
8
7
2020
entrez:
3
4
2020
Statut:
ppublish
Résumé
Genome-wide meta-analyses of clinically defined gout were performed to identify subtype-specific susceptibility loci. Evaluation using selection pressure analysis with these loci was also conducted to investigate genetic risks characteristic of the Japanese population over the last 2000-3000 years. Two genome-wide association studies (GWASs) of 3053 clinically defined gout cases and 4554 controls from Japanese males were performed using the Japonica Array and Illumina Array platforms. About 7.2 million single-nucleotide polymorphisms were meta-analysed after imputation. Patients were then divided into four clinical subtypes (the renal underexcretion type, renal overload type, combined type and normal type), and meta-analyses were conducted in the same manner. Selection pressure analyses using singleton density score were also performed on each subtype. In addition to the eight loci we reported previously, two novel loci, Our findings on subtype GWAS meta-analyses and selection pressure analysis of gout will assist elucidation of the subtype-dependent molecular targets and evolutionary involvement among genotype, phenotype and subtype-specific tailor-made medicine/prevention of gout and hyperuricaemia.
Identifiants
pubmed: 32238385
pii: annrheumdis-2019-216644
doi: 10.1136/annrheumdis-2019-216644
pmc: PMC7213308
doi:
Substances chimiques
ABCG2 protein, human
0
ATP Binding Cassette Transporter, Subfamily G, Member 2
0
Neoplasm Proteins
0
ALDH2 protein, human
EC 1.2.1.3
Aldehyde Dehydrogenase, Mitochondrial
EC 1.2.1.3
Types de publication
Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
657-665Investigateurs
Katsuhisa Inoue
(K)
Tomoya Yasujima
(T)
Hiroaki Yuasa
(H)
Hiroaki Ikezaki
(H)
Masayuki Murata
(M)
Keito Morimoto
(K)
Mitsuhiro Yokota
(M)
Sahoko Ichihara
(S)
Tatsuaki Matsubara
(T)
Toshimitsu Ito
(T)
Miki Ueno
(M)
Kimiko Hayano
(K)
Kunio Mizutari
(K)
Akihiro Shiotani
(A)
Yuka Miyoshi
(Y)
Satoko Suzuki
(S)
Satoko Iwasawa
(S)
Yuka Aoyagi
(Y)
Yuka Aoki
(Y)
Tatsuya Saitoh
(T)
Commentaires et corrections
Type : CommentIn
Informations de copyright
© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: TTakada, NS and HMatsuo have a patent pending based on the work reported in this paper.
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