Evidence map›Paper›PMID 36221101›Full record

ArticleArthritis research & therapy2022

Polygenic risk score trend and new variants on chromosome 1 are associated with male gout in genome-wide association study.

Ya-Sian Chang, Chien-Yu Lin, Ting-Yuan Liu, Chung-Ming Huang, Chin-Chun Chung, Yu-Chia Chen, Fuu-Jen Tsai, Jan-Gowth Chang, Shun-Jen Chang

Open access · goldAbstract read
In one paragraph

Article in Arthritis research & therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 14 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Ya-Sian Chang *Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital, China Medical University, Taichung, Taiwan.
Chien-Yu Lin *Graduate Institute of Clinical Medical Sciences, School of Medicine, China Medical University, Taichung, Taiwan.
Ting-Yuan LiuCenter for Precision Medicine and Epigenome Research Center, China Medical University Hospital, China Medical University, Taichung, Taiwan.
Chung-Ming HuangGraduate Institute of Integrated Medicine, College of Medicine, China Medical University, Taichung, Taiwan.
Chin-Chun ChungCenter for Precision Medicine and Epigenome Research Center, China Medical University Hospital, China Medical University, Taichung, Taiwan.
Yu-Chia ChenCenter for Precision Medicine and Epigenome Research Center, China Medical University Hospital, China Medical University, Taichung, Taiwan.
Fuu-Jen Tsai *Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan. d0704@mail.cmuh.org.tw.
Jan-Gowth Chang *Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital, China Medical University, Taichung, Taiwan. d6781@mail.cmuh.org.tw.
Shun-Jen Chang *Center for Precision Medicine and Epigenome Research Center, China Medical University Hospital, China Medical University, Taichung, Taiwan. changsj1104@gmail.com.ORCID 0000-0002-9273-3249
China Medical University · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGout is a highly hereditary disease, but not all those carrying well-known risk variants have developing gout attack even in hyperuricemia status. We performed a genome-wide association study (GWAS) and polygenic risk score (PRS) analysis to illustrate the new genetic architectures of gout and asymptomatic hyperuricemia (AH).

methodsGWAS was performed to identify variants associated with gout/AH compared with normouricemia. The participants were males, enrolled from the Taiwan Biobank and China Medical University, and divided into discovery (n=39,594) and replication (n=891) cohorts for GWAS. For PRS analysis, the discovery cohort was grouped as base (n=21,814) and target (n=17,780) cohorts, and the score was estimated by grouping the polymorphisms into protective or not for the phenotypes in the base cohort.

resultsThe genes ABCG2 and SLC2A9 were found as the major genetic factors governing gouty and AH, and even in those carrying the rs2231142 (ABCG2) wild-genotype. Surprisingly, variants on chromosome 1, such as rs7546668 (DNAJC16), rs10927807 (AGMAT), rs9286836 (NUDT17), rs4971100 (TRIM46), rs4072037 (MUC1), and rs2974935 (MTX1), showed significant associations with gout in both discovery and replication cohorts (all p-values < 1e-8). Concerning the PRS, the rates of gout and AH increased with increased quartile PRS in those SNPs having risk effects on the phenotypes; on the contrary, gout/AH rates decreased with increased quartile PRS in those protective SNPs.

conclusionsWe found new variants on chromosome 1 significantly relating to gout, and PRS predicts the risk of developing gout/AH more robustly based on the SNPs' effect types on the trait.

Indexed as

GoutHyperuricemiaATP Binding Cassette Transporter, Subfamily G, Member 2Chromosomes, Human, Pair 1FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGlucose Transport Proteins, FacilitativeHumansMaleNeoplasm ProteinsPolymorphism, Single NucleotideRisk FactorsUric AcidATP Binding Cassette Transporter, Subfamily G, Member 2Glucose Transport Proteins, FacilitativeNeoplasm ProteinsSLC2A9 protein, humanUric AcidChromosome 1Genome-wide association studyGoutHyperuricemiaPolygenic risk score

Identifiers

PMID36221101
PMCPMC9552457
OpenAlexW4304165849

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.