Evidence map›Paper›PMID 32514006›Full record

SynthesisScientific reports2020

Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.

Sung Kweon Cho, Beomsu Kim, Woojae Myung, Yoosoo Chang, Seungho Ryu, Han-Na Kim, Hyung-Lae Kim, Po-Hsiu Kuo, Cheryl A Winkler, Hong-Hee Won

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. The Physiological and Pathological Role of Acyl-CoA Oxidation.International journal of molecular sciences · 2023
    Review
  8. Article
  9. Article
  10. SLC2A9 rs16890979 reduces uric acid absorption by kidney organoids.Frontiers in cell and developmental biology · 2023
    Article
  11. Article
  12. Review
  13. Article
  14. Urate Transporters in the Kidney: What Clinicians Need to Know.Electrolyte & blood pressure : E & BP · 2021
    Review
  15. Article
  16. Review
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

10 authors at 6 institutions in 3 countries.

Sung Kweon Cho *Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0002-5929-7932
Beomsu Kim *Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0001-7410-4273
Woojae MyungDepartment of Neuropsychiatry, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea.
Yoosoo ChangCenter for Cohort Studies, Total Healthcare Center, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0002-6945-9050
Seungho RyuCenter for Cohort Studies, Total Healthcare Center, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.ORCID http://orcid.org/0000-0002-3927-8646
Han-Na KimCenter for Cohort Studies, Total Healthcare Center, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Hyung-Lae KimDepartment of Biochemistry, Ewha Womans University, Seoul, Republic of Korea.
Po-Hsiu KuoDepartment of Public Health & Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.
Cheryl A WinklerMolecular Genetic Epidemiology Section, Basic Research Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA. winklerc@mail.nih.gov.
Hong-Hee WonSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea. wonhh@skku.edu.ORCID http://orcid.org/0000-0001-5719-0552
Samsung Medical Center · KREwha Womans University · KRKangbuk Samsung Hospital · KRFrederick National Laboratory for Cancer Research · USNational Taiwan University · TWSeoul National University Bundang Hospital · KR

Funding

Genetics of Renal Disease in African AmericansZIABC010022 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI WINKLER, CHERYL · 2009 to 2022
$8.9M
6 · The paper itself

Abstract

Increased serum uric acid (SUA) levels cause gout and are associated with multiple diseases, including chronic kidney disease. Previous genome-wide association studies (GWAS) have identified more than 180 loci that contribute to SUA levels. Here, we investigated genetic determinants of SUA level in the Korean population. We conducted a GWAS for SUA in 6,881 Korean individuals, calculated polygenic risk scores (PRSs) for common variants, and validated the association of low-frequency variants and PRS with SUA levels in 3,194 individuals. We identified two low-frequency and six common independent variants associated with SUA. Despite the overall similar effect sizes of variants in Korean and European populations, the proportion of variance for SUA levels explained by the variants was greater in the Korean population. A rare, nonsense variant SLC22A12 p.W258X showed the most significant association with reduced SUA levels, and PRSs of common variants associated with SUA levels were significant in multiple Korean cohorts. Interestingly, an East Asian-specific missense variant (rs671) in ALDH2 displayed a significant association on chromosome 12 with the SUA level. Further genetic epidemiological studies on SUA are needed in ethnically diverse cohorts to investigate rare or low-frequency variants and determine the influence of genetic and environmental factors on SUA.

Indexed as

AdultAldehyde Dehydrogenase, MitochondrialAsian PeopleChromosomes, Human, Pair 12FemaleGene FrequencyGenome-Wide Association StudyGenotypeGoutHumansHyperuricemiaMaleMiddle AgedOrganic Anion TransportersPolymorphism, Single NucleotideRepublic of KoreaAldehyde Dehydrogenase, MitochondrialOrganic Anion TransportersUric Acid

Identifiers

PMID32514006
PMCPMC7280503
OpenAlexW3033756519

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.