Evidence map›Paper›PMID 22229870›Full record

ArticleAnnals of human genetics2012

Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.

Rebekah Karns, Ge Zhang, Guangyun Sun, Subba Rao Indugula, Hong Cheng, Dubravka Havas-Augustin, Natalija Novokmet, Dusko Rudan, Zijad Durakovic, Sasa Missoni and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in Annals of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
4.3field-weighted citation impact, top 5% 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

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Polymorphisms ofMedicina (Kaunas, Lithuania) · 2019
    Article
  7. Common variants in theHereditas · 2019
    Article
  8. Polymorphism of ABCG2 Gene in Hyperuricemia Patients of Han And Uygur Ethnicity with Phlegm/Non-Phlegm Block in Xinjiang, China.Medical science monitor : international medical journal of experimental and clinical research · 2018
    Article
  9. Article
  10. Article
  11. An update on the genetics of hyperuricaemia and gout.Nature reviews. Rheumatology · 2018
    Review
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
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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

13 authors at 4 institutions in 2 countries.

Rebekah KarnsCenter for Genome Information, Department of Environmental Health, University of Cincinnati, and Cincinnati Children's Hospital, Cincinnati, OH 45267, USA.
Ge Zhang
Guangyun Sun
Subba Rao Indugula
Hong Cheng
Dubravka Havas-Augustin
Natalija Novokmet
Dusko Rudan
Zijad Durakovic
Sasa Missoni
Ranajit Chakraborty
Pavao Rudan
Ranjan Deka
Institute for Anthropological Research · HRUniversity of Cincinnati · USCincinnati Children's Hospital Medical Center · USUniversity of North Texas · US

Funding

REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 1992 to 2022
$35.4M
Molecular Epidemiology in Children's Environmental Health Training Program (MECEH)T32ES010957 · NIEHS · UNIVERSITY OF CINCINNATI · PI Kelly J Brunst · 2001 to 2026
$11.1M
Genetics of Metabolic Syndrome in an Island PopulationR01DK069845 · NIDDK · UNIVERSITY OF CINCINNATI · PI DEKA, RANJAN · 2006 to 2009
$2.1M
NIDDK NIH HHS R01 DK069845NIEHS NIH HHS P30 ES006096NIEHS NIH HHS T32 ES010957
6 · The paper itself

Abstract

A genome-wide association study of serum uric acid (SUA) laevels was performed in a relatively isolated population of European descent from an island of the Adriatic coast of Croatia. The study sample included 532 unrelated and 768 related individuals from 235 pedigrees. Inflation due to relatedness was controlled by using genomic control. Genetic association was assessed with 2,241,249 single nucleotide polymorphisms (SNPs) in 1300 samples after adjusting for age and gender. Our study replicated four previously reported SUA loci (SLC2A9, ABCG2, RREB1, and SLC22A12). The strongest association was found with a SNP in SLC2A9 (rs13129697, P=2.33×10(-19)), which exhibited significant gender-specific effects, 35.76 μmol/L (P=2.11×10(-19)) in females and 19.58 μmol/L (P=5.40×10(-5)) in males. Within this region of high linkage disequilibrium, we also detected a strong association with a nonsynonymous SNP, rs16890979 (P=2.24×10(-17)), a putative causal variant for SUA variation. In addition, we identified several novel loci suggestive of association with uric acid levels (SEMA5A, TMEM18, SLC28A2, and ODZ2), although the P-values (P<5×10(-6)) did not reach the threshold of genome-wide significance. Together, these findings provide further confirmation of previously reported uric-acid-related genetic variants and highlight suggestive new loci for additional investigation.

Indexed as

Polymorphism, Single NucleotideCroatiaFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleUric AcidUric Acid

Identifiers

PMID22229870
PMCPMC3302578
OpenAlexW2140620957

What OpenQuestion holds

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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.