SynthesisAmerican journal of human genetics2012
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
Synthesis in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 9 of them syntheses that pooled it.
What it found
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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.
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.
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Who cites it
48 citing papers in PubMed, 9 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.American journal of human genetics · 2017Pooled it
- Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.American journal of human genetics · 2016Pooled it
- Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin.American journal of human genetics · 2016Pooled it
- Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.Nature communications · 2015Pooled it
- Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.Molecular psychiatry · 2015Pooled it
- Trans-ethnic meta-analysis of white blood cell phenotypes.Human molecular genetics · 2014Pooled it
- Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.Nature genetics · 2014Pooled it
- Genome-wide association study of age at menarche in African-American women.Human molecular genetics · 2013Pooled it
- Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.PLoS genetics · 2013Pooled it
- WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.Molecular syndromology · 2026Article
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- Type II Transmembrane Serine Proteases as Modulators in Adipose Tissue Phenotype and Function.Biomedicines · 2023Review
- Glucokinase regulatory protein: a balancing act between glucose and lipid metabolism in NAFLD.Frontiers in endocrinology · 2023Review
- Polygenic Risk Score Improves Cataract Prediction in East Asian Population.Biomedicines · 2022Article
- Pleiotropic Effects of Common and RareGenes · 2022Article
- Protein Nutritional Status and Frailty: A Mendelian Randomization Study.The Journal of nutrition · 2022Article
- Evaluation of intraperitoneal administration of morphine on post-operative pain management after ovariohysterectomy in dogs.Veterinary medicine and science · 2022Article
- Genome-wide association study and genomic heritabilities for blood protein levels in Lori-Bakhtiari sheep.Scientific reports · 2021Article
- Hepsin enhances liver metabolism and inhibits adipocyte browning in mice.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
102 authors at 20 institutions in 10 countries.
Funding
Abstract
Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-analysis of European-ancestry and Japanese genome-wide association studies, we identified six loci at genome-wide significance (p < 5 × 10(-8)) for serum albumin (HPN-SCN1B, GCKR-FNDC4, SERPINF2-WDR81, TNFRSF11A-ZCCHC2, FRMD5-WDR76, and RPS11-FCGRT, in up to 53,190 European-ancestry and 9,380 Japanese individuals) and three loci for total protein (TNFRS13B, 6q21.3, and ELL2, in up to 25,539 European-ancestry and 10,168 Japanese individuals). We observed little evidence of heterogeneity in allelic effects at these loci between groups of European and Japanese ancestry but obtained substantial improvements in the resolution of fine mapping of potential causal variants by leveraging transethnic differences in the distribution of linkage disequilibrium. We demonstrated a functional role for the most strongly associated serum albumin locus, HPN, for which Hpn knockout mice manifest low plasma albumin concentrations. Other loci associated with serum albumin harbor genes related to ribosome function, protein translation, and proteasomal degradation, whereas those associated with serum total protein include genes related to immune function. Our results highlight the advantages of transethnic meta-analysis for the discovery and fine mapping of complex trait loci and have provided initial insights into the underlying genetic architecture of serum protein concentrations and their association with human disease.
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Registered trials
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.