SynthesisBMC medical genetics2010
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
Synthesis in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 4 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
31 citing papers in PubMed, 4 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- Genome-wide association study of hospitalized patients and acute kidney injury.Kidney international · 2024Pooled it
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.Nature communications · 2016Pooled it
- Common variants in Mendelian kidney disease genes and their association with renal function.Journal of the American Society of Nephrology : JASN · 2013Pooled it
- Genome-wide association and functional follow-up reveals new loci for kidney function.PLoS genetics · 2012Pooled it
- Genome-Wide Association Study of Plasma Sodium Concentrations with and without Exposure to Thiazide Diuretics.Journal of the American Society of Nephrology : JASN · 2025Article
- Clinical and Metabolic Signatures ofKidney international reports · 2025Article
- Systematic mediation and interaction analyses of kidney function genetic loci in a general population study.PloS one · 2025Article
- Advances in uromodulin biology and potential clinical applications.Nature reviews. Nephrology · 2024Review
- Epigenome-wide analysis identifies methylome profiles linked to obsessive-compulsive disorder, disease severity, and treatment response.Molecular psychiatry · 2023Article
- Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- The Good and the Bad of SHROOM3 in Kidney Development and Disease: A Narrative Review.Canadian journal of kidney health and disease · 2023Review
- Growth-Promoting Effects of Zhenqi Granules on Finishing Pigs.Animals : an open access journal from MDPI · 2022Article
- Genomic scans for selective sweeps through haplotype homozygosity and allelic fixation in 14 indigenous sheep breeds from Middle East and South Asia.Scientific reports · 2021Article
- Genomics of Human Fibrotic Diseases: Disordered Wound Healing Response.International journal of molecular sciences · 2020Review
- Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.International urogynecology journal · 2020Article
- Clinical and genetic associations of renal function and diabetic kidney disease in the United Arab Emirates: a cross-sectional study.BMJ open · 2018Article
- Role of Alström syndrome 1 in the regulation of blood pressure and renal function.JCI insight · 2018Article
- Heritability and genome-wide associations studies of cerebral blood flow in the general population.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2018Article
- Characterization of Coding/Noncoding Variants forJournal of the American Society of Nephrology : JASN · 2018Article
- TheJournal of the American Society of Nephrology : JASN · 2018Review
Corrections and comments
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Authors and funding
34 authors at 11 institutions in 6 countries.
Funding
Abstract
backgroundSerum creatinine (S CR) is the most important biomarker for a quick and non-invasive assessment of kidney function in population-based surveys. A substantial proportion of the inter-individual variability in S CR level is explicable by genetic factors.
methodsWe performed a meta-analysis of genome-wide association studies of S CR undertaken in five population isolates ('discovery cohorts'), all of which are part of the European Special Population Network (EUROSPAN) project. Genes showing the strongest evidence for an association with SCR (candidate loci) were replicated in two additional population-based samples ('replication cohorts').
resultsAfter the discovery meta-analysis, 29 loci were selected for replication. Association between SCR level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12, were successfully replicated in the replication cohorts (p value = 1.0 x 10(-6) and 1.7 x 10(-4), respectively). Evidence of association was also found for polymorphisms in a locus including the gamma-aminobutyric acid receptor rho-2 (GABRR2) gene and the ubiquitin-conjugating enzyme E2-J1 (UBE2J1) gene (replication p value = 3.6 x 10(-3)). Previously reported findings, associating glomerular filtration rate with SNPs in the uromodulin (UMOD) gene and in the schroom family member 3 (SCHROOM3) gene were also replicated.
conclusionsWhile confirming earlier results, our study provides new insights in the understanding of the genetic basis of serum creatinine regulatory processes. In particular, the association with the genes SYT1 and GABRR2 corroborate previous findings that highlighted a possible role of the neurotransmitters GABAA receptors in the regulation of the glomerular basement membrane and a possible interaction between GABAA receptors and synaptotagmin-I at the podocyte level.
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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.