ArticlePLoS genetics2012
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 5 of them syntheses that pooled it.
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Who cites it
82 citing papers in PubMed, 5 syntheses or guidelines pooled it, 157 citations in OpenAlex.
- Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis.BMC medical genetics · 2020Pooled it
- Genome-wide study of immune biomarkers in cerebrospinal fluid and serum from patients with bipolar disorder and controls.Translational psychiatry · 2020Pooled it
- Common variants on 6q16.2, 12q24.31 and 16p13.3 are associated with major depressive disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2018Pooled it
- Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.PLoS genetics · 2016Pooled it
- A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.PLoS genetics · 2013Pooled it
- VPS13D Gene Variant Is Associated with Altered IL-6 Production and Mortality in Septic Shock.Journal of innate immunity · 2015Trial
- Blood Group Type and COVID-19 Severity at Tertiary Care Centre, Nepal: An Observational Study.JNMA; journal of the Nepal Medical Association · 2025Observational
- Decoding MODY: exploring genetic roots and clinical pathways.Diabetology international · 2025Review
- Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.International journal of molecular sciences · 2025Article
- Is ABO blood type a risk factor for adjacent segment degeneration after lumbar spine fusion?European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2025Article
- Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations.Epigenetics · 2024Article
- Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.Human molecular genetics · 2024Article
- Bioinformatics gene analysis for potential biomarkers and therapeutic targets of Parkinson's disease based on neutrophil extracellular traps.Frontiers in aging neuroscience · 2024Article
- A multivariate genome-wide association study of psycho-cardiometabolic multimorbidity.PLoS genetics · 2023Article
- Population-specific positive selection on low CR1 expression in malaria-endemic regions.PloS one · 2023Article
- COVID-19 host genetics and ABO blood group susceptibility.Cambridge prisms. Precision medicine · 2023Review
- No association between genetically predicted C-reactive protein levels and colorectal cancer survival in Korean: two-sample Mendelian randomization analysis.Epidemiology and health · 2023Article
- Blood types (ABO/Rhesus) and SARS-CoV-2 infection: a retrospective, cross-sectional study in 2828 healthcare workers.Future virology · 2022Article
- Impact of donor blood type on outcomes after prolonged allograft ischemic times.The Journal of thoracic and cardiovascular surgery · 2022Article
- Polymorphisms and Gene-Gene Interaction in AGER/IL6 Pathway Might Be Associated with Diabetic Ischemic Heart Disease.Journal of personalized medicine · 2022Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
34 authors at 7 institutions in 2 countries.
Funding
Abstract
Identifying the genes that influence levels of pro-inflammatory molecules can help to elucidate the mechanisms underlying this process. We first conducted a two-stage genome-wide association scan (GWAS) for the key inflammatory biomarkers Interleukin-6 (IL-6), the general measure of inflammation erythrocyte sedimentation rate (ESR), monocyte chemotactic protein-1 (MCP-1), and high-sensitivity C-reactive protein (hsCRP) in a large cohort of individuals from the founder population of Sardinia. By analysing 731,213 autosomal or X chromosome SNPs and an additional ∼1.9 million imputed variants in 4,694 individuals, we identified several SNPs associated with the selected quantitative trait loci (QTLs) and replicated all the top signals in an independent sample of 1,392 individuals from the same population. Next, to increase power to detect and resolve associations, we further genotyped the whole cohort (6,145 individuals) for 293,875 variants included on the ImmunoChip and MetaboChip custom arrays. Overall, our combined approach led to the identification of 9 genome-wide significant novel independent signals-5 of which were identified only with the custom arrays-and provided confirmatory evidence for an additional 7. Novel signals include: for IL-6, in the ABO gene (rs657152, p = 2.13×10(-29)); for ESR, at the HBB (rs4910472, p = 2.31×10(-11)) and UCN119B/SPPL3 (rs11829037, p = 8.91×10(-10)) loci; for MCP-1, near its receptor CCR2 (rs17141006, p = 7.53×10(-13)) and in CADM3 (rs3026968, p = 7.63×10(-13)); for hsCRP, within the CRP gene (rs3093077, p = 5.73×10(-21)), near DARC (rs3845624, p = 1.43×10(-10)), UNC119B/SPPL3 (rs11829037, p = 1.50×10(-14)), and ICOSLG/AIRE (rs113459440, p = 1.54×10(-08)) loci. Confirmatory evidence was found for IL-6 in the IL-6R gene (rs4129267); for ESR at CR1 (rs12567990) and TMEM57 (rs10903129); for MCP-1 at DARC (rs12075); and for hsCRP at CRP (rs1205), HNF1A (rs225918), and APOC-I (rs4420638). Our results improve the current knowledge of genetic variants underlying inflammation and provide novel clues for the understanding of the molecular mechanisms regulating this complex process.
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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.