ArticleBehavior genetics2014
The contribution of the functional IL6R polymorphism rs2228145, eQTLs and other genome-wide SNPs to the heritability of plasma sIL-6R levels.
Article in Behavior genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Cumulative Evidence for Associations Between Genetic Variants in Interleukin 6 Receptor Gene and Human Diseases and Phenotypes.Frontiers in immunology · 2022Pooled it
- Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients'.Cytokine · 2021Trial
- Tocilizumab is safe and tolerable and reduces C-reactive protein concentrations in the plasma and cerebrospinal fluid of ALS patients.Muscle & nerve · 2021Trial
- Article
- Enhanced Interleukin 6 Trans-Signaling Modulates Disease Process in Amyotrophic Lateral Sclerosis Mouse Models.Brain sciences · 2025Article
- Advances in non-type 2 severe asthma: from molecular insights to novel treatment strategies.The European respiratory journal · 2024Review
- Blunted diurnal interleukin-6 rhythm is associated with amygdala emotional hyporeactivity and depression: a modulating role of gene-stressor interactions.Frontiers in psychiatry · 2023Article
- Dissecting the IL-6 pathway in cardiometabolic disease: A Mendelian randomization study on both IL6 and IL6R.British journal of clinical pharmacology · 2022Article
- Polymorphisms and Gene-Gene Interaction in AGER/IL6 Pathway Might Be Associated with Diabetic Ischemic Heart Disease.Journal of personalized medicine · 2022Article
- Donor genetic variants in interleukin-6 and interleukin-6 receptor associate with biopsy-proven rejection following kidney transplantation.Scientific reports · 2021Article
- Depression and interleukin-6 signaling: A Mendelian Randomization study.Brain, behavior, and immunity · 2021Article
- Genetic Associations Between IL-6 and the Development of Autoimmune Arthritis Are Gender-Specific.Frontiers in immunology · 2021Article
- Methylation Pattern of the SOCS3 and IL6R Promoters in Rheumatoid Arthritis.International journal of inflammation · 2020Article
- IL6 receptorNeurology(R) neuroimmunology & neuroinflammation · 2019Article
- Genetics of Thoracic and Abdominal Aortic Diseases.Circulation research · 2019Review
- Effects of interleukin-6 receptor blockade on allergen-induced airway responses in mild asthmatics.Clinical & translational immunology · 2019Article
- Article
- IL-6: a cytokine at the crossroads of autoimmunity.Current opinion in immunology · 2018Review
- Lessons from ten years of genome-wide association studies of asthma.Clinical & translational immunology · 2017Review
- Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
The non-synonymous SNP rs2228145 in the IL6R gene on chromosome 1q21.3 is associated with a wide range of common diseases, including asthma, rheumatoid arthritis, type 1 diabetes and coronary heart disease. We examined the contribution of this functional IL6R gene polymorphism rs2228145 versus other genome-wide SNPs to the variance of sIL-6R levels in blood plasma in a large population-based sample (N ~5,000), and conducted an expression QTL analysis to identify SNPs associated with IL6R gene expression. Based on data from 2,360 twin families, the broad heritability of sIL-6R was estimated at 72 and 51% of the total variance was explained by the functional SNP rs2228145. Converging findings from GWAS, linkage, and GCTA analyses indicate that additional variance of sIL-6R levels can be explained by other variants in the IL6R region, including variants at the 3'-end of IL6R tagged by rs60760897 that are associated with IL6R RNA expression.
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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.