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(2021)
Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci.
Hum Mol Genet, 30 (5).
pp. 393-409.
ISSN 1460-2083
https://doi.org/10.1093/hmg/ddab023
SGUL Authors: Whincup, Peter Hynes
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Abstract
Interleukin-6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery, and replication meta genome-wide association study (GWAS) of circulating serum IL-6 levels comprising up to 67 428 (ndiscovery = 52 654 and nreplication = 14 774) individuals of European ancestry. The inverse variance fixed-effects based discovery meta-analysis, followed by replication led to the identification of two independent loci, IL1F10/IL1RN rs6734238 on Chromosome (Chr) 2q14, (pcombined = 1.8 × 10-11), HLA-DRB1/DRB5 rs660895 on Chr6p21 (pcombined = 1.5 × 10-10) in the combined meta-analyses of all samples. We also replicated the IL6R rs4537545 locus on Chr1q21 (pcombined = 1.2 × 10-122). Our study identifies novel loci for circulating IL-6 levels uncovering new immunological and inflammatory pathways that may influence IL-6 pathobiology.
| Item Type: | Article | |||||||||||||||
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| Additional Information: | © The Author(s) 2021. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. | |||||||||||||||
| Keywords: | CHARGE Inflammation Working Group, Genetics & Heredity, 06 Biological Sciences, 11 Medical and Health Sciences | |||||||||||||||
| SGUL Research Institute / Research Centre: | Academic Structure > Population Health Research Institute (INPH) | |||||||||||||||
| Journal or Publication Title: | Hum Mol Genet | |||||||||||||||
| ISSN: | 1460-2083 | |||||||||||||||
| Language: | eng | |||||||||||||||
| Dates: |
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| Publisher License: | Creative Commons: Attribution 4.0 | |||||||||||||||
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| PubMed ID: | 33517400 | |||||||||||||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/112959 | |||||||||||||||
| Publisher's version: | https://doi.org/10.1093/hmg/ddab023 |
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