Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

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Show simple item record Näkki, Annu Kouhia, Sanna T. Saarela, Janna Harilainen, Arsi Tallroth, Kaj Videman, Tapio Battié, Michele C. Kaprio, Jaakko Peltonen, Leena Kujala, Urho M. 2011-05-13T08:00:07Z 2011-05-13T08:00:07Z 2010
dc.identifier.citation Näkki, A., Kouhia, S., Saarela, J., Harilainen, A., Tallroth, K., Videman, T., Battie, M., kaprio, J., Peltonen, L. & Kujala, U. (2010). Allelic variants of il1r1 gene associate with severe hand osteoarthritis. BMC Medical Genetics, 11:50. Retrieved from
dc.identifier.issn 1471-2350
dc.description.abstract Background. In search for genes predisposing to osteoarthritis (OA), several genome wide scans have provided evidence for linkage on 2q. In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families. Methods. We genotyped 32 single nucleotide polymorphisms (SNPs) in this 470 kb region comprising six genes belonging to the interleukin 1 superfamily and monitored for association with individual SNPs and SNP haplotypes among severe familial hand OA cases (material extended from our previous linkage study; n = 134), unrelated end-stage bilateral primary knee OA cases (n = 113), and population based controls (n = 436). Results. Four SNPs in the IL1R1 gene, mapping to a 125 kb LD block, provided evidence for association with hand OA in family-based and case-control analysis, the strongest association being with SNP rs2287047 (p-value = 0.0009). Conclusions. This study demonstrates an association between severe hand OA and IL1R1 gene. This gene represents a highly relevant biological candidate since it encodes protein that is a known modulator of inflammatory processes associated with joint destruction and resides within a locus providing consistent evidence for linkage to hand OA. As the observed association did not fully explain the linkage obtained in the previous study, it is plausible that also other variants in this genome region predispose to hand OA. en
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartofseries BMC Medical Genetics
dc.rights openAccess fi
dc.rights © 2010 Näkki et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.subject.other nivelrikko en
dc.subject.other geenit en
dc.subject.other osteoarthritis en
dc.subject.other genes en
dc.title Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
dc.type Article
dc.identifier.urn URN:NBN:fi:jyu-2011051310801
dc.subject.kota 314
dc.contributor.laitos Terveystieteiden laitos fi
dc.contributor.laitos Department of Health Sciences en
dc.identifier.doi doi:10.1186/1471-2350-11-50
dc.description.version Publisher's PDF
dc.type.coar journal article
dc.description.reviewstatus peerReviewed
dc.relation.issn 1471-2350
dc.type.version publishedVersion
dc.rights.accesslevel openAccess

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