Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

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Näkki , A , Kouhia , S T , Saarela , J , Harilainen , A , Tallroth , K , Videman , T , Battie , M C , Kaprio , J , Peltonen , L & Kujala , U M 2010 , ' Allelic variants of IL1R1 gene associate with severe hand osteoarthritis ' , BMC Medical Genetics , vol. 11 . https://doi.org/10.1186/1471-2350-11-50

Title: Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
Author: Näkki, Annu; Kouhia, Sanna T.; Saarela, Janna; Harilainen, Arsi; Tallroth, Kaj; Videman, Tapio; Battie, Michele C.; Kaprio, Jaakko; Peltonen, Leena; Kujala, Urho M.
Contributor organization: Institute for Molecular Medicine Finland
Hjelt Institute (-2014)
Genetic Epidemiology
Date: 2010
Language: eng
Number of pages: 10
Belongs to series: BMC Medical Genetics
ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-11-50
URI: http://hdl.handle.net/10138/164108
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.
Subject: NF-KAPPA-B
INTERLEUKIN-1 RECEPTOR ANTAGONIST
KNEE OSTEOARTHRITIS
LINKAGE DISEQUILIBRIUM
HAPLOTYPE RECONSTRUCTION
RADIOGRAPHIC SIGNS
DISC DEGENERATION
CHROMOSOME 2Q
POLYMORPHISMS
CLUSTER
314 Health sciences
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


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