Allelic variants of IL1R1 gene associate with severe hand osteoarthritis
Name
Peltonen-2010-Allelic variants of IL1R1 gene associate.pdf
Size
1.19 MB
Format
Adobe PDF
Checksum (MD5)
f512bdb98fd927abe87c9d55bbec2de8
Author(s)
Näkki, Annu
Kouhia, Sanna T.
Saarela, Janna
Harilainen, Arsi
Tallroth, Kaj
Videman, Tapio
Battié, Michele C.
Kaprio, Jaakko
Kujala, Urho M.
Peltonen, Leena
Date Issued
March 2010
Journal
BMC Medical Genetics
Publisher
Springer (Biomed Central Ltd.)
Citation
Näkki, Annu et al. “Allelic Variants of IL1R1 Gene Associate with Severe Hand Osteoarthritis.” BMC Medical Genetics 11.1 (2010): 50. Web. 2 Mar. 2012.
Version
Final published version
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.
MIT Department
Broad Institute of MIT and Harvard
Terms of Use
Creative Commons Attribution
Persistent DSpace Link
DOI of Published Version
https://doi.org/10.1186/1471-2350-11-50
