10 research outputs found

    Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

    Get PDF
    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.Peer reviewe

    The Role of back injury or trauma in lumbar disc degeneration : an exposure-discordant twin study

    No full text
    Study Design. Exposure discordant twin study. Objective. To investigate the effect of injury on lumbar disc degeneration in monozygotic twins with discordant exposures to recalled previous injury/trauma to the lumbar spine. Summary of Backgrounf Data. Disc degeneration is considered a primary source of low back pain. Despite this, important determinants of disc degeneration other than genotype have not been identified. One possible important determinant of disc degeneration that has undergone limited investigation is previous back injury. Methods. We compared disc degeneration between 37 male monozygotic twin pairs with discordant exposures to recalled previous injury/trauma to the lumbar spine. Data on injury history were obtained through an extensive structured interview. Disc degeneration was assessed using quantitative measures of disc height and disc signal intensity. Results. Disc degeneration did not differ between twins who reported previous back injury and their uninjured cotwins. This finding was consistent for both disc height and disc signal intensity regardless of whether mean scores or greatest difference at any one lumbar level was used in the analysis. Disc height averaged 0.3 mm higher in the injured twin (P = 0.302), and was on average 0.05% higher at the level of the greatest cotwin difference (P = 0.302). There was no evidence that greater period since injury resulted in greater twin differences in disc degeneration. Conclusion. The current study suggests that back injury based on patient report is not an important predictor of future disc degeneration.5 page(s
    corecore