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Sökning: WFRF:(Tamm Ann) > (2010-2014)

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1.
  • Evangelou, Evangelos, et al. (författare)
  • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22
  • 2011
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 70:2, s. 349-355
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives Osteoarthritis (OA) is the most prevalent form of arthritis and accounts for substantial morbidity and disability, particularly in older people. It is characterised by changes in joint structure, including degeneration of the articular cartilage, and its aetiology is multifactorial with a strong postulated genetic component. Methods A meta-analysis was performed of four genome-wide association (GWA) studies of 2371 cases of knee OA and 35 909 controls in Caucasian populations. Replication of the top hits was attempted with data from 10 additional replication datasets. Results With a cumulative sample size of 6709 cases and 44 439 controls, one genome-wide significant locus was identified on chromosome 7q22 for knee OA (rs4730250, p = 9.2 x 10(-9)), thereby confirming its role as a susceptibility locus for OA. Conclusion The associated signal is located within a large (500 kb) linkage disequilibrium block that contains six genes: PRKAR2B (protein kinase, cAMP-dependent, regulatory, type II, beta), HPB1 (HMG-box transcription factor 1), COG5 (component of oligomeric golgi complex 5), GPR22 (G protein-coupled receptor 22), DUS4L (dihydrouridine synthase 4-like) and BCAP29 (B cell receptor-associated protein 29). Gene expression analyses of the (six) genes in primary cells derived from different joint tissues confirmed expression of all the genes in the joint environment.
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2.
  • von Rosen, Tatjana, et al. (författare)
  • Statistical Study of Factors Affecting Knee Joint Space and Osteophytes in the Population with Early Knee Osteoarthritis
  • 2013
  • Ingår i: Multivariate Statistics: Theory and Applications. - Singapore : World Scientific. - 9789814449397 ; , s. 141-156
  • Bokkapitel (refereegranskat)abstract
    • Two basic components of the radiographically measured knee osteoarthritis (KOA), joint space width (JSW) and size of osteophytes (OPH), were studied in order to characterize early stage of KOA and to reveal additional aspects of grading it. The study was conducted in 161 individuals (100 women and 61 men, 34{54 years old). A linear mixed and a generalized linear models were used to identify risk factors for JSW and OPH. Accounting for intra- and inter-knee correlations in these models is novel for knee studies. We obtained that at the early stage of KOA, JSW is more constitutionrelated, while the appearance of OPH more disease-related. The e®ect of gender on JSW was su±ciently large to establish di®erent de¯nitions of KOA for genders. In this case attention should be paid to the medial compartment as the narrower one. Our ¯ndings also suggested that the height of women could be taken into account when grading KOA, and that the imbalance between knee and thigh circumferences refers to the presence of OPH.
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