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Sökning: WFRF:(Stefansson Kari) > (2000-2004)

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1.
  • Ingvarsson, Thorvaldur, et al. (författare)
  • A large icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p
  • 2001
  • Ingår i: Arthritis and Rheumatism. - John Wiley & Sons. - 0004-3591. ; 44:11, s. 2548-2555
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective. To describe a large kinship with inherited hip osteoarthritis (OA) and its associated susceptibility locus. Methods. Four generations of a kinship with familial hip OA were identified and characterized by family history and by clinical, radiographic, and histopathologic examination. In the genome-wide search for a susceptibility locus, OA cases were defined as those who had undergone total hip replacement associated with a clinical and radiographic diagnosis of hip OA. A genome-wide scan was performed using a framework set of microsatellite markers with an average spacing of 10 cM. Results. The hip OA of this family was indistinguishable from that of idiopathic, nonfamilial hip OA. There was no apparent evidence of spondyloepiphyseal dysplasia or other dysplasias usually associated with mutations in collagen genes. The genome-wide scan revealed a locus on chromosome 16p between 28 cM and 47 cM from the telomere, and this locus met the criteria for suggestive linkage (multipoint allele-sharing logarithm of odds [LOD] score 2.58, P = 1.6 × 10-4). Two additional regions with LOD scores of >1.5 were obtained. Conclusion. We have identified and described the largest kinship with familial hip OA reported to date. Evidence for linkage in this family suggests that a gene for susceptibility to hip OA exists on chromosome 16p. This represents an independent identification of a susceptibility locus previously reported for hip OA in this geographic region.
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2.
  • Ingvarsson, Thorvaldur, et al. (författare)
  • The inheritance of hip osteoarthritis in Iceland
  • 2000
  • Ingår i: Arthritis and Rheumatism. - John Wiley & Sons. - 0004-3591. ; 43:12, s. 2785-2792
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective. To assess, in a population-wide study in Iceland, the genetic contribution to hip osteoarthritis (OA) leading to total hip replacement (THR). Methods. Information from 2 population-based databases in Iceland was combined: a national registry of all THRs performed between 1972 and 1996, and a genealogy database of all available Icelandic genealogy records for the last 11 centuries. A genetic contribution to THR for OA was assessed by 1) identifying familial clusters of OA patients with THR, 2) applying the minimum founder test (MFT) to estimate the minimum number of ancestors ('founders') that would account for the genealogy of all 2,713 patients with THR for OA, compared with the average number of founders for control lists, 3) calculating an average pairwise kinship coefficient (KC) for the patient list and control lists, and 4) estimating the relative risk (RR) for THR among relatives of OA patients who have undergone the procedure. One thousand matched control lists, each the same size as the patient list, were created using the genealogy database. Results. A large number of familial clusters of patients with THR for OA were identified. The MFT showed that OA patients descended from fewer founders than did subjects in the control groups (P <0.001). The average pairwise KC among patients with OA was greater than in the control population (P <0.001). The RR for THR among siblings of OA patients was 3.05 (95% confidence interval 2.52-3.10). Conclusion. This population-based study shows that icelandic patients with hip replacement for OA are significantly more related to each other than are matched controls drawn from the Icelandic population. These findings support a significant genetic contribution to a common form of OA and encourage the search for genes conferring an increased susceptibility to OA.
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