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A large icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p

Ingvarsson, Thorvaldur LU ; Stefánsson, Stefán Einar; Gulcher, Jeffrey R.; Jónsson, Hjörtur Heiar; Jónsson, Helgi; Frigge, Michael L.; Pálsdóttir, Ebba; Olafsdottir, Gubjorg; Jonsdottir, Orbjorg and Walters, Gumundur Bragi, et al. (2001) In Arthritis and Rheumatism 44(11). p.2548-2555
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... (More)

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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type
Contribution to journal
publication status
published
in
Arthritis and Rheumatism
volume
44
issue
11
pages
8 pages
publisher
John Wiley & Sons
external identifiers
  • Scopus:0035156371
ISSN
0004-3591
DOI
10.1002/1529-0131(200111)44:11<2548::AID-ART435>3.0.CO;2-S
language
English
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no
id
cdda3a29-abcf-42db-aa4c-5a62cf8c6f8b
date added to LUP
2016-05-05 11:30:04
date last changed
2017-01-01 08:25:17
@article{cdda3a29-abcf-42db-aa4c-5a62cf8c6f8b,
  abstract     = {<p>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<sup>-4</sup>). Two additional regions with LOD scores of &gt;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.</p>},
  author       = {Ingvarsson, Thorvaldur and Stefánsson, Stefán Einar and Gulcher, Jeffrey R. and Jónsson, Hjörtur Heiar and Jónsson, Helgi and Frigge, Michael L. and Pálsdóttir, Ebba and Olafsdottir, Gubjorg and Jonsdottir, Orbjorg and Walters, Gumundur Bragi and Lohmander, L. Stefan and Stefánsson, Kári},
  issn         = {0004-3591},
  language     = {eng},
  number       = {11},
  pages        = {2548--2555},
  publisher    = {John Wiley & Sons},
  series       = {Arthritis and Rheumatism},
  title        = {A large icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p},
  url          = {http://dx.doi.org/10.1002/1529-0131(200111)44:11<2548::AID-ART435>3.0.CO;2-S},
  volume       = {44},
  year         = {2001},
}