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

2.50
Hdl Handle:
http://hdl.handle.net/2336/33393
Title:
A large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p.
Authors:
Ingvarsson, T; Stefánsson, SE; Gulcher, JR; Jónsson, HH; Jónsson, H; Frigge, ML; Pálsdóttir, E; Olafsdóttir, G; Jónsdóttir, T; Walters, GB; Lohmander, LS; Stefánsson, K
Citation:
Arthritis Rheum. 2001, 44(11):2548-55
Issue Date:
1-Nov-2001
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 x 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.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1002/1529-0131(200111)44:11<2548::AID-ART435>3.0.CO;2-S

Full metadata record

DC FieldValue Language
dc.contributor.authorIngvarsson, T-
dc.contributor.authorStefánsson, SE-
dc.contributor.authorGulcher, JR-
dc.contributor.authorJónsson, HH-
dc.contributor.authorJónsson, H-
dc.contributor.authorFrigge, ML-
dc.contributor.authorPálsdóttir, E-
dc.contributor.authorOlafsdóttir, G-
dc.contributor.authorJónsdóttir, T-
dc.contributor.authorWalters, GB-
dc.contributor.authorLohmander, LS-
dc.contributor.authorStefánsson, K-
dc.date.accessioned2008-07-28T11:17:33Z-
dc.date.available2008-07-28T11:17:33Z-
dc.date.issued2001-11-01-
dc.date.submitted2008-07-28-
dc.identifier.citationArthritis Rheum. 2001, 44(11):2548-55en
dc.identifier.issn0004-3591-
dc.identifier.pmid11710711-
dc.identifier.doi10.1002/1529-0131(200111)44:11<2548::AID-ART435>3.0.CO;2-S-
dc.identifier.urihttp://hdl.handle.net/2336/33393-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractOBJECTIVE: 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 x 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.en
dc.language.isoenen
dc.publisherWiley-Liss, Inc.en
dc.relation.urlhttp://dx.doi.org/10.1002/1529-0131(200111)44:11<2548::AID-ART435>3.0.CO;2-Sen
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshArthroplasty, Replacement, Hipen
dc.subject.meshChromosomes, Human, Pair 16en
dc.subject.meshFemaleen
dc.subject.meshFemur Headen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshLod Scoreen
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshOsteoarthritis, Hipen
dc.subject.meshOsteoarthritis, Kneeen
dc.subject.meshPedigreeen
dc.subject.meshPhenotypeen
dc.titleA large Icelandic family with early osteoarthritis of the hip associated with a susceptibility locus on chromosome 16p.en
dc.typeArticleen
dc.contributor.departmentUniversity Hospital, Akureyri, Iceland. thi@fsa.isen
dc.identifier.journalArthritis and rheumatismen

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