2.50
Hdl Handle:
http://hdl.handle.net/2336/4434
Title:
Genomewide scan for hand osteoarthritis: a novel mutation in matrilin-3
Authors:
Stefánsson, Stefán Einar; Jónsson, Helgi; Ingvarsson, Thorvaldur; Manolescu, Ileana; Jónsson, Hjörtur H; Olafsdóttir, Gudbjörg; Pálsdóttir, Ebba; Stefánsdóttir, Gerdur; Sveinbjörnsdóttir, Gudfinna; Frigge, Michael L; Kong, Augustine; Gulcher, Jeffrey R; Stefánsson, Kári
Citation:
Am. J. Hum. Genet. 2003, 72(6):1448-59
Issue Date:
1-Jun-2003
Abstract:
Osteoarthritis (OA) is the most common human joint disease, characterized by loss and/or remodeling of joint synovium, cartilage, and bone. Here, we describe a genomewide linkage analysis of patients with idiopathic hand OA who were carefully phenotyped for involvement of either or both the distal interphalangeal (DIP) joints and the first carpometacarpal (CMC1) joints. The best linkage peaks were on chromosomes 4q and 3p and on the short arm of chromosome 2. Genomewide significance was reached for a locus on chromosome 2 for patients with affected CMC1 joints (LOD = 4.97); this locus was also significant for patients with OA in both CMC1 and DIP joints (LOD = 4.44). The peak LOD score at this locus coincides with a gene, MATN3, encoding the noncollagenous cartilage extracellular matrix protein, matrilin-3. Subsequent screening of the genomic sequence revealed a missense mutation, of a conserved amino acid codon, changing threonine to methionine in the epidermal growth factor-like domain in matrilin-3. The missense mutation cosegregates with hand OA in several families. The mutation frequency is slightly more than 2% in patients with hand OA in the Icelandic population and has a relative risk of 2.1.
Additional Links:
http://www.journals.uchicago.edu/AJHG/journal/issues/v72n6/024660/brief/024660.abstract.html

Full metadata record

DC FieldValue Language
dc.contributor.authorStefánsson, Stefán Einar-
dc.contributor.authorJónsson, Helgi-
dc.contributor.authorIngvarsson, Thorvaldur-
dc.contributor.authorManolescu, Ileana-
dc.contributor.authorJónsson, Hjörtur H-
dc.contributor.authorOlafsdóttir, Gudbjörg-
dc.contributor.authorPálsdóttir, Ebba-
dc.contributor.authorStefánsdóttir, Gerdur-
dc.contributor.authorSveinbjörnsdóttir, Gudfinna-
dc.contributor.authorFrigge, Michael L-
dc.contributor.authorKong, Augustine-
dc.contributor.authorGulcher, Jeffrey R-
dc.contributor.authorStefánsson, Kári-
dc.date.accessioned2006-09-18T11:54:15Z-
dc.date.available2006-09-18T11:54:15Z-
dc.date.issued2003-06-01-
dc.identifier.citationAm. J. Hum. Genet. 2003, 72(6):1448-59en
dc.identifier.issn0002-9297-
dc.identifier.pmid12736871-
dc.identifier.otherRHE12-
dc.identifier.urihttp://hdl.handle.net/2336/4434-
dc.description.abstractOsteoarthritis (OA) is the most common human joint disease, characterized by loss and/or remodeling of joint synovium, cartilage, and bone. Here, we describe a genomewide linkage analysis of patients with idiopathic hand OA who were carefully phenotyped for involvement of either or both the distal interphalangeal (DIP) joints and the first carpometacarpal (CMC1) joints. The best linkage peaks were on chromosomes 4q and 3p and on the short arm of chromosome 2. Genomewide significance was reached for a locus on chromosome 2 for patients with affected CMC1 joints (LOD = 4.97); this locus was also significant for patients with OA in both CMC1 and DIP joints (LOD = 4.44). The peak LOD score at this locus coincides with a gene, MATN3, encoding the noncollagenous cartilage extracellular matrix protein, matrilin-3. Subsequent screening of the genomic sequence revealed a missense mutation, of a conserved amino acid codon, changing threonine to methionine in the epidermal growth factor-like domain in matrilin-3. The missense mutation cosegregates with hand OA in several families. The mutation frequency is slightly more than 2% in patients with hand OA in the Icelandic population and has a relative risk of 2.1.en
dc.language.isoenen
dc.publisherUniversity of Chicago Pressen
dc.relation.urlhttp://www.journals.uchicago.edu/AJHG/journal/issues/v72n6/024660/brief/024660.abstract.htmlen
dc.subject.meshAmino Acid Sequenceen
dc.subject.meshChromosomes, Human, Pair 2en
dc.subject.meshChromosomes, Human, Pair 3en
dc.subject.meshChromosomes, Human, Pair 4en
dc.subject.meshCohort Studiesen
dc.subject.meshExtracellular Matrix Proteinsen
dc.subject.meshFinger Jointen
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Markersen
dc.subject.meshGenetic Screeningen
dc.subject.meshGenome, Humanen
dc.subject.meshHanden
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshLinkage (Genetics)en
dc.subject.meshMolecular Sequence Dataen
dc.subject.meshMutation, Missenseen
dc.subject.meshOsteoarthritisen
dc.subject.meshPedigreeen
dc.subject.meshPhenotypeen
dc.subject.meshPolymorphism, Geneticen
dc.subject.meshSequence Homology, Amino Aciden
dc.titleGenomewide scan for hand osteoarthritis: a novel mutation in matrilin-3en
dc.typeArticleen
dc.format.digYES-

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