Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2003-5-15
pubmed:databankReference
pubmed:abstractText
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.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10053028, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10196235, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10330129, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10364529, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10446874, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10486325, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10523529, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10577938, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10633862, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10656920, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10660556, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10802644, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10857807, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-10930403, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11039572, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11145037, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11479597, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11528506, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11710711, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11950247, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-11953971, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-12053178, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-12145742, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-12173034, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-12175111, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-12571848, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-3422543, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-5296195, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-6599401, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-7581446, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-8086596, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-8616305, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-8651312, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-8660106, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-9195526, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-9274595, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-9336408, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-9345087, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-9588729, http://linkedlifedata.com/resource/pubmed/commentcorrection/12736871-9806453
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
72
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1448-59
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
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