Linked Life Data

11973628

Source:http://linkedlifedata.com/resource/pubmed/id/11973628

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2002-4-25
pubmed:abstractText
Chronic recurrent multifocal osteomyelitis (CRMO) is characterised by recurrent inflammatory lesions in the metaphyses of long bones and usually affects children and adolescents. Similarity with an autosomal recessive mouse disorder (cmo, chronic multifocal osteomyelitis) prompted us to perform a family based association study with two markers on chromosome 18q in the region homologous to the cmo localisation of the mouse. We found a significant association of CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. This suggests the existence of a gene in this region contributing in a significant manner to the aetiology of CRMO and concomitantly demonstrates evidence for a genetic basis of CRMO for the first time. This gene is different from RANK, which is mutated in familial expansile osteolysis (FEO), but not in CRMO. Mutation screening in RANK and the genes PIGN and KIAA1468 led to detection of two variants (one in RANK and one in PIGN), which are in linkage disequilibrium with the rare D18S60 allele, but not independently associated with CRMO.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
217-21
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22.
pubmed:affiliation
Abteilung Medizinische Genetik der Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, Universität München, München, Germany. astrid.golla@uni-bonn.de
pubmed:publicationType
Journal Article