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Golla, A. ; Jansson, A.* ; Ramser, J.* ; Hellebrand, H.* ; Zahn, R.* ; Meitinger, T. ; Belohradsky, B.H.* ; Meindl, A.*

Chronic recurrent multifocal osteomyelitis (CRMO) : Evidence for a susceptibility gene located on chromosome 18q21.3-18q22.

Eur. J. Hum. Genet. 10, 217-221 (2002)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter CRMO chronic recurrent multifocal osteomyelitis family based association study D18S60 genetic basis
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Zeitschrift European Journal of Human Genetics
Quellenangaben Band: 10, Heft: 3, Seiten: 217-221 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)