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Possible Association of Juvenile Myoclonic Epilepsy with HLA‐DRw6
Author(s) -
Durner Martha,
Janz Dieter,
Zingsem Juergen,
Greenberg David A.
Publication year - 1992
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1992.tb02186.x
Subject(s) - juvenile myoclonic epilepsy , linkage disequilibrium , human leukocyte antigen , epilepsy , locus (genetics) , idiopathic generalized epilepsy , genetics , psychology , allele , antigen , biology , neuroscience , haplotype , gene
Summary: Juvenile myoclonic epilepsy (JME) is a clearly defined subform of idiopathic generalized epilepsy with a high aggregation of epilepsy in family members. With the HLA‐system used as a genetic marker, a linkage between JME and the HLA region was demonstrated. Linkage with the HLA region suggests that JME may be associated with an HLA‐antigen. An association could indicate that the gene lies in the HLA region and is in linkage disequilibrium with one of the HLA‐antigens. Eightyeight unrelated patients with JME were typed for the HLA‐A and HLA‐B locus, 77 were typed for the HLA‐C locus, and 76 were typed for the DR locus. The antigen frequency was compared with those of healthy blood donors. The highest difference was noted in the frequency of DRw6 (39.5% in patients vs. 22.1% in controls). This weak association is open to question because DRw6 is known to split into DRwl3 and DRw14.