HLA class II genotypes in Leber's hereditary optic neuropathy.
There is an association between Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis-like illness, raising the possibility of autoimmune pathogenetic mechanisms in LHON. We therefore investigated the frequency of HLA-DR genotypes in members of 79 families with LHON, defined by the presence of a pathogenic mitochondrial DNA mutation. There was no association between LHON and any HLA-DR genotype. Furthermore, affected relative pairs did not share HLA genotypes more than discordant pairs. We conclude that the HLA-DR locus is not a major genetic determinant for the development of blindness in LHON.
Govan
G G
GG
University Department of Clinical Neurology, Institute of Neurology, London, UK.
Smith
P R
PR
Kellar-Wood
H
H
Schapira
A H
AH
Harding
A E
AE
D000483:Alleles; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D005838:Genotype; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000150:complications; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000150:complications / Q000235:genetics* / Q000276:immunology*
D004272:DNA, Mitochondrial; D000949:Histocompatibility Antigens Class II