The etiology of Meniere's disease (MD) remains obscure. Previous studi
es have shown a highly significant association between sporadic MD and
one of the human leukocyte antigen, HLA-C genotypes, whereas disease
activity has been related to the detection of enterovirus-specific vir
al protein (VP1) in the peripheral circulation. This present research
extends the HLA association of sporadic cases to the study of families
with more than one living member with unequivocal MD. Since the spora
dic HLA associations point to chromosome 6 being a candidate region of
a possible MD mutation, this area of the human genome has been invest
igated first; DNA suitable for study by other markers has been stored.
The presence or absence of VP1 in the familial MD patients has been m
easured and related to disease activity at the time of sample collecti
on. The association, in both sporadic and familial cases, of MD and pa
rtial HLA class I haplotypes points to a likely MD locus lying between
the HLA-C and HLA-A loci on the short arm of chromosome 6. The signif
icant relation between disease activity and circulating VP1 has been c
onfirmed. It is likely that the predisposition to familial MD is attri
butable to a mutation on chromosome 6, which has been designated M1.