The etiology of Meniere's disease (MD) remains obscure. Previous studies 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 viral 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 sporadic HLA associations point to chromosome 6 being a candidate region of a possible MD mutation, this area of the human genome has been investigated first; DNA suitable for study by other markers has been stored. The presence or absence of VP1 in the familial MD patients has been measured and related to disease activity at the time of sample collection. The association, in both sporadic and familial cases, of MD and partial 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 significant relation between disease activity and circulating VP1 has been confirmed. It is likely that the predisposition to familial MD is attributable to a mutation on chromosome 6, which has been designated M1.
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