Journal
JOURNAL OF HUMAN GENETICS
Volume 55, Issue 12, Pages 834-837Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.122
Keywords
association; chromosome 12; linkage; Meniere's disease
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Meniere's disease (MD) is a disorder of the inner ear characterized by episodes of vertigo, tinnitus and fluctuating sensorineural hearing loss. Most MD cases are sporadic, but 5-15% of patients are familial following an autosomal dominant mode of inheritance with incomplete penetrance. We have previously identified a candidate gene region for MD on chromosome 12p12.3 using linkage analysis. We genotyped 15 Swedish families segregating familial MD (FMD) to further clarify the role of chromosome 12p in a larger cohort of families. Highly polymorphic marker loci were analyzed over the 16-Mb candidate region in affected and healthy family members as well as in control subjects. The results revealed allelic association between FMD and several individual polymorphic marker alleles and single-nucleotide polymorphisms. Moreover, a common three-marker haplotype spanning 1.48Mb co-segregates with FMD in 60% of the families investigated, forming the core of a possible ancestral haplotype associated with FMD in Sweden. Journal of Human Genetics (2010) 55, 834-837; doi:10.1038/jhg.2010.122; published online 7 October 2010
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