Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association
2010 (English)In: Journal of Human Genetics, ISSN 1434-5161, E-ISSN 1435-232x, Vol. 55, no 12, 834-837 p.Article in journal (Refereed) Published
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 1.48 Mb co-segregates with FMD in 60% of the families investigated, forming the core of a possible ancestral haplotype associated with FMD in Sweden.
Place, publisher, year, edition, pages
2010. Vol. 55, no 12, 834-837 p.
association, chromosome 12, linkage, Meniere's disease
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-140263DOI: 10.1038/jhg.2010.122ISI: 000285545000010PubMedID: 20927121OAI: oai:DiVA.org:uu-140263DiVA: diva2:383334