Colleen-Ann Campbell - Ménière’s Disease

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Ménière’s disease (MD) is a complex disorder of unknown etiology characterized by vertigo, sensorineural hearing loss and tinnitus. Its reported incidence in Caucasians is 1-2 per 10,000 (Morrison 1995), but most cases of MD are sporadic and only occasional families are identified with multiple affected persons (Oliveira 1992). The dearth of such families and the reduced penetrance of MD make classic linkage analysis difficult. 

We are using multiple approaches to try to identify a genetic component to MD. These approaches include an association study comparing candidate genes in singleton individuals with MD to matched controls.  We are also collecting DNA from families which segregate MD. 

 We recently identified a Chilean family segregating autosomal dominant MD over three generations and completed a genome-wide linkage scan using the Affymetrix GeneChip® Mapping 50K array. Five family members had definite MD, one individual had possible MD, 5 individuals were unaffected, and 4 individuals were too young to classify. Multi-point parametric linkage analysis assuming dominant inheritance and using DNA-Chip Analyzer software (dChip) (www.dchip.org) identified probable linkage to chromosome 1q32.1-q32.3 with a maximum LOD score of 2.36. The candidate gene interval determined by haplotype reconstruction spans 8.3 Mb (201.71- 210.29cM) and includes 79 known genes. No deafness locus maps to this region. The next linkage peak greater than 1 in this family was a LOD score of 1.66 at 17p12. This region spans 382 kb (12.65 - 13.03cM) and includes 6 genes. 

Our study is significant because it identifies a locus for MD on 1q32. Since the phenotypes associated with sporadic and familial MD are indistinguishable, the identification of the causative gene in this family may have relevance to the definitive diagnosis of MD in sporadic causes. Furthermore, since little is known about MD and its initiating factors, the identification of a genetic contribution to this disease may help to clarify disease pathogenesis and possibly lead to better therapies.

If you are interested in participating in this Ménière’s disease study please contact me by e-mail or by telephone at 319-335-7997 or contact Dr. Richard Smith at:

RICHARD JH SMITH-Director 
200 Hawkins Drive - 21151 PFP 
The University of Iowa 
Iowa City, IA 52242 
Phone: (319)356-3612 
Fax: (319)356-4108