Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2011
Genetic aspects of familial Ménière's disease.
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Arweiler-Harbeck Diana, Horsthemke Bernhard, Jahnke Klaus, Hennies Hans Christian
Аннотация
OBJECTIVE: Ménière's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and reduced penetrance have been described. To elucidate the genetic basis of MD, patients and their families were investigated, and linkage analysis was performed.
STUDY DESIGN: Retrospective and prospective family survey.
PATIENTS AND METHODS: Of 193 patients diagnosed with MD, 37 patients could be ascertained as having a positive family history, which means a frequency of 19.2%. Nineteen families with 81 members (52 positive for MD and 29 negative for MD) were investigated according to the guidelines of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology. Blood samples were obtained, and a genome-wide linkage analysis was performed with microsatellite markers.
RESULTS: Age of onset diminished in subsequent generations. We found suggestive evidence of linkage assuming heterogeneity of MD on chromosome 5 with a maximum multipoint logarithm of the odds of linkage (LOD) score of 1.9 for 13 of 17 families and a potential region on chromosome 12 for 8 families. Of the 81 subjects, 27 (33.3%) reported MD only, 25 (30.9%) reported migraine and MD, and 7 (8.6%) reported migraine only.
CONCLUSION: Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.
STUDY DESIGN: Retrospective and prospective family survey.
PATIENTS AND METHODS: Of 193 patients diagnosed with MD, 37 patients could be ascertained as having a positive family history, which means a frequency of 19.2%. Nineteen families with 81 members (52 positive for MD and 29 negative for MD) were investigated according to the guidelines of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology. Blood samples were obtained, and a genome-wide linkage analysis was performed with microsatellite markers.
RESULTS: Age of onset diminished in subsequent generations. We found suggestive evidence of linkage assuming heterogeneity of MD on chromosome 5 with a maximum multipoint logarithm of the odds of linkage (LOD) score of 1.9 for 13 of 17 families and a potential region on chromosome 12 for 8 families. Of the 81 subjects, 27 (33.3%) reported MD only, 25 (30.9%) reported migraine and MD, and 7 (8.6%) reported migraine only.
CONCLUSION: Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.