Hearing impairment susceptibility in elderly men and the DFNA18 locus

Holly J. Garringer, Nathan D. Pankratz, William C. Nichols, Terry Reed

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Objective: To identify any chromosomal region that shows evidence for linkage to age-related hearing loss in humans. Design: Evaluation of genetic linkage using siblingpair methods for hearing loss collected via self-report questionnaire and markers from a genome screening collected from a population-based representative sample of male fraternal twins born from 1917 to 1927. Subjects: Members of a group of 6108 World War II and Korean War veteran twins (2059 complete pairs) who completed a health history questionnaire at a mean age of 74.3 years (range, 69-82 years). A subset of 711 twins (343 complete pairs) later provided a blood sample for DNA extraction in a study of genetic factors in healthy aging. Among the complete pairs were approximately 160 fraternal twins; 50 of these pairs were concordant for age-related hearing loss with at least 1 co-twin reporting bilateral hearing loss and with marker data available for analysis. Results: A region suggestive of linkage was found on chromosome 3q, with a logarithm of the odds score of 2.5 in the same region of this chromosome where the DFNA18 locus resides, which has been reported to cause a form of progressive hereditary hearing loss. Conclusions: To our knowledge, this is the first sample from the general population that has been used in a genome screening for qualitative hearing loss. The results, if confirmed, suggest that genetic variation in the region of DFNA18 may be responsible for hearing loss with age in the general population.

Original languageEnglish (US)
Pages (from-to)506-510
Number of pages5
JournalArchives of Otolaryngology - Head and Neck Surgery
Issue number5
StatePublished - May 2006


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