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

Arch Otolaryngol Head Neck Surg. 2006;132:506-510.

Objective  To identify any chromosomal region that shows evidence for linkage to age-related hearing loss in humans.

Design  Evaluation of genetic linkage using sibling-pair 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.

Author Affiliations: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (Ms Garringer and Drs Pankratz and Reed); and Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio (Dr Nichols).

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