Hearing impairment susceptibility in elderly men and the DFNA18 locus
Hearing impairment susceptibility in elderly men and the DFNA18 locus
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DOI：
10.1001/archotol.132.5.506
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发表时间：
2006-05-01
影响因子：
--
通讯作者：
Reed, T
中科院分区：
文献类型：
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作者：
Garringer, HJ;Pankratz, ND;Reed, T
目的：为了确定任何显示与人类年龄相关性听力损失相关的证据的染色体区域。设计：使用同胞对方法评估遗传连锁，通过自我报告问卷和来自基因组筛查的标记收集听力损失，该基因组筛查来自1917年至1927年出生的男性异卵双胞胎的代表性样本。一组6108名第11次世界大战和朝鲜战争退伍军人双胞胎（2059对完整双胞胎）的成员，他们完成了健康史问卷，平均年龄为74.3岁（范围，69-82岁）。711对双胞胎（343对完整的双胞胎）的一个子集后来提供了一份血液样本，用于健康老龄化遗传因素的研究中的DNA提取。在完整的双胞胎中约有160对异卵双胞胎;其中50对与年龄相关的听力损失一致，至少有一对双胞胎报告双侧听力损失，并有标记数据可供分析。在染色体3q上发现了一个暗示连锁的区域，在该染色体的DFNA 18基因座所在的同一区域中，比值分数的对数为2.5，结论：据我们所知，这是第一个来自普通人群的样本，已被用于基因组筛查定性听力损失。如果得到证实，结果表明DFNA 18区域的遗传变异可能是导致一般人群中听力损失的原因。
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 11 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.