Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, University Duisburg-Essen, Germany.
Otol Neurotol. 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a.
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.
Retrospective and prospective family survey.
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.
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.
Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.
梅尼埃病（MD）是一种以感觉神经性听力损失、反复发作性眩晕和耳鸣为特征的慢性疾病。虽然已经描述了几个具有常染色体显性遗传和低外显率的家族，但该病可能具有多因素的起源。为了阐明 MD 的遗传基础，对患者及其家属进行了调查，并进行了连锁分析。
回顾性和前瞻性家族调查。
在 193 名被诊断为 MD 的患者中，有 37 名患者可被确定为有阳性家族史，即频率为 19.2%。根据美国耳鼻喉科学院听力与平衡委员会的指南，对 19 个有 81 名成员的家族（52 名 MD 阳性，29 名 MD 阴性）进行了调查。采集血样，用微卫星标记物进行全基因组连锁分析。
发病年龄在后代中逐渐减小。我们发现了假设 MD 存在异质性的连锁证据，假设 MD 在 5 号染色体上存在多基因对数优势（LOD）评分 1.9 的 17 个家族中的 13 个和 8 个家族中的 12 号染色体上的潜在区域。在 81 名受试者中，27 名（33.3%）仅报告 MD，25 名（30.9%）报告偏头痛和 MD，7 名（8.6%）仅报告偏头痛。
家族树提示存在常染色体显性遗传、低外显率和前趋性。MD 的一个可能候选区域位于 5 号染色体上。
