Oulu Center for Cell-Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Finland.
Genet Med. 2011 May;13(5):415-20. doi: 10.1097/GIM.0b013e3182091a41.
To study the inheritance and characteristics of familial Meniere disease in Finland and genetic linkage to the previously proposed locus on chromosome 12p12.3.
Sixteen Meniere families recruited from Kainuu Central Hospital and Helsinki and Oulu University Hospitals in the period 2001-2004 were reevaluated in 2009 using hospital records and mailed questionnaire forms. Ten highly polymorphic microsatellite markers were selected from the area of chromosome 12p12.3 and studied for linkage using the GENEHUNTER protocol.
The families showed autosomal dominant inheritance without cosegregation with migraine. Anticipation was seen only in one family, and in the rest of the families, the age of onset varied randomly among generations and individuals. The severity of the disease was not related to descending generations. None of the maximum logarithm of odds (LOD)/heterogeneity LOD scores in the analysis of chromosome 12p12.3 in Finnish Meniere families reached a significant value of 3.0 (maximum cumulative LOD score: -7.29, heterogeneity LOD: -0.95, α = 0.4).
Families affected by Meniere disease are highly heterogeneous. Migraine, age at onset, anticipation, or penetrance was not a shared feature. The findings support the multifactorial nature of the disease and indicate that genetic heterogeneity exists within familial Meniere disease.
研究芬兰家族性梅尼埃病的遗传特征及其与先前在 12p12.3 染色体上提出的基因座的遗传连锁关系。
2001 年至 2004 年期间，我们从卡累利阿中央医院（Kainuu Central Hospital）、赫尔辛基大学医院（Helsinki University Hospital）和奥卢大学医院（Oulu University Hospital）招募了 16 个梅尼埃病家族，并于 2009 年通过医院记录和邮寄问卷表对这些家族进行了重新评估。从 12p12.3 区域选择了 10 个高度多态性微卫星标记物，使用 GENEHUNTER 协议对其进行连锁分析。
这些家族表现出常染色体显性遗传，与偏头痛无共分离。仅在一个家族中观察到预期现象，而在其余家族中，各代和个体之间的发病年龄随机变化。疾病的严重程度与世代下降无关。在芬兰梅尼埃病家族中对 12p12.3 染色体的分析中，没有一个最大对数优势（LOD）/异质性 LOD 评分达到 3.0 的显著值（最大累积 LOD 评分：-7.29，异质性 LOD：-0.95，α=0.4）。
受梅尼埃病影响的家族高度异质。偏头痛、发病年龄、预期或外显率不是共同特征。这些发现支持该疾病的多因素性质，并表明家族性梅尼埃病存在遗传异质性。
