Vrabec Jeffrey T, Liu Liqian, Li Bingshan, Leal Suzanne M
Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, U.S.A.
Otol Neurotol. 2008 Jun;29(4):561-6. doi: 10.1097/MAO.0b013e318168d23b.
There is a genetic basis for the development of Ménière's (MD) disease.
The cause of MD is unknown, although many potential theories have been proposed. A genetic basis for the disease is suggested by greater prevalence in Caucasians and familial cases that display an autosomal dominant pattern of inheritance.
METHODS/DESIGN: Case-control association study of selected candidate genes among patients with MD and selected control individuals.
Several single-nucleotide polymorphisms (SNPs) within the host cell factor C1 (HCFCI) gene displayed a significant increase in prevalence of the major allele in subjects with MD disease. The most individually significant SNP is rs2266886. The minor allele at this site displays an odds ratio of 0.26 (95% confidence intervals, 0.010-0.65; p = 0.003) for disease development.
The minor allele at each SNP site was significantly more common in controls, suggesting that individuals bearing these alleles are at reduced risk of developing MD. The functional consequences of the SNPs in host cell factor C1 are unknown. A viable hypothesis for disease development is presented based on the known interaction between HCFC1 and the herpes simplex viral protein VP16.
梅尼埃病（MD）的发生存在遗传基础。
尽管已经提出了许多潜在的理论，但MD的病因仍不清楚。白种人以及呈现常染色体显性遗传模式的家族性病例中该病的患病率较高，提示该病存在遗传基础。
方法/设计：对MD患者和选定的对照个体进行选定候选基因的病例对照关联研究。
宿主细胞因子C1（HCFCI）基因内的几个单核苷酸多态性（SNP）在MD患者中主要等位基因的患病率显著增加。最具个体显著性的SNP是rs2266886。该位点的次要等位基因在疾病发生中的优势比为0.26（95%置信区间，0.010 - 0.65；p = 0.003）。
每个SNP位点的次要等位基因在对照中明显更为常见，这表明携带这些等位基因的个体患MD的风险降低。宿主细胞因子C1中SNP的功能后果尚不清楚。基于已知的HCFC1与单纯疱疹病毒蛋白VP16之间的相互作用，提出了一个关于疾病发生的可行假说。
