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Updated: Jul 4, 2026
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Sequence variants in host cell factor C1 are associated with Ménière's disease
Jeffrey T Vrabec1, Liqian Liu, Bingshan Li
1Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, U.S.A. jvrabec@bcm.edu
Hypothesis:
There is a genetic basis for the development of Ménière's (MD) disease.
Background:
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.
Results:
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.
Conclusion:
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.
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