Rodríguez-de la Rosa on Muck Rack

Rodríguez-de la Rosa

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A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly - Genome Medicine

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By Rodríguez-de la Rosa, Juan Carlos, Universidad de Granada, Sensorineural Pathology Programme
| Genome Medicine Verified
A total of 71 variants in 19 connexin genes with an AF < 0.05 were retained to carry out a GBA in FMD individuals (Table 1, Additional file 1: Fig. S1 and Table S1). Variants were classified according to the consequence in the protein, the most common being missense variants. We found an enrichment of missense variants in the GJD3 gene when comparing the AF in FMD against the Spanish population from CSVS (OR = 3.9 [1.92–7.91], FDR = 2.36E–03, EF = 0.74).
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