Table 1 Genes associated with vertigo, their function and previous associations.
From: A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo
Gene | Function of gene | Previous evidence in human and animal studies |
|---|---|---|
ZNF91 | Primate-specific KRAB zinc finger gene, rapidly evolved to repress SINE-VNTR-Alu (SVA) transposons and long interspersed nuclear element-1 (LINE-1)56, elements that can lead to sporadic diseases via e.g. exon shuffling and alternative splicing. | — |
TECTA | Encodes α-tectorin, one of the major components of the tectorial membrane, an extracellular matrix covering the neuroepithelium in the inner ear that contacts the stereocilia, a specialized sensory hair cell bundle30. | Autosomal dominant non-syndromic hearing impairment in humans57 and mice58, 59 and a recessive form of sensorineural pre-lingual non-syndromic deafness in humans60. |
ARMC9 | Encodes Armadillo repeat containing 9 which localizes to the ciliary basal body and daughter centriole and has a predicted function in ciliogenesis22. | Autosomal recessive Joubert syndrome and ciliopathy phenotypes in zebrafish22. |
OTOG | Encodes the glycoprotein Otogelin, present in acellular membranes covering six sensory epithelial patches of the inner ear. Involved in anchoring otolithic membranes and cupulae to the neuroepithelia in the vestibule and organizing the fibrillary network that composes the tectorial membrane in cochlea27. | Autosomal recessive deafness61 and Menière’s disease62 in humans and mice and severe imbalance in mice27. |
OTOGL | A paralog of OTOG. Structural and expressional similarities suggest similar function24, 26. | Autosomal recessive hearing loss and sensorineural hearing loss in zebrafish24, 26. |
OTOP1 | Otopetrin 1 is a proton-selective ion channel that is required for the formation of otoconia, calcium carbonate crystals that detect linear acceleration and gravity63. | Unusual bilateral vestibular pathology in the absence of otoconia without hearing impairment in mice and zebrafish64, 65. |