Endothelin‐1 gene polymorphism and hearing impairment in elderly Japanese

Abstract

This study demonstrated that mutant T-allele carriers were associated with a higher risk of hearing impairment than carriers of wild-type homozygotes in middle-aged and elderly people. This result implies that endothelin-1 plays a valuable role in the cochlea.

New treatment options for hearing loss

“…In a Finnish population, a highly associated SNP was identified in the gene encoding the RAS GTPase-activating-like protein (IQGAP2) 58 (TABLE 4), but the association has yet to be confirmed in other populations. Other candidate-based genetic studies have established associations between ARHL and various genes, including those that are linked to oxidative stress, such as arylamine N-acetyltransferase 2 (NAT2) [62][63][64] and GST genes 63 ; transcription factors, such as grainyhead-like protein 2 homologue (GRHL2) 59 ; potassium homeostasis molecules, such as KCNQ4 65 ; the vasoactive peptide endothelin (EDN1) 66 ; mitochondrial uncoupling protein 2 (UCP2) 67 ; and mitochondrial DNA mutations [68][69][70] (TABLE 4). Further studies in different populations will be important in defining the significance of these genetic variations.…”

Dysregulated aldosterone secretion in persons of African descent with endothelin-1 gene variants

“…HTN (47), pulmonary function in chronic obstructive pulmonary disease (48), severity of obstructive sleep apnea (49), coronary artery disease (50), left ventricular hypertrophy (51), variant angina (52), and hearing impairment (53). Our study expands on this list by documenting that racial differences exists between increased ARR, a likely proximate mediator of the salt-sensitive BP, and EDN1 risk allele carriers in AD but not ED.…”

Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population

“…Several nuclear DNA polymorphisms have previously been demonstrated to be associated with HL [3,19]. Therefore, it is natural that mtDNA polymorphisms would also be thought to be associated with HL, because cells of the inner ear contain many mitochondria [18].…”