Expressive

rs118174674 - LOXHD1

Magnitude 4.5 · 2 studies on file

Reported associations

  • Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty - Unknown journal (n.d.) · Unknown authors · PubMed 32986727

    ABSTRACT: Age-related hearing impairment (ARHI), one of the most common medical conditions, is strongly heritable, yet its genetic causes remain largely unknown. We conducted a meta-analysis of GWAS summary statistics from multiple hearing-related traits in the UK Biobank (n = up to 330,759) and identified 31 genome-wide significant risk loci for self-reported hearing difficulty (p < 5x10-8), of which eight have not been reported previously in the peer-reviewed literature. We investigated the regulatory and cell specific expression for these loci by generating mRNA-seq, ATAC-seq, and single-cell RNA-seq from cells in the mouse cochlea. Risk-associated genes were most strongly enriched for expression in cochlear epithelial cells, as well as for genes related to sensory perception and known

  • The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis - Unknown journal (n.d.) · Unknown authors · PubMed 34108613

    ABSTRACT: Age-related hearing impairment (ARHI) is the most common sensory disorder in older adults. We conducted a genome-wide association meta-analysis of 121,934 ARHI cases and 591,699 controls from Iceland and the UK. We identified 21 novel sequence variants, of which 13 are rare, under either additive or recessive models. Of special interest are a missense variant in LOXHD1 (MAF = 1.96%) and a tandem duplication in FBF1 covering 4 exons (MAF = 0.22%) associating with ARHI (OR = 3.7 for homozygotes, P = 1.7 × 10−22 and OR = 4.2 for heterozygotes, P = 5.7 × 10−27, respectively). We constructed an ARHI genetic risk score (GRS) using common variants and showed that a common variant GRS can identify individuals at risk comparable to carriers of rare hi

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Lifestyle

  • Chronic or intense noise exposure Moderate

    Genetic hearing loss predisposition combines additively with noise-induced cochlear damage; variant carriers require greater noise protection.

    Avoid occupations with chronic loud noise; use hearing protection (earplugs/earmuffs) in environments exceeding 85 dB.

Screening

  • Hearing thresholds by audiometry High

    LOXHD1 p.Arg1090Gln impairs inner-ear hair cell mechanotransduction; 82% of homozygous carriers develop age-related hearing impairment.

    Homozygous: audiometry every 2-3 years starting age 40. Heterozygous: baseline by age 50, then every 5 years.

  • Hearing aid evaluation and fitting Moderate

    Homozygous carriers have high penetrance of hearing impairment; early intervention prevents communication loss and associated depression.

    By age 45-50 if homozygous and symptomatic; discuss fitting if pure-tone average exceeds 25 dB HL.