Редактирование: EYA4

Eyes absent homolog 4 (EC 3.1.3.48)

==Publications==

{{medline-entry
|title=A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27764096
|abstract=Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3' of [[ISG20]], which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0.00094) and in a UK Biobank case-control analysis (30,802 self-reported cases, 78,586 controls, p = 0.015); and rs58389158 (odds ratio = 1.132, p = 1.8x10-9), which replicated in the UK Biobank (p = 0.00021). The latter SNP lies just outside exon 8 and is highly correlated (r2 = 0.96) with the missense SNP rs5756795 in exon 7 of [[TRIOBP]], a gene previously associated with prelingual nonsyndromic hearing loss. We further tested these SNPs in phenotypes from audiologist notes available on a subset of GERA (4,903 individuals), stratified by case/control status, to construct an independent replication test, and found a significant effect of rs58389158 on speech reception threshold (SRT; overall GERA meta-analysis p = 1.9x10-6). We also tested variants within exons of 132 other previously-identified hearing loss genes, and identified two common additional significant SNPs: rs2877561 (synonymous change in [[ILDR1]], p = 6.2x10-5), which replicated in the UK Biobank (p = 0.00057), and had a significant GERA SRT (p = 0.00019) and speech discrimination score ([[SDS]]; p = 0.0019); and rs9493627 (missense change in [[EYA4]], p = 0.00011) which replicated in the UK Biobank (p = 0.0095), other GERA groups (p = 0.0080), and had a consistent significant result for SRT (p = 0.041) and suggestive result for [[SDS]] (p = 0.081). Large cohorts with GWAS data and electronic health records may be a useful method to characterize the genetic architecture of ARHI.
|mesh-terms=* Adult
* Aging
* Electronic Health Records
* Ethnic Groups
* Exonucleases
* Exoribonucleases
* Female
* Genetic Predisposition to Disease
* Genome-Wide Association Study
* Genotype
* Hearing Loss
* Humans
* Male
* Microfilament Proteins
* Phenotype
* Polymorphism, Single Nucleotide
* Presbycusis
* Receptors, Cell Surface
* Trans-Activators

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072625
}}