https://transhumanist.ru/index.php?action=history&feed=atom&title=EYA4 2026-04-13T11:20:12Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=EYA4&diff=6507&oldid=prev 2021-05-12T15:34:16Z

<p>Новая страница: «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 Electr...»</p> <p><b>Новая страница</b></p><div>Eyes absent homolog 4 (EC 3.1.3.48)<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27764096<br /> |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&#039; 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.<br /> |mesh-terms=* Adult<br /> * Aging<br /> * Electronic Health Records<br /> * Ethnic Groups<br /> * Exonucleases<br /> * Exoribonucleases<br /> * Female<br /> * Genetic Predisposition to Disease<br /> * Genome-Wide Association Study<br /> * Genotype<br /> * Hearing Loss<br /> * Humans<br /> * Male<br /> * Microfilament Proteins<br /> * Phenotype<br /> * Polymorphism, Single Nucleotide<br /> * Presbycusis<br /> * Receptors, Cell Surface<br /> * Trans-Activators<br /> <br /> |full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072625<br /> }}</div>

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