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DOI | 10.1136/jmg.2010.088310 |
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways | |
Girotto, Giorgia1; Pirastu, Nicola1; Sorice, Rossella2; Biino, Ginevra3,4; Campbell, Harry5; d’Adamo, Adamo P.1; Hastie, Nicholas D.6; Nutile, Teresa2; Polasek, Ozren5,7; Portas, Laura3; Rudan, Igor5,7; Ulivi, Sheila1; Zemunik, Tatijana7; Wright, Alan F.6; Ciullo, Marina2; Hayward, Caroline6; Pirastu, Mario3,4; Gasparini, Paolo1 | |
通讯作者 | Gasparini, Paolo |
来源期刊 | JOURNAL OF MEDICAL GENETICS
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ISSN | 0022-2593 |
EISSN | 1468-6244 |
出版年 | 2011 |
卷号 | 48期号:6页码:369-374 |
英文摘要 | Background Hearing is a complex trait, but until now only a few genes are known to contribute to variability of this process. In order to discover genes and pathways that underlie auditory function, a genome-wide association study was carried out within the International Consortium G-EAR. Methods Meta-analysis of genome-wide association study’s data from six isolated populations of European ancestry for an overall number of 3417 individuals. Results Eight suggestive significant loci (p<10(-7)) were detected with a series of genes expressed within the inner ear such as: DCLK1, PTPRD, GRM8, CMIP. Additional biological candidates marked by a single nucleotide polymorphism (SNP) with a suggestive association (p<10(-6)) were identified, as well as loci encompassing ’gene desert regions’-genes of unknown function or genes whose function has not be linked to hearing so far. Some of these new loci map to already known hereditary hearing loss loci whose genes still need to be identified. Data have also been used to construct a highly significant ’in silico’ pathway for hearing function characterised by a network of 49 genes, 34 of which are certainly expressed in the ear. Conclusion These results provide new insights into the molecular basis of hearing function and may suggest new targets for hearing impairment treatment and prevention. |
类型 | Article |
语种 | 英语 |
国家 | Italy ; Scotland ; Croatia |
收录类别 | SCI-E |
WOS记录号 | WOS:000290958600002 |
WOS关键词 | INNER-EAR ; GENE-EXPRESSION ; CHANNELS ; COMPLEX |
WOS类目 | Genetics & Heredity |
WOS研究方向 | Genetics & Heredity |
资源类型 | 期刊论文 |
条目标识符 | http://119.78.100.177/qdio/handle/2XILL650/169338 |
作者单位 | 1.Univ Trieste, Dept Reprod Sci Dev & Publ Hlth, IRCCS Burlo Garofolo Children Hosp, I-34100 Trieste, Italy; 2.CNR, Inst Genet & Biophys A Buzzati Traverso, I-80125 Naples, Italy; 3.Natl Res Council Italy, Inst Populat Genet, Sassari, Italy; 4.Shardna Life Sci, Cagliari, Italy; 5.Univ Edinburgh, Sch Med, Ctr Populat Hlth Sci, Edinburgh, Midlothian, Scotland; 6.Western Gen Hosp, MRC Human Gent Unit, Inst Genet & Mol Med, Edinburgh EH4 2XU, Midlothian, Scotland; 7.Univ Split, Croatian Ctr Global Hlth, Sch Med, Split, Croatia |
推荐引用方式 GB/T 7714 | Girotto, Giorgia,Pirastu, Nicola,Sorice, Rossella,et al. Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways[J],2011,48(6):369-374. |
APA | Girotto, Giorgia.,Pirastu, Nicola.,Sorice, Rossella.,Biino, Ginevra.,Campbell, Harry.,...&Gasparini, Paolo.(2011).Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.JOURNAL OF MEDICAL GENETICS,48(6),369-374. |
MLA | Girotto, Giorgia,et al."Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways".JOURNAL OF MEDICAL GENETICS 48.6(2011):369-374. |
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