Arid
DOI10.1136/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
ISSN0022-2593
EISSN1468-6244
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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