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首页> 外文期刊>BMC Genetics >ADAM23 is a common risk gene for canine idiopathic epilepsy
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ADAM23 is a common risk gene for canine idiopathic epilepsy

机译:ADAM23是犬特发性癫痫的常见危险基因

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Background Idiopathic or genetic adult-onset epilepsy is a common neurological disorder in domestic dogs. Genetic association has been reported only with ADAM23 on CFA 37 in few breeds. To identify novel epilepsy genes, we performed genome-wide association (GWA) analyses in four new breeds, and investigated the association of the previously reported ADAM23 haplotype with the epilepsy phenotype in eight breeds. Results GWA analysis did not reveal new epilepsy loci. ADAM23 association ( p ?6, OR 1.9). Conclusions Our results further support the role of ADAM23 in multiple breeds as a common risk gene for epilepsy with low penetrance. The lack of findings in the GWA analyses points towards inefficient capture of genetic variation by the current SNP arrays, causal variant(s) with low penetrance and possible phenocopies. Future work will include studies on ADAM23 function and expression in canine neurons, as well as whole-genome sequencing in order to identify additional IE genes.
机译:背景特发性或遗传性成人发作性癫痫是家犬中常见的神经系统疾病。仅在少数几个品种中与CFA 37上的ADAM23发生了遗传关联。为了鉴定新的癫痫基因,我们在四个新品种中进行了全基因组关联(GWA)分析,并调查了先前报道的ADAM23单倍型与八个品种中癫痫表型的关联。结果GWA分析未发现新的癫痫位点。 ADAM23关联(p?6 ,或1.9)。结论我们的结果进一步支持了ADAM23在多个品种中作为低渗透性癫痫的常见危险基因的作用。 GWA分析中缺乏发现,表明当前的SNP阵列,低渗透性的因果变体和可能的表型无法有效捕获遗传变异。未来的工作将包括对ADAM23功能和犬神经元表达的研究,以及全基因组测序,以鉴定其他IE基因。

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