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The first genome-wide association study concerning idiopathic epilepsy in Petit Basset Griffon Vendeen
Animal Genetics ( IF 1.8 ) Pub Date : 2021-08-12 , DOI: 10.1111/age.13128
T Deschain 1 , J Fabricius 1 , M Berendt 2 , M Fredholm 1 , P Karlskov-Mortensen 1
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The dog breed Petit Basset Griffon Vendeen has a relatively high prevalence of idiopathic epilepsy compared to other dog breeds and previous studies have suggested a genetic cause of the disease in this breed. Based on these observations, a genome-wide association study was performed to identify possible epilepsy-causing loci. The study included 30 unaffected and 23 affected dogs, genotyping of 170K SNPs, and data analysis using plink and emmax. Suggestive associations at CFA13, CFA24 and CFA35 were identified with markers close to three strong candidate genes. However, subsequent sequencing of exons of the three genes did not reveal sequence variations, which could explain development of the disease. This is, to our knowledge, the first report on loci and genes with a possible connection to idiopathic epilepsy in Petit Basset Griffon Vendeen. However, further studies are needed to conclusively identify the genetic cause of idiopathic epilepsy in this dog breed.

中文翻译:

第一个关于 Petit Basset Griffon Vendeen 特发性癫痫的全基因组关联研究

与其他犬种相比,Petit Basset Griffon Vendeen 犬种的特发性癫痫发病率相对较高,之前的研究表明该犬种的疾病是由遗传原因引起的。基于这些观察结果,进行了全基因组关联研究以确定可能的癫痫病基因位点。该研究包括 30 只未受影响和 23 只受影响的狗,对 170K SNP 进行基因分型,并使用plinkemmax 进行数据分析. CFA13、CFA24 和 CFA35 的暗示性关联是通过接近三个强候选基因的标记确定的。然而,随后对这三个基因的外显子进行测序并没有揭示序列变异,这可以解释疾病的发展。据我们所知,这是第一份关于可能与 Petit Basset Griffon Vendeen 特发性癫痫有关的位点和基因的报告。然而,需要进一步的研究来最终确定该犬种特发性癫痫的遗传原因。
更新日期:2021-09-06
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