Juvenile Idiopathic Epilepsy in Arabian horses is not a single-gene disorder

Juvenile Idiopathic Epilepsy is characterized by tonic-clonic seizures in young Egyptian Arabian foals. The common signs include, disorientation and seizures which can sometimes lead to death and temporary blindness. Some foals grow out of the condition while others do not. Based on veterinary diagnosis, we included 180 horses (60 cases, 120 controls) for genotyping on the Affymetrix 670k genotyping array. A GWAs was performed on a genetically matched 1:2 case/control set, totaling 180 individuals using a GRM. We also performed two separate GWAS for coat color to test the efficacy of the JIE GWAS. This dataset includes genotypes for horses that passed the minor allele frequency of 0.05 and genotyping rate above 95%.幼年特发性癫痫（Juvenile Idiopathic Epilepsy）以埃及阿拉伯幼驹出现强直-阵挛性发作为典型特征。其常见临床表现包括定向障碍与癫痫发作，严重时可因发作引发死亡及暂时性失明。部分幼驹可随生长发育摆脱该病症，其余个体则无法自愈。基于兽医诊断结果，本研究纳入180匹马（60例病例组、120例对照组），采用Affymetrix 670K基因分型芯片（Affymetrix 670k genotyping array）完成基因分型。随后针对1:2配比的遗传匹配病例对照队列（共计180个个体），借助遗传关系矩阵（GRM）开展全基因组关联分析（GWAS）。此外，本研究还针对被毛颜色开展了两项独立的全基因组关联分析，以验证幼年特发性癫痫关联分析的有效性。本数据集包含满足次要等位基因频率（minor allele frequency）≥0.05、且基因分型成功率高于95%的马匹基因型数据。

搜集汇总

背景与挑战

背景概述

该数据集专注于阿拉伯马幼年特发性癫痫的遗传学研究，基于180匹马（60例病例和120例对照）的基因型数据进行全基因组关联分析（GWAS），强调该疾病并非单基因障碍。数据集提供了经过质量控制的基因型数据，适用于进一步遗传分析，并包含相关表型文件，支持开放获取（CC BY 4.0许可证）。