Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31
Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31
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DOI：
10.1176/appi.ajp.162.11.2182
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发表时间：
2005-11-01
影响因子：
17.7
通讯作者：
Gallagher, L
中科院分区：
文献类型：
--
作者：
Segurado, R;Conroy, J;Gallagher, L
目的：孤独症是一种儿童期发病的神经发育障碍性疾病，其主要遗传因素是孤独症的遗传因素。最近的一项研究确定了自闭症与SLC25A12基因中的两个单核苷酸多态性单倍型之间的高度显着关联，纯合子基因型相对风险在2.4和4.8之间。作者的目标是调查这种关联与自闭症在爱尔兰受影响的儿童父母trios，因为在一个独立的样本中的复制是必不可少的验证这种潜在的重要findings.Method：标记rs2056202和rs2292813基因分型，共158三（442人）。传递不平衡检验被用来检查这些标记与autosit.Results：在最近的研究协议，作者发现自闭症和C等位基因的两个rs2056202和rs2292813以及两个标记haplotype.Conclusions：这些发现提供了复制自闭症和SLC25A12之间的关联。
Objective: Autism is a neurodevelopmental disorder with childhood onset and a known major genetic component. A recent study identified a highly significant association between autism and a two-single-nucleotide-polymorphism haplotype in the SLC25A12 gene, with a homozygote genotype relative risk between 2.4 and 4.8. The authors' goal was to investigate this association with autism in Irish affected child-parent trios because replication in an independent sample is essential in the validation of such potentially important findings.Method: Markers rs2056202 and rs2292813 were genotyped in a total of 158 trios ( 442 individuals). The Transmission Disequilibrium Test was used to examine these markers for association with autism.Results: In agreement with the recent study, the authors found significant association between autism and the C alleles of both rs2056202 and rs2292813 as well as the two-marker haplotype.Conclusions: These findings provide replication of the association between autism and SLC25A12.