孤独症与位于2号染色体2q31区域的线粒体天冬氨酸/谷氨酸载体SLC25A12基因之间关联的确认。

Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31.

作者信息

Segurado Ricardo, Conroy Judith, Meally Eleanor, Fitzgerald Michael, Gill Michael, Gallagher Louise

机构信息

Department of Genetics, Trinity College, Dublin 2, Ireland.

出版信息

Am J Psychiatry. 2005 Nov;162(11):2182-4. doi: 10.1176/appi.ajp.162.11.2182.

DOI:10.1176/appi.ajp.162.11.2182

PMID:16263864

Abstract

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.

摘要

目的

自闭症是一种起病于儿童期的神经发育障碍，已知其具有重要的遗传因素。最近一项研究发现自闭症与溶质载体家族25成员12（SLC25A12）基因中的一种双单核苷酸多态性单倍型之间存在高度显著的关联，纯合子基因型相对风险在2.4至4.8之间。作者的目标是在爱尔兰自闭症患儿 - 父母三联体中研究这种与自闭症的关联，因为在独立样本中进行重复验证对于确认此类潜在重要发现至关重要。