Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.
Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.
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DOI：
10.1111/j.1601-183x.2008.00414.x
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发表时间：
2008-10
期刊：
影响因子：
--
通讯作者：
Craig IW
中科院分区：
文献类型：
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作者：
Loat CS;Curran S;Lewis CM;Duvall J;Geschwind D;Bolton P;Craig IW
甲基结合蛋白基因，MECP 2，是参与自闭症的候选者，因为它暗示Rett综合征的主要致病因素与自闭症有相似之处。MECP 2中的罕见突变也在自闭症个体中被确定。我们已经研究了可能更广泛的参与MECP 2作为一个诱发因素的障碍。多态性标记跨越基因，包括微卫星和单核苷酸多态性（SNP）的传输不平衡测试在两个集合的家庭（共219），一个在美国和一个在英国，分析提供了证据的显着关联（P = 0.009）的三个标记SNP单倍型的MECP 2自闭症/自闭症谱系障碍。位于MECP 2基因座3′端的单序列重复（SSR）和SNP单标记与侧翼序列的关联支持了这种关联，最显著的是位于内含子2的indel标记（P = 0.001 - Bonferroni校正P = 0.006）。这表明，在人群中以显著频率存在的一种或多种MECP 2功能变体可能会增加自闭症/自闭症谱系障碍的风险，并需要在其他独立样本中进行进一步研究。
The methyl-binding protein gene, MECP2, is a candidate for involvement in autism through its implication as a major causative factor in Rett syndrome that has similarities to autism. Rare mutations in MECP2 have also been identified in autistic individuals. We have examined the possible broader involvement of MECP2 as a predisposing factor in the disorder. Analysis of polymorphic markers spanning the gene and comprising both microsatellites and single nucleotide polymorphisms (SNPs) by the transmission disequilibrium test in two collections of families (219 in total), one in the USA and one in the UK, has provided evidence for significant association (P = 0.009) for a three-marker SNP haplotype of MECP2 with autism/autism spectrum disorders. This association is supported by association of both Single Sequence Repeat (SSR) and SNP single markers located at the 3′ end of the MECP2 locus and flanking sequence, the most significant being that of an indel marker located in intron 2 (P = 0.001 – Bonferroni corrected P = 0.006). This suggests that one or more functional variants of MECP2 existing at significant frequencies in the population may confer increased risk of autism/autism spectrum disorders and warrants further investigation in additional independent samples.