MACROD2 gene associated with autistic-like traits in a general population sample.
MACROD2 gene associated with autistic-like traits in a general population sample.
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DOI：
10.1097/ypg.0000000000000052
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发表时间：
2014-12
影响因子：
0.9
通讯作者：
Moses EK
中科院分区：
文献类型：
--
作者：
Jones RM;Cadby G;Blangero J;Abraham LJ;Whitehouse AJO;Moses EK
现在有大量的证据表明，一般人群中的自闭症样特征是一个连续体，临床自闭症谱系障碍（ASD）代表了这个分布的极端。在这项研究中，我们试图评估五个独立确定的遗传协会与ASD与自闭症样性状在一般人群中。在研究队列中，临床表型和全基因组关联基因型数据来自西澳大利亚妊娠队列（Raine）研究。结果的衡量标准是自闭症谱系商（AQ），在队列中的个人自闭症样特征的定量测量。计算每个人的AQ总分以及三个分量表的得分。在先前发表的全基因组关联研究中，选择了五个与ASD相关的候选单核苷酸多态性（SNP），使用P小于1.0 × 10−5的标称截止值。在调整可能的混杂因素后，我们测试了这五个SNP是否与总AQ和分量表相关。位于macro domain containing 2（MACROD 2）基因的SNP rs 4141463与沟通/读心子量表显著相关。没有其他SNP与总AQ或分量表显著相关。在一般人群中，MACROD 2基因是自闭症样特征的一个强有力的位置候选风险因素。
There is now substantial evidence that autistic-like traits in the general population lie on a continuum, with clinical autism spectrum disorders (ASD) representing the extreme end of this distribution. In this study, we sought to evaluate five independently identified genetic associations with ASD with autistic-like traits in the general population. In the study cohort, clinical phenotype and genomewide association genotype data were obtained from the Western Australian Pregnancy Cohort (Raine) Study. The outcome measure used was the Autism Spectrum Quotient (AQ), a quantitative measure of autistic-like traits of individuals in the cohort. Total AQ scores were calculated for each individual, as well as scores for three subscales. Five candidate single nucleotide polymorphism (SNP) associations with ASD, reported in previously published genomewide association studies, were selected using a nominal cutoff value of P less than 1.0 × 10−5. We tested whether these five SNPs were associated with total AQ and the subscales, after adjustment for possible confounders. SNP rs4141463 located in the macro domain containing 2 (MACROD2) gene was significantly associated with the Communication/Mindreading subscale. No other SNP was significantly associated with total AQ or the subscales. The MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population.