Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism
Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism
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DOI：
10.1016/j.neulet.2007.02.001
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发表时间：
2007-04-24
影响因子：
2.5
通讯作者：
Cook, Edwin H., Jr.
中科院分区：
文献类型：
--
作者：
Jacob, Suma;Brune, Camille W.;Cook, Edwin H., Jr.
由于催产素（OT）在社会认知中的作用，催产素受体基因（OXTR）已在自闭症中进行了研究。在大样本中也已经证明了与OXTR区域的连锁。在中国汉族人群中，OXTR基因的两个单核苷酸多态性（SNPs）及其构建的单倍型与孤独症相关。我们测试了这些关联是否在严格定义的自闭症白人样本中复制。我们在57个高加索自闭症三人组中对两个先前相关的SNP（rs 2254298，rs 53576）进行基因分型。先证者符合自闭症的临床、ADI-R和ADOS标准。在rs 2254298（p=0.03）检测到显著相关性，但在rs 53576未检测到相关性。对于rs 2254298，发现G等位基因向自闭症先证者的过度传递，这与先前在中国汉族样本中报道的A等位基因的过度传递形成对比。在两个样本中，G比A更频繁。然而，在我们的白人自闭症三人组和CEU白人HapMap样本中，A的频率低于中国汉族和中国人在北京HapMap样本中的报告。关联的单倍型检验没有揭示从父母到受影响后代的过度传播。这些发现为OXTR与高加索人群自闭症的关联提供了支持。不同人群中不同等位基因的过度传播可能是由于标记rs 2254298和OXTR中尚未确定的易感性变体之间的连锁不平衡的不同模式。(c)2007爱思唯尔爱尔兰有限公司保留所有权利。
The oxytocin receptor gene (OXTR) has been studied in autism because of the role of oxytocin (OT) in social cognition. Linkage has also been demonstrated to the region of OXTR in a large sample. Two single nucleotide polymorphisms (SNPs) and a haplotype constructed from them in OXTR have been associated with autism in the Chinese Han population. We tested whether these associations replicated in a Caucasian sample with strictly defined autistic disorder. We genotyped the two previously associated SNPs (rs2254298, rs53576) in 57 Caucasian autism trios. Probands met clinical, ADI-R, and ADOS criteria for autistic disorder. Significant association was detected at rs2254298 (p=0.03) but not rs53576. For rs2254298, overtransmission of the G allele to probands with autistic disorder was found which contrasts with the overtransmission of A previously reported in the Chinese Han sample. In both samples, G was more frequent than A. However, in our Caucasian autism trios and the CEU Caucasian HapMap samples the frequency of A was less than that reported in the Chinese Han and Chinese in Bejing HapMap samples. The haplotype test of association did not reveal excess transmission from parents to affected offspring. These findings provide support for association of OXTR with autism in a Caucasian population. Overtransmission of different alleles in different populations may be due to a different pattern of linkage disequilibrium between the marker rs2254298 and an as yet undetermined susceptibility variant in OXTR. (c) 2007 Elsevier Ireland Ltd. All rights reserved.