Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder.
复制标题
DOI：
10.1007/s11689-010-9071-2
复制
发表时间：
2011-06
影响因子：
4.9
通讯作者：
Levitt, Pat
中科院分区：
文献类型：
--
作者：
Campbell, Daniel B.;Datta, Dibyadeep;Jones, Shaine T.;Lee, Evon Batey;Sutcliffe, James S.;Hammock, Elizabeth A. D.;Levitt, Pat
自闭症谱系障碍（ASD）的特征是社会行为，沟通和行为灵活性的核心缺陷。几条证据表明，催产素通过其受体（OXTR）发出信号，在广泛的社会行为中很重要。在试图确定催产素信号系统中的遗传变异是否有助于ASD易感性的过程中，最近的7份报告表明OXTR基因中常见的遗传多态性与ASD相关。每一个都涉及相对较小的样本量（57至436个家庭），并且在进行检查时，未能确定OXTR多态性与ASD个体社会行为指标的关联。我们报告了对1,238个家系（包括2,333名ASD患者）中跨越OXTR位点的25个标记的遗传关联分析。观察到与ASD易感性相关的三种标记物rs 2268493（P = 0.043）、rs 1042778（P = 0.037）和rs7632287（P = 0.016）。此外，这些遗传标记与多个核心ASD表型相关，包括社交领域功能障碍，通过用于诊断和描述ASD的标准化工具测量。这些数据表明OXTR基因多态性与ASD相关，尽管结果应谨慎解释，因为没有一个显著的相关性能在多重比较的适当校正中存活。然而，目前在一个大的独立队列中的关联研究结果与以前的结果一致，催产素信号系统参与调节ASD的社会破坏特征的生物学可接受性表明，OXTR的功能多态性可能有助于ASD的风险在一个家庭的子集。
Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families.
登录
查看更多内容
影响因子：
5.2
作者：
Horvath, S;Xu, X;Laird, NM
通讯作者：
Laird, NM
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
影响因子：
10.6
作者：
Guastella, Adam J.;Einfeld, Stewart L.;Hickie, Ian B.
通讯作者：
Hickie, Ian B.
DOI：
10.1111/j.1749-6632.2009.04541.x
发表时间：
2009-01-01
期刊：
VALUES, EMPATHY, AND FAIRNESS ACROSS SOCIAL BARRIERS
影响因子：
--
作者：
Ebstein, Richard P.;Israel, Salomon;Yirmiya, Nurit
通讯作者：
Yirmiya, Nurit
影响因子：
5.3
作者：
Hurlemann, Rene;Patin, Alexandra;Kendrick, Keith M.
通讯作者：
Kendrick, Keith M.