Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10.
Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10.
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DOI：
10.1186/2040-2392-5-55
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发表时间：
2014
期刊：
影响因子：
6.2
通讯作者：
Melke J
中科院分区：
文献类型：
--
作者：
Jonsson L;Zettergren A;Pettersson E;Hovey D;Anckarsäter H;Westberg L;Lichtenstein P;Lundström S;Melke J
自闭症样特征（autism -like traits, ALTs）在普通人群中持续分布，自闭症谱系障碍（autism spectrum disorder， ASD）处于最高端。ALTs和ASD之间存在遗传重叠，表明ASD候选基因的共同变异也可能影响ALTs。在我们的研究中，我们研究了与ALTs和ASD相关的SNP rs4307059。此外，我们选择了与突触功能相关的基因，即SHANK3、RELN和CNTNAP2，这些基因的多态性进行了基因分型，这些基因多次与ASD相关。这些多态性与alt的可能关联，以及神经发育问题（ndp）的遗传因素，在一个来自普通人群的大型队列中进行了调查：瑞典的儿童和青少年双胞胎研究。ALTs和ndp分别纳入12319例（包括2268对单卵双胞胎和3805对双卵双胞胎）和8671例（包括2243对MZ和2044对DZ双胞胎）。我们无法重复先前rs4307059与社交障碍之间的关联。此外，在我们的研究中，CNTNAP2 （rs7794745和rs2710102）、RELN （rs362691）和SHANK3 （rs9616915）的常见变异与ALTs没有显著相关性。我们的研究结果并不表明先前发现的与ASD诊断相关的基因对普通人群中儿童的alt有任何重大影响。本文的在线版本（doi:10.1186/2040-2392-5-55）包含补充材料，可供授权用户使用。
Autistic-like traits (ALTs) are continuously distributed in the general population, with the autism spectrum disorder (ASD) at the upper extreme end. A genetic overlap has been shown between ALTs and ASD, indicating that common variation in ASD candidate genes may also influence ALTs. In our study, we have investigated the SNP rs4307059 that has been associated with both ALTs and ASD. In addition, we genotyped polymorphisms in a selection of genes involved in synaptic functioning, that is, SHANK3, RELN, and CNTNAP2, which repeatedly have been associated with ASD. The possible associations of these polymorphisms with ALTs, as well as genetic factors for neurodevelopmental problems (NDPs), were investigated in a large cohort from the general population: The Child and Adolescent Twin Study in Sweden. For analyses of ALTs and NDPs, 12,319 subjects (including 2,268 monozygotic (MZ) and 3,805 dizygotic (DZ) twin pairs) and 8,671 subjects (including 2,243 MZ and 2,044 DZ twin pairs), respectively, were included in the analyses. We could not replicate the previous association between rs4307059 and social communication impairment. Moreover, common variations in CNTNAP2 (rs7794745 and rs2710102), RELN (rs362691), and SHANK3 (rs9616915) were not significantly associated with ALTs in our study. Our results do not suggest that the investigated genes, which previously has been found associated with ASD diagnosis, have any major influence on ALTs in children from the general population. The online version of this article (doi:10.1186/2040-2392-5-55) contains supplementary material, which is available to authorized users.
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影响因子：
30.8
作者：
Durand, Christelle M.;Betancur, Catalina;Bourgeron, Thomas
通讯作者：
Bourgeron, Thomas
影响因子：
1.9
作者：
Ma D;Salyakina D;Jaworski JM;Konidari I;Whitehead PL;Andersen AN;Hoffman JD;Slifer SH;Hedges DJ;Cukier HN;Griswold AJ;McCauley JL;Beecham GW;Wright HH;Abramson RK;Martin ER;Hussman JP;Gilbert JR;Cuccaro ML;Haines JL;Pericak-Vance MA
通讯作者：
Pericak-Vance MA
DOI：
10.1111/j.1601-183x.2011.00684.x
发表时间：
2011-06
期刊：
Genes, brain, and behavior
影响因子：
--
作者：
Whitehouse AJ;Bishop DV;Ang QW;Pennell CE;Fisher SE
通讯作者：
Fisher SE
影响因子：
158.5
作者：
Strauss, KA;Puffenberger, EG;Morton, DH
通讯作者：
Morton, DH
影响因子：
--
作者：
Lundstrom, Sebastian;Chang, Zheng;Lichtenstein, Paul
通讯作者：
Lichtenstein, Paul