Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.
Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.
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DOI：
10.1007/s00439-010-0899-z
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发表时间：
2011-01
期刊：
影响因子：
5.3
通讯作者：
Wijsman EM
中科院分区：
文献类型：
--
作者：
Chapman NH;Estes A;Munson J;Bernier R;Webb SJ;Rothstein JH;Minshew NJ;Dawson G;Schellenberg GD;Wijsman EM
在对自闭症患者认知能力的研究中，经常观察到操作智商(PIQ)高于言语智商(VIQ)。这一特征与社交和沟通障碍有关，而社交和沟通障碍是自闭症诊断的关键部分。我们首次提出了智商差异的遗传分析(PIQ-VIQ)，作为自闭症相关的表型。我们使用马尔科夫链蒙特卡罗方法对287个多基因家系进行了全基因组范围的联合连锁和分离分析。遗传数据包括对210个家庭的387个微卫星标记进行基因组扫描，并在一个家庭子集中添加额外的标记。计算了五个感兴趣区域的经验P值。连锁分析发现有5个染色体区域存在连锁现象：10p12[P=0.001；全基因组P=0.05]、16q23(P=0.015；GW P=0.53)、2p21(P=0.03，GW P=0.78)、6q25(P=0.047，GW P=0.91)和15q23-25(P=0.053，GW P=0.93)。10号染色体连锁信号的位置与更早的自闭症基因组扫描中记录的区域一致，16号染色体信号与特定语言障碍的非单词重复的连锁信号完全一致。这项研究提供了强有力的证据，证明了10号染色体上的QTL影响自闭症患者家庭的智商差异，并暗示了16号染色体上的QTL。16号染色体信号的位置表明，候选基因CDH13在大脑中表达，CDH13是一种T-钙粘附素，在以前的自闭症和ADHD的SNP研究中已被发现。
Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals. This characteristic is correlated with social and communication impairments, key parts of the autism diagnosis. We present the first genetic analyses of IQ discrepancy (PIQ–VIQ) as an autism-related phenotype. We performed genome-wide joint linkage and segregation analyses on 287 multiplex families, using a Markov chain Monte Carlo approach. Genetic data included a genome-scan of 387 micro-satellite markers in 210 families augmented with additional markers added in a subset of families. Empirical P values were calculated for five interesting regions. Linkage analysis identified five chromosomal regions with substantial regional evidence of linkage; 10p12 [P = 0.001; genome-wide (gw) P = 0.05], 16q23 (P = 0.015; gw P = 0.53), 2p21 (P = 0.03, gw P = 0.78), 6q25 (P = 0.047, gw P = 0.91) and 15q23–25 (P = 0.053, gw P = 0.93). The location of the chromosome 10 linkage signal coincides with a region noted in a much earlier genome-scan for autism, and the chromosome 16 signal coincides exactly with a linkage signal for non-word repetition in specific language impairment. This study provides strong evidence for a QTL influencing IQ discrepancy in families with autistic individuals on chromosome 10, and suggestive evidence for a QTL on chromosome 16. The location of the chromosome 16 signal suggests a candidate gene, CDH13, a T-cadherin expressed in the brain, which has been implicated in previous SNP studies of autism and ADHD.
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影响因子：
11
作者：
通讯作者：
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影响因子：
5.3
作者：
Franke B;Neale BM;Faraone SV
通讯作者：
Faraone SV
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
DOI：
10.1002/ajmg.1497
发表时间：
2001-08-08
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Bradford, Y;Haines, J;Piven, J
通讯作者：
Piven, J
影响因子：
4.2
作者：
BUSHBY, KMD
通讯作者：
BUSHBY, KMD