Genetic heritability and shared environmental factors among twin pairs with autism.
Genetic heritability and shared environmental factors among twin pairs with autism.
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DOI：
10.1001/archgenpsychiatry.2011.76
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发表时间：
2011-11
影响因子：
--
通讯作者：
Risch, Neil
中科院分区：
文献类型：
--
作者：
Hallmayer, Joachim;Cleveland, Sue;Torres, Andrea;Phillips, Jennifer;Cohen, Brianne;Torigoe, Tiffany;Miller, Janet;Fedele, Angie;Collins, Jack;Smith, Karen;Lotspeich, Linda;Croen, Lisa A.;Ozonoff, Sally;Lajonchere, Clara;Grether, Judith K.;Risch, Neil
自闭症被认为是最易遗传的神经发育障碍，主要是因为同卵双胞胎和异卵双胞胎之间的符合率存在很大差异。对自闭症的遗传遗传力和共享环境的影响提供严格的定量估计。加州发展服务部确认了一对双胞胎，其中至少有一对出生在1987至2004年间，患有自闭症谱系障碍(ASD)。对192对双胞胎进行了结构化诊断评估(自闭症诊断访谈-修订版和自闭症诊断观察表)。计算符合率，并对2个定义进行参数模型拟合，1个窄(严格的自闭症)和1个宽(自闭症)。对于严格的自闭症，40对纯合子男性双胞胎的概率一致性为0.58(95%可信区间0.42~0.74)，31对双卵双生子的概率一致性为0.21(95%可信区间0.09~0.43)，7对女性双生子的概率一致性为0.60(95%可信区间0.28~0.90)，10对双合子的概率一致性为0.27(95%可信区间0.09~0.69)。对于ASD，男性双生子的概率一致性为0.77(95%CI，0.65~0.86)，45对双卵双生子的概率一致性为0.31(95%CI，0.16~0.46)，女性双生子的一致性为0.50(95%CI，0.16~0.84)和0.36(95%CI，0.11~0.60)。除了中等的遗传遗传性(37%；95%CI，84%-84%和38%；95%CI，14%-67%)外，很大一部分风险差异可以由共同的环境因素(55%；95%CI，自闭症9%-81%和58%；95%CI，ASD 30%-80%)解释。ASD的易感性具有中等的遗传遗传力和基本相同的双胞胎环境成分。
Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between monozygotic and dizygotic twins. To provide rigorous quantitative estimates of genetic heritability of autism and the effects of shared environment. Twin pairs with at least 1 twin with an autism spectrum disorder (ASD) born between 1987 and 2004were identified through the California Department of Developmental Services. Structured diagnostic assessments (Autism Diagnostic Interview–Revised and Autism Diagnostic Observation Schedule) were completed on 192 twin pairs. Concordance rates were calculated and parametric models were fitted for 2 definitions, 1 narrow (strict autism) and 1 broad (ASD). For strict autism, probandwise concordance for male twins was 0.58 for 40 monozygotic pairs (95% confidence interval [CI], 0.42–0.74) and 0.21 for 31 dizygotic pairs (95% CI, 0.09–0.43); for female twins, the concordance was 0.60 for 7 monozygotic pairs (95% CI, 0.28–0.90) and 0.27 for 10 dizygotic pairs (95% CI, 0.09–0.69). For ASD, the probandwise concordance for male twins was 0.77 for 45 monozygotic pairs (95% CI, 0.65–0.86) and 0.31 for 45 dizygotic pairs (95% CI, 0.16–0.46); for female twins, the concordance was 0.50 for 9 monozygotic pairs (95% CI, 0.16–0.84) and 0.36 for 13 dizygotic pairs (95% CI, 0.11–0.60). A large proportion of the variance in liability can be explained by shared environmental factors (55%; 95% CI, 9%–81% for autism and 58%; 95% CI, 30%–80% for ASD) in addition to moderate genetic heritability (37%; 95% CI, 8%–84% for autism and 38%; 95% CI, 14%–67% for ASD). Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.
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DOI：
10.1176/appi.ajp.2010.09101470
发表时间：
2010-11
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Constantino JN;Zhang Y;Frazier T;Abbacchi AM;Law P
通讯作者：
Law P
影响因子：
3.9
作者：
Singh, Jennifer;Illes, Judy;Hallmayer, Joachim
通讯作者：
Hallmayer, Joachim
自闭症诊断观察表： 提高诊断有效性的修订算法
影响因子：
3.9
作者：
Gotham, Katherine;Risi, Susan;Lord, Catherine
通讯作者：
Lord, Catherine
影响因子：
6.6
作者：
MCGUE, M
通讯作者：
MCGUE, M
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M