The familial risk of autism.
The familial risk of autism.
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DOI：
10.1001/jama.2014.4144
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发表时间：
2014-05-07
影响因子：
120.7
通讯作者：
Reichenberg, Abraham
中科院分区：
文献类型：
--
作者：
Sandin, Sven;Lichtenstein, Paul;Kuja-Halkola, Ralf;Larsson, Henrik;Hultman, Christina M.;Reichenberg, Abraham
自闭症谱系障碍（ASD）在家庭中聚集，但个体风险以及遗传因素或共享或非共享环境在多大程度上引起的风险仍未得到解决。估计ASD的家族聚集性。一个基于人口的队列，包括1982-2007年出生的所有瑞典儿童。我们确定了截至2009年12月31日的所有双胞胎、全同胞兄弟姐妹、母亲和父亲的同父异母兄弟姐妹和堂兄弟姐妹以及所有ASD诊断。相对复发风险（RR）衡量疾病的家族聚集性。RR是一个兄弟姐妹或堂兄弟姐妹被诊断为自闭症的参与者与没有患病家庭成员的参与者相比的相对风险。我们计算了ASD和自闭症障碍（AD）的RR。我们估计了ASD的发生概率与遗传（加性和显性）和环境（共享和非共享）因素有关。在2，049，899名儿童的样本中，14，516人获得了ASD诊断，其中5，689人为AD。ASD RR估计为153.0（95%CI 56.7-412.8; 27 vs 6，273/100，000人-年），单卵双胞胎，8.2（95%CI 3.7-18.1; 55 vs 805/100，000人-年），双卵双胞胎，10.3（95%CI 9.4-11.2; 49 vs 829/100，000人-年），全同胞，3.3（95%CI 2.6-4.2; 94 vs 492/100，000人-年）对于母亲同父异母兄弟姐妹，2.9（95%CI：2.2-3.7; 85 vs 371/100，000人-年），堂兄弟姐妹为2.0（95%CI：1.8-2.2; 49 vs 155/100，000人-年）。AD的RR模式相似，但幅度略高。我们发现支持的疾病病因，包括只有加性遗传和非共享的环境影响。ASD遗传率估计为0.50（95%CI 0.44-0.55），AD遗传率估计为0.54（95%CI 0.44-0.64）。在瑞典出生的儿童中，ASD和AD的遗传率估计约为50%。对于一个人来说，如果一个完整的兄弟姐妹有自闭症的诊断，患自闭症的风险增加10倍，如果一个表亲有自闭症的诊断，患自闭症的风险增加约2倍。这些发现可能会告知受影响儿童的咨询家庭。
Autism Spectrum Disorders (ASD) aggregates in families, but the individual risk and to what extent this is caused by genetic factors, or shared or non-shared environment remains unresolved. To provide estimates of familial aggregation of ASD. A population based cohort of all Swedish children born 1982–2007. We identified all twins, full siblings, maternal and paternal half siblings and cousin pairs and all diagnosis of ASD to 31-December-2009. The relative recurrence risk (RR) measure familial aggregation of disease. The RR is the relative risk of autism in an participant given a sibling or cousin has the diagnosis, compared with the risk in a participant with no diseased family member. We calculated RR for both ASD and Autistic Disorder (AD). We estimated how much of the probability of developing ASD can be related to genetic (additive and dominance) and environmental (shared and non-shared) factors. In the sample of 2,049,899 children, 14,516 obtained an ASD diagnosis of which 5,689 were AD. The ASD RR was estimated to 153.0 (95%CI 56.7–412.8; 27 vs 6,273 per 100,000 person-years) for monozygotic twins, 8.2 (95%CI 3.7–18.1; 55 vs 805 per 100,000 person-years) for dizygotic twins, 10.3 (95%CI 9.4–11.2; 49 vs 829 per 100,000 person-years) for full-siblings, 3.3 (95%CI 2.6–4.2; 94 vs 492 per 100,000 person-years) for maternal half siblings, 2.9 (95%CI: 2.2–3.7; 85 vs 371 per 100,000 person-years) for paternal half siblings, and 2.0 (95%CI: 1.8–2.2; 49 vs 155 per 100,000 person-years) for cousins. The RR pattern was similar for AD but of slightly higher magnitude. We found support for a disease etiology including only additive genetic and non-shared environmental effects. The ASD heritability was estimated to 0.50 (95%CI 0.44–0.55) and the AD heritability was estimated to 0.54 (95%CI 0.44–0.64). Among children born in Sweden, heritability of ASD and AD were estimated to be approximately 50%. For an individual, the risk of autism is increased 10 fold if a full sibling has the diagnosis and about 2 fold if a cousin has the diagnosis. These findings may inform counseling families with affected children.
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影响因子：
6.9
作者：
Lichtenstein, Paul;Bjork, Camilla;Sullivan, Patrick F.
通讯作者：
Sullivan, Patrick F.
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
作者：
Boker S;Neale M;Maes H;Wilde M;Spiegel M;Brick T;Spies J;Estabrook R;Kenny S;Bates T;Mehta P;Fox J
通讯作者：
Fox J
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
影响因子：
11
作者：
Ronald, A.;Larsson, H.;Lichtenstein, P.
通讯作者：
Lichtenstein, P.