The familial aggregation of the lesser variant in biological and nonbiological relatives of PDD probands: a family history study
The familial aggregation of the lesser variant in biological and nonbiological relatives of PDD probands: a family history study
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DOI：
10.1017/s0021963099005831
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发表时间：
2000-07-01
影响因子：
7.6
通讯作者：
Tuff, L
中科院分区：
文献类型：
--
作者：
Szatmari, P;MacLean, JE;Tuff, L
Objective.使用筛查问卷确定PDD先证者的生物学和非生物学二级和三级亲属中较小变异（或PDD样性状）的风险，并根据先证者的各种特征调查较小变异风险的差异程度。方法：样本包括一系列的34个核心家庭与2个受影响的PDD儿童（多重，MPX），44个家庭与一个单一的PDD儿童（单纯，SPX），和14个家庭谁采用了PDD儿童。在1362个生物和337个非生物的第二和第三级亲属的较小的变异的特点的数据收集父母通过电话采访和从几个母亲和父亲的亲属通过问卷调查。结果如下：较小变异的所有组分在生物亲属（BR）中比非生物亲属（NBR）更常见，证实了性状的家族聚集性。与亲属中较小变异风险增加相关的先证者特征是较高水平的功能和来自MPX家族。结论：这些关于较小变异的家族聚集性的发现表明，PDD的基因也赋予较小变异的易感性，并且PDD可能是一种遗传异质性疾病。
Objective. To determine the risk of the lesser variant (or PDD-like traits) in the biological and nonbiological second- and third-degree relatives of PDD probands using a screening questionnaire and to investigate the extent to which the risk of the lesser variant differs according to various characteristics of the proband. Method: The sample consists of a series of 34 nuclear families with 2 affected PDD children (multiplex, MPX), 44 families with a single PDD child (simplex, SPX), and 14 families who adopted a PDD child. Data on characteristics of the lesser variant in 1362 biological and 337 nonbiological second- and third-degree relatives were collected from parents by telephone interview and from several maternal and paternal relatives by questionnaire. Results: All components of the lesser variant were more common in biological relatives (BR) than nonbiological relatives (NBR), confirming the familial aggregation of the traits. Proband characteristics associated with an increased risk of the lesser variant in relatives were a higher level of functioning and coming from a MPX family. Conclusions: These findings on the familial aggregation of the lesser variant suggest that the genes for PDD also confer susceptibility to the lesser variant and that PDD may be a genetically heterogeneous disorder.