Recurrence risk to offspring in extended multiplex schizophrenia pedigrees from a Pacific Island isolate.
Recurrence risk to offspring in extended multiplex schizophrenia pedigrees from a Pacific Island isolate.
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太平洋岛屿分离株的多重多重精神分裂症谱系的后代复发风险。
DOI：
10.1002/ajmg.b.30384
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
Faraone,StephenV
中科院分区：
文献类型：
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作者：
Myles-Worsley,Marina;Tiobech,Josepha;Blailes,Francisca;Yano,VictorM;Faraone,StephenV
遗传传递在精神分裂症的发病机制中起主要作用。家庭、双胞胎和收养研究一致表明，亲属中的风险比一般人群的风险高出许多倍。McGue，Gottesman，and Rao（1983; Am J Genet 35：1161-1178）基于西欧家庭的大数据集计算出精神分裂症患者的后代的风险估计值为12.8%，侄女/侄女的风险估计值为3.5%。本研究评估了帕劳的相应风险水平，帕劳是密克罗尼西亚的一个孤立人群，狭义（广义）精神分裂症的患病率为1.99%（2.67%），病例集中在扩展的家系中，其中20个家系包含80%的受影响个体。我们假设，这些大家族的后代患精神分裂症的风险高于来自遗传异质性更高的人群的较小精神分裂症家系的后代。RDC诊断数据的基础上，完全确定的情况下，他们的家庭，涵盖了过去两代人被用来量化的经验复发风险的后代和侄女/侄子的帕劳精神分裂症患者。一级和二级后代的风险大约是较小的西欧家庭的两倍：受影响父母的后代为23.4%，一个受影响的阿姨/叔叔的后代为6.4%，两个或更多受影响的阿姨/叔叔的后代为15.0%。受影响的父母的后代的复发率在男性（27.9%）比女性（17.7%）高1.6倍。我们在帕劳后代中发现的高风险水平反映了帕劳精神分裂症的高人群患病率、强家族聚集性和多系传播模式。© 2006 Wiley利斯公司
Genetic transmission plays a major role in the pathogenesis of schizophrenia. Family, twin, and adoption studies have consistently shown that risks in relatives are many times greater than the general population risk of ∼1%. McGue, Gottesman, and Rao (1983; Am J Hum Genet 35:1161–1178) calculated risk estimates of 12.8% for offspring and 3.5% for nieces/nephews of schizophrenia patients based on a large data set of Western European families. The present study evaluated corresponding risk levels in Palau, an isolated population in Micronesia where the prevalence of narrowly (broadly) defined schizophrenia is 1.99% (2.67%) and cases cluster in extended pedigrees, 20 of which contain 80% of affected individuals. We hypothesized that offspring in these extended families would have a higher risk for schizophrenia than offspring in smaller schizophrenia pedigrees from more genetically heterogeneous populations. RDC diagnostic data based on complete ascertainment of cases and their families covering the past two generations were used to quantify empirical recurrence risks in the offspring and nieces/nephews of Palauan schizophrenia patients. Risks to 1st‐ and 2nd‐degree offspring were approximately double the rates found in the smaller Western European families: 23.4% in the offspring of an affected parent, 6.4% in offspring with one affected aunt/uncle, and 15.0% in offspring with two or more affected aunts/uncles. Recurrence rates in offspring of an affected parent were 1.6 times higher in males (27.9%) than in females (17.7%). The high risk levels we found in Palauan offspring reflect the elevated population prevalence, strong familial aggregation, and multi‐lineal transmission pattern of schizophrenia in Palau. © 2006 Wiley‐Liss, Inc.