Characterizing runs of homozygosity and their impact on risk for psychosis in a population isolate.
Characterizing runs of homozygosity and their impact on risk for psychosis in a population isolate.
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表征纯合性运行及其对人群隔离中精神病风险的影响。
DOI：
10.1002/ajmg.b.32255
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发表时间：
2014
期刊：
影响因子：
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通讯作者：
Devlin,Bernie
中科院分区：
文献类型：
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作者：
Melhem,NadineM;Lu,Cong;Dresbold,Cara;Middleton,FrankA;Klei,Lambertus;Wood,Shawn;Faraone,StephenV;Vinogradov,Sophia;Tiobech,Josepha;Yano,Victor;Roeder,Kathryn;Byerley,William;Myles-Worsley,Marina;Devlin,Bernie
纯合性（ROH）的增加与各种疾病的风险有关，包括精神分裂症。在这里，我们调查的特点，ROH在帕劳，一个大洋洲的人口，评估这些特点是否与精神疾病的风险和这种关联的性质。为了实现这些目标，我们评估了203例精神分裂症和相关精神障碍的样本，代表几乎完全确定受影响的个人在人口中，并将其ROH的125个主题选择作为对照。虽然被诊断患有精神障碍的帕劳人倾向于比对照组具有略多的ROH区域，但区别特征是他们具有更长的ROH区域，更大的ROH总长度，并且他们的ROH倾向于更经常地在同一位点共同出现。样本的性质使我们能够调查是否罕见的，高度外显的隐性变异产生ROH的病例对照差异。在帕劳，无论是罕见的、高度外显的隐性变异，还是个体的、影响大的常见变异，都不占精神病风险的很大比例。这些结果表明，需要一个更微妙的风险模型来解释这一人群的ROH模式。© 2014 Wiley Periodicals，Inc.
An increased abundance of runs of homozygosity (ROH) has been associated with risk for various diseases, including schizophrenia. Here we investigate the characteristics of ROH in Palau, an Oceanic population, evaluating whether these characteristics are related to risk for psychotic disorders and the nature of this association. To accomplish these aims we evaluate a sample of 203 cases with schizophrenia and related psychotic disorders—representing almost complete ascertainment of affected individuals in the population—and contrast their ROH to that of 125 subjects chosen to function as controls. While Palauan diagnosed with psychotic disorders tend to have slightly more ROH regions than controls, the distinguishing features are that they have longer ROH regions, greater total length of ROH, and their ROH tends to co‐occur more often at the same locus. The nature of the sample allows us to investigate whether rare, highly penetrant recessive variants generate such case–control differences in ROH. Neither rare, highly penetrant recessive variants nor individual common variants of large effect account for a substantial proportion of risk for psychosis in Palau. These results suggest a more nuanced model for risk is required to explain patterns of ROH for this population. © 2014 Wiley Periodicals, Inc.