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AGORA,一个关于出生缺陷和儿童癌症的数据与生物样本库。

AGORA, a data- and biobank for birth defects and childhood cancer.

作者信息

van Rooij Iris A L M, van der Zanden Loes F M, Bongers Ernie M H F, Renkema Kirsten Y, Wijers Charlotte H W, Thonissen Michelle, Dokter Elisabeth M J, Marcelis Carlo L M, de Blaauw Ivo, Wijnen Marc H W A, Hoogerbrugge Peter M, Bokkerink Jos P M, Schreuder Michiel F, Koster-Kamphuis Linda, Cornelissen Elisabeth A M, Kapusta Livia, van Heijst Arno F J, Liem Kian D, de Gier Robert P E, Kuijpers-Jagtman Anne Marie, Admiraal Ronald J C, Bergé Stefaan J, van der Biezen Jan Jaap, Verdonck An, Vander Poorten Vincent, Hens Greet, Roosenboom Jasmien, Lilien Marc R, de Jong Tom P, Broens Paul, Wijnen Rene, Brooks Alice, Franke Barbara, Brunner Han G, Carels Carine E L, Knoers Nine V A M, Feitz Wout F J, Roeleveld Nel

机构信息

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

出版信息

Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):675-84. doi: 10.1002/bdra.23512. Epub 2016 May 6.

Abstract

BACKGROUND

Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection.

METHODS

Children diagnosed with and/or treated for a structural birth defect or childhood cancer and their parents are invited to participate in the AGORA data- and biobank. Controls are recruited through random sampling from municipal registries. The parents receive questionnaires about demographics, family and pregnancy history, health status, prescribed medication, lifestyle, and occupational exposures before and during the index pregnancy. In addition, blood or saliva is collected from children and parents, while medical records are reviewed for diagnostic information.

RESULTS

So far, we have collected data from over 6,860 families (3,747 birth defects, 905 childhood cancers, and 2,208 controls). The types of birth defects vary widely and comprise malformations of the digestive, respiratory, and urogenital tracts as well as facial, cardiovascular, kidney, skeletal, and central nervous system anomalies. The most frequently occurring childhood cancer types are acute lymphatic leukemia, Hodgkin and non-Hodgkin lymphoma, Wilms' tumor, and brain and spinal cord tumors. Our genetic and/or epidemiologic studies have been focused on hypospadias, anorectal malformations, congenital anomalies of the kidney and urinary tract (CAKUT), and orofacial clefts.

CONCLUSION

The large AGORA data- and biobank offers great opportunities for investigating genetic and nongenetic risk factors for disorders in children and is open to collaborative initiatives. Birth Defects Research (Part A) 106:675-684, 2016. © 2016 Wiley Periodicals, Inc.

摘要

背景

关于出生缺陷和儿童癌症病因的研究对于制定预防措施至关重要,但通常需要大量的研究人群。因此,我们在荷兰建立了AGORA数据和生物样本库。在本研究中,我们描述了其基本原理、设计和正在进行的数据收集情况。

方法

被诊断患有结构性出生缺陷和/或接受过儿童癌症治疗的儿童及其父母受邀参与AGORA数据和生物样本库。对照通过从市政登记处随机抽样招募。父母会收到关于人口统计学、家族和妊娠史、健康状况、处方药、生活方式以及孕期前后职业暴露的问卷。此外,还会采集儿童和父母的血液或唾液,并查阅医疗记录以获取诊断信息。

结果

到目前为止,我们已经从超过6860个家庭收集了数据(3747例出生缺陷、905例儿童癌症和2208例对照)。出生缺陷的类型差异很大,包括消化、呼吸和泌尿生殖道畸形以及面部、心血管、肾脏、骨骼和中枢神经系统异常。最常见的儿童癌症类型是急性淋巴细胞白血病、霍奇金淋巴瘤和非霍奇金淋巴瘤、肾母细胞瘤以及脑和脊髓肿瘤。我们的基因和/或流行病学研究主要集中在尿道下裂、肛门直肠畸形、先天性肾脏和尿路异常(CAKUT)以及口面部裂隙。

结论

大型AGORA数据和生物样本库为研究儿童疾病的遗传和非遗传风险因素提供了巨大机会,并对合作倡议开放。《出生缺陷研究(A部分)》106:675 - 684,2016年。© 2016威利期刊公司。

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