Epidemiology underpinning research in the aetiology of orofacial clefts
Epidemiology underpinning research in the aetiology of orofacial clefts
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DOI：
10.1111/j.1601-6343.2007.00398.x
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发表时间：
2007-08-01
影响因子：
3.1
通讯作者：
Mossey, Peter
中科院分区：
文献类型：
--
作者：
Mossey, Peter
简介 - 通过出生缺陷监测收集的流行病学信息是进行临床和病因学研究的重要辅助手段。有关人群发病率的信息、致病风险因素以及在干预前提供基线数据都是重要因素。在世界卫生组织的支持下，一致同意应建立一个关于颅面异常的全球登记处和数据库，国际颅面异常数据库（ICDFA）旨在从世界各地现有的出生缺陷登记处和数据库中收集有关颅面异常的信息，成为支撑研究的资源。目前有 62 个登记处，每年覆盖 200 万新生儿，为数据库提供信息，包括用于收集信息的研究的规模和类型、确定的任何变化以及综合征和相关异常的包含情况。 假设的生成 - 根据收集的流行病学数据，可以进行荟萃分析并搜索数据中的趋势和一致性，从而使假设得以成立。 生成的。地理分布、种族、性别、相关异常和死产裂隙等问题都可以通过荟萃分析方法进行检查。收集有关孕产妇疾病、药物、生活方式因素、营养以及可能的职业暴露等危险因素的信息，可以调查环境对因果关系和遗传倾向的影响。目前正在使用一系列技术来识别新的候选基因，最终有必要在人群研究的背景下测试遗传和环境假设。 结论 - 只有通过具有不同基因库的不同人群与母亲暴露、生活方式、营养等之间关联的一致性，才能找到关于因果关系的决定性证据。因此，日期： 2007 年 4 月 3 日接受 世界卫生组织的一个主要目标是，建立国际多中心合作研究，以收集适当的证据并改进 引用这篇文章：一般出生缺陷和口颌面裂的知识和原因，特别是流行病学基础研究，世界卫生组织的最终人道主义和科学目标是口颌面裂的病因学一级预防。 影响 - 该 IDCFA 项目实现了颅面骨骼的三个基本目标：从遗传学到治疗，即实现 CFA 的全球监测；为那些希望为 IDCFA 做出贡献的人创建在线访问权限，并开发版权在线资源目录（D 2007 作者。颅面异常，以支持研究和提高护理质量。IPDTOC 的下一步是扩大参与登记的数量，并积极收集其他颅面出生缺陷的数据。
Introduction - Epidemiological information gathered through birth defects surveillance is an important adjunct to carrying out clinical and aetiological research. Information on the incidence in the population, causative risk factors and providing baseline data prior to intervention are all important elements. Under the auspices of the World Health Organisation, it was agreed that a global registry and database on craniofacial anomalies should be created and this, the International Database on Craniofacial Anomalies (ICDFA) was designed to gather information on craniofacial abnormalities from existing birth defects registries and databases around the world to become a resource underpinning research. There are currently 62 registries covering 2 million births per year contributing to a database along with information on the size and type of studies used to collect the information, any variation in ascertainment and on the inclusion of syndromes and associated abnormalities.Generation of hypotheses - From the epidemiological data collected it is possible to carry out meta-analysis and to search for trends and consistencies in the data that enable hypothesis to be generated. Issues such as geographical distribution, ethnicity, gender, associated abnormalities and clefts in stillbirths can all be examined in a meta-analytical approach. Collection of information on risk factors such as maternal illnesses, medications, lifestyle factors, nutrition and perhaps occupational exposures enables investigation into environmental contribution to causality and genetic predisposition. A range of techniques are currently being used to identify new candidate genes and ultimately it will be necessary to test genetic and environmental hypothesis in the context of human population studies.Conclusions - It is only by consistency of association between different populations with different gene pools and maternal exposures, lifestyles, nutrition etc that conclusive evidence regarding causality will be found. It is therefore Dates: Accepted 3 April 2007 essential, and a major objective of the WHO that international multicentre collaborative studies are setup to gather the appropriate evidence and improve To cite this article: knowledge and the cause of birth defects in general and orofacial clefts in Epidemiology underpinning research in the particular, with the ultimate humanitarian and scientific objective of the WHO being aetiology of orofacial clefts primary prevention.Clinical utility and implications - This IDCFA project fulfills three basic objectives Craniofacial Skeleton: From Genetics to Therapies namely to enable global surveillance of CFA; to create online access to those who wish to contribute to the IDCFA, and to develop an online directory of resources on Copyright (D 2007 The Author. craniofacial anomalies for the support of research and improving quality of care. The next steps for IPDTOC are to expand the number of participating registries and to actively collect data on other craniofacial birth defects.