Identifying genetic and environmental risk factors for cleft using genome wide association study data

唇腭裂集体是一组来自英国各地的2500多个家庭的研究，他们受到唇腭裂的影响，其长期目标是开发有效的治疗方法，以降低唇腭裂的风险，并改善先天性唇腭裂患者的身体，功能和情感健康。自2012年这项研究成立以来，我们已经建立了世界上最大的唇腭裂儿童及其父母的生物样本库之一，此外，我们还获得了资金来生成这一队列的遗传数据。我们代表了一项在德国波恩收集和招募的1000多个家庭的裂缝研究，该研究有DNA样本，但目前没有资金进行基因分型。我们现在希望利用这些令人印象深刻的努力，通过寻求资金来生成波恩研究的遗传数据，然后分析这两项研究，以确定导致先天性唇裂儿童及其母亲之间唇裂的遗传变异。我们还将使用这些信息来确定非遗传（环境）因素，使用一种称为孟德尔随机化的分析技术导致裂缝。更好地了解这些原因对于帮助我们实现长期目标至关重要，也将为世界各地的其他研究人员提供宝贵的资源。这项工作的结果将直接关系到全球大规模的唇腭裂患者群体（大约每650名新生儿中就有1名），也关系到受颅面畸形和唇腭裂相关疾病影响的人群的需求，这些人群可能具有许多相同的风险因素。

The Cleft Collective is a set of studies of over 2500 families from across the UK who are affected by cleft lip/palate, whose long-term goals are to develop effective treatments to reduce the risk of cleft and to improve the physical, functional and emotional wellbeing of people born with a cleft. Since the study was established in 2012, we have built one of the world's largest banks of biological samples from children born with a cleft and their parents, in addition we have secured funding to generate genetic data on this cohort. We represent a cleft study of more than 1000 families collected and recruited in Bonn Germany which has DNA samples but does not currently have funding for genotyping. We are now hoping to take advantage of these impressive endeavours by seeking funding to generate genetic data on the Bonn study and then analyse both studies to identify genetic variants which cause cleft both among children born with a cleft and their mothers. We will also use this information to identify non-genetic (environmental) factors that cause clefts using an analytical technique called Mendelian randomization. An improved understanding of these causes will be vital in helping us to achieve our long-term goals, and it will also provide a valuable resource to other researchers from around the world. Findings from this work will be directly relevant to the large global community of people born with a cleft (approximately 1 in every 650 births), but also to the needs of people affected by craniofacial abnormalities and conditions related to cleft which may have many of the same risk factors.