Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.
复制标题
DOI：
10.1007/s00383-010-2688-0
复制
发表时间：
2010-11
影响因子：
1.8
通讯作者：
van Rooij IA
中科院分区：
文献类型：
--
作者：
Wijers CH;de Blaauw I;Marcelis CL;Wijnen RM;Brunner H;Midrio P;Gamba P;Clementi M;Jenetzky E;Zwink N;Reutter H;Bartels E;Grasshoff-Derr S;Holland-Cunz S;Hosie S;Märzheuser S;Schmiedeke E;Crétolle C;Sarnacki S;Levitt MA;Knoers NV;Roeleveld N;van Rooij IA
最近成立的国际肛门直肠畸形联盟旨在通过数据共享和联合研究活动促进合作，确定综合征型和非综合征型肛门直肠畸形（ARM）病因学中的遗传和环境风险因素。该联合会试图招募至少1，000个ARM病例。从病例-父母三联体中收集DNA样本，以确定与ARM相关的遗传因素。将应用几种遗传技术，包括SNP阵列、基因和全外显子组测序以及全基因组关联研究。将使用询问怀孕前和怀孕期间情况的调查表来获得环境危险因素数据。目前，在整个欧洲招募了701例ARM病例。所有病例都有临床数据，DNA样本和问卷调查数据主要来自荷兰和德国病例。对荷兰和德国队列中环境风险因素的初步分析发现，ARM与ARM家族史、妊娠前三个月发热以及母亲工作暴露于清洁剂和溶剂之间存在关联。第一个结果表明，遗传和环境因素可能有助于ARM. The国际肛门直肠畸形联盟的多因素病因将提供可能性，研究和检测重要的基因和环境风险因素的ARM，最终导致更好的遗传咨询，改进的治疗方法，和一级预防。
The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. The consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case–parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study. Questionnaires inquiring about circumstances before and during pregnancy will be used to obtain environmental risk factor data. Currently, 701 ARM cases have been recruited throughout Europe. Clinical data are available from all cases, and DNA samples and questionnaire data mainly from the Dutch and German cases. Preliminary analyses on environmental risk factors in the Dutch and German cohort found associations between ARM and family history of ARM, fever during first trimester of pregnancy and maternal job exposure to cleaning agents and solvents. First results show that both genetic and environmental factors may contribute to the multifactorial etiology of ARM. The International Consortium on Anorectal Malformations will provide possibilities to study and detect important genes and environmental risk factors for ARM, ultimately resulting in better genetic counseling, improved therapies, and primary prevention.
登录
查看更多内容
影响因子：
2.4
作者：
Falcone, Richard A., Jr.;Levitt, Marc A.;Bates, Michael
通讯作者：
Bates, Michael
DOI：
10.1002/bdra.20620
发表时间：
2010-01-01
影响因子：
--
作者：
Blomberg, Marie I.;Kallen, Bengt
通讯作者：
Kallen, Bengt
DOI：
10.1007/bf01900599
发表时间：
1995-12-01
期刊：
JAPANESE JOURNAL OF HUMAN GENETICS
影响因子：
--
作者：
Yuan, P;Okazaki, I;Kuroki, Y
通讯作者：
Kuroki, Y
影响因子：
1.8
作者：
Jenetzky, Ekkehart
通讯作者：
Jenetzky, Ekkehart
影响因子：
2.4
作者：
Hashish, Mohamed S.;Dawoud, Hamada H.;Teitelbaum, Daniel H.
通讯作者：
Teitelbaum, Daniel H.