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Open Access 01-11-2010 | Original Article

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

Authors: Charlotte H. W. Wijers, Ivo de Blaauw, Carlo L. M. Marcelis, Rene M. H. Wijnen, Han Brunner, Paola Midrio, Piergiorgio Gamba, Maurizio Clementi, Ekkehart Jenetzky, Nadine Zwink, Heiko Reutter, Enrika Bartels, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Stuart Hosie, Stefanie Märzheuser, Eberhard Schmiedeke, Célia Crétolle, Sabine Sarnacki, Marc A. Levitt, Nine V. A. M. Knoers, Nel Roeleveld, Iris A. L. M. van Rooij

Published in: Pediatric Surgery International | Issue 11/2010

Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusion

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.

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Title: 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
Authors: Charlotte H. W. Wijers
Ivo de Blaauw
Carlo L. M. Marcelis
Rene M. H. Wijnen
Han Brunner
Paola Midrio
Piergiorgio Gamba
Maurizio Clementi
Ekkehart Jenetzky
Nadine Zwink
Heiko Reutter
Enrika Bartels
Sabine Grasshoff-Derr
Stefan Holland-Cunz
Stuart Hosie
Stefanie Märzheuser
Eberhard Schmiedeke
Célia Crétolle
Sabine Sarnacki
Marc A. Levitt
Nine V. A. M. Knoers
Nel Roeleveld
Iris A. L. M. van Rooij
Publication date: 01-11-2010
Publisher: Springer-Verlag
Published in: Pediatric Surgery International / Issue 11/2010
Print ISSN: 0179-0358
Electronic ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-010-2688-0

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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

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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