TY - JOUR
T1 - Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations
T2 - Evidence for risk factors across different populations
AU - Wijers, Charlotte H.W.
AU - De Blaauw, Ivo
AU - Marcelis, Carlo L.M.
AU - Wijnen, Rene M.H.
AU - Brunner, Han
AU - Midrio, Paola
AU - Gamba, Piergiorgio
AU - Clementi, Maurizio
AU - Jenetzky, Ekkehart
AU - Zwink, Nadine
AU - Reutter, Heiko
AU - Bartels, Enrika
AU - Grasshoff-Derr, Sabine
AU - Holland-Cunz, Stefan
AU - Hosie, Stuart
AU - Märzheuser, Stefanie
AU - Schmiedeke, Eberhard
AU - Crétolle, Célia
AU - Sarnacki, Sabine
AU - Levitt, Marc A.
AU - Knoers, Nine V.A.M.
AU - Roeleveld, Nel
AU - Van Rooij, Iris A.L.M.
N1 - Funding Information:
The authors thank the patients and their parents for their participation in the study. The authors are grateful to the staff of the Departments of Pediatric Surgery and Otorhinolaryngology of the Radboud University Nijmegen Medical Centre. The authors also thank the German support group for people with congenital anorectal malformations (SoMA e.V.) for their kind support in contacting patients and Peter Reifferscheid for design of the German patient questionnaire and his critical comments on the evaluation of clinical data. The authors are also grateful to Dalia Aminoff, President of the Italian Association of Anorectal Malformation (AIMAR). CW is supported by a grant from the Radboud University Nijmegen Medical Centre. EJ, NZ, HR, EB, SG-D, SH-C, SH, SM, and ES are members of the “Network for Systematic Investigation of the Molecular Causes, Clinical Implications and Psychosocial Outcome of Congenital Uro-Rectal Malformations (CURE-Net)” supported by a research grant (01GM08107) from the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung, BMBF): http://www.cure-net.de .
PY - 2010/11
Y1 - 2010/11
N2 - 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.
AB - 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.
KW - Anorectal malformation
KW - Birth defects
KW - Children
KW - Environmental factors
KW - Etiology
KW - Genetics
UR - http://www.scopus.com/inward/record.url?scp=78449276204&partnerID=8YFLogxK
U2 - 10.1007/s00383-010-2688-0
DO - 10.1007/s00383-010-2688-0
M3 - Article
C2 - 20730541
AN - SCOPUS:78449276204
SN - 0179-0358
VL - 26
SP - 1093
EP - 1099
JO - Pediatric Surgery International
JF - Pediatric Surgery International
IS - 11
ER -