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.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Epidemiology, Biostatistics and HTA (133), Radboud University Nijmegen Medical Centre, P.O. box 9101, 6500 HB, Nijmegen, The Netherlands. L.Wijers@ebh.umcn.nl
authors: Charlotte H W
authors: CH
authors: Wijers
authors: Ivo
authors: I
authors: de Blaauw
authors: Carlo L M
authors: CL
authors: Marcelis
authors: Rene M H
authors: RM
authors: Wijnen
authors: Han
authors: H
authors: Brunner
authors: Paola
authors: P
authors: Midrio
authors: Piergiorgio
authors: P
authors: Gamba
authors: Maurizio
authors: M
authors: Clementi
authors: Ekkehart
authors: E
authors: Jenetzky
authors: Nadine
authors: N
authors: Zwink
authors: Heiko
authors: H
authors: Reutter
authors: Enrika
authors: E
authors: Bartels
authors: Sabine
authors: S
authors: Grasshoff-Derr
authors: Stefan
authors: S
authors: Holland-Cunz
authors: Stuart
authors: S
authors: Hosie
authors: Stefanie
authors: S
authors: Märzheuser
authors: Eberhard
authors: E
authors: Schmiedeke
authors: Célia
authors: C
authors: Crétolle
authors: Sabine
authors: S
authors: Sarnacki
authors: Marc A
authors: MA
authors: Levitt
authors: Nine V A M
authors: NV
authors: Knoers
authors: Nel
authors: N
authors: Roeleveld
authors: Iris A L M
authors: IA
authors: van Rooij
mesh_terms: D001003:Anal Canal / Q000002:abnormalities*; D005060:Europe; D006801:Humans; D012007:Rectum / Q000002:abnormalities*; D012042:Registries; D012307:Risk Factors