Home > Publications database > Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. > print

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037 _ _ |a DKFZ-2019-01443
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082 _ _ |a 610
100 1 _ |a van de Putte, Romy
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245 _ _ |a Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
260 _ _ |a San Francisco, California, US
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520 _ _ |a Anorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.We analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina HumanExome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-based analyses were performed to identify statistically significant associations, applying Bonferroni correction. Following an extra quality control step, candidate variants were selected for validation using Sanger sequencing.When we applied a MAF of ≥1.0%, no variants or genes showed statistically significant associations with ARM. Using a MAF cut-off at 0.4%, 13 variants initially reached statistical significance, but had to be discarded upon further inspection: ten variants represented calling errors of the software, while the minor alleles of the remaining three variants were not confirmed by Sanger sequencing.Our results show that rare and low-frequency coding variants with large effect sizes, present on the exome chip do not contribute to ARM etiology.
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700 1 _ |a Wijers, Charlotte H W
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700 1 _ |a Reutter, Heiko
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700 1 _ |a Vermeulen, Sita H
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700 1 _ |a Marcelis, Carlo L M
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700 1 _ |a Brosens, Erwin
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700 1 _ |a Broens, Paul M A
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700 1 _ |a Homberg, Markus
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700 1 _ |a Ludwig, Michael
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700 1 _ |a Jenetzky, Ekkehart
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700 1 _ |a Zwink, Nadine
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700 1 _ |a Sloots, Cornelius E J
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700 1 _ |a de Klein, Annelies
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700 1 _ |a Brooks, Alice S
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700 1 _ |a Hofstra, Robert M W
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700 1 _ |a Holsink, Sophie A C
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700 1 _ |a van der Zanden, Loes F M
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700 1 _ |a Galesloot, Tessel E
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700 1 _ |a Tam, Paul Kwong-Hang
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700 1 _ |a Steehouwer, Marloes
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700 1 _ |a Acuna-Hidalgo, Rocio
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700 1 _ |a Vorst, Maartje van de
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700 1 _ |a Kiemeney, Lambertus A
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700 1 _ |a Garcia-Barceló, Maria-Mercè
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700 1 _ |a de Blaauw, Ivo
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700 1 _ |a Brunner, Han G
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700 1 _ |a Roeleveld, Nel
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700 1 _ |a van Rooij, Iris A L M
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