Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability.
Jiun-Sheng Chen, Fulan Hu, Subra Kugathasan, Lynn B Jorde, David Nix, Ann Rutherford, Lee Denson, W Scott Watkins, Sampath Prahalad, Chad Huff and 1 more
Article in G3 (Bethesda, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
11 authors.
Jiun-Sheng ChenDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX.ORCID 0000-0002-0708-6498
Fulan HuDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX.
Subra KugathasanDepartment of Pediatrics, Emory University School of Medicine, Atlanta, GA.
Lynn B JordeDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT.
David NixDepartment of Population Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT.
Ann RutherfordDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT.
Lee DensonDepartment of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
W Scott WatkinsDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT.
Sampath PrahaladDepartment of Pediatrics, Emory University School of Medicine, Atlanta, GA.
Chad HuffDepartment of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX CHuff1@mdanderson.org Stephen.Guthery@hsc.utah.edu.
Stephen L GutheryDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT CHuff1@mdanderson.org Stephen.Guthery@hsc.utah.edu.ORCID 0000-0003-1484-301X
Funding
Stem Cell/Organoid and Genome Editing CoreP30DK078392 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Alexander Miethke · 2007 to 2026
$24.4M
University of Utah Center for Clinical and Translational ScienceUL1TR001067 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$19.8M
Human Genetic Variation and DiseaseR35GM118335 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JORDE, LYNN · 2016 to 2025
$5.1M
VAAST+: Tool for variant prioritization, risk assessment and disease-gene findingR01GM104390 · NIGMS · UNIVERSITY OF UTAH · PI JORDE, LYNN, YANDELL, MARK DOUGLAS · 2013 to 2017
$2.2M
Rare disease susceptibility alleles in children with Crohn diseaseR01DK091374 · NIDDK · UNIVERSITY OF UTAH · PI GUTHERY, STEPHEN L · 2011 to 2014
Crohn's disease is a complex genetic trait characterized by chronic relapsing intestinal inflammation. Genome wide association studies (GWAS) have identified more than 170 loci associated with the disease, accounting for ∼14% of the disease variance. We hypothesized that rare genetic variation in GWAS positional candidates also contribute to disease pathogenesis. We performed targeted, massively-parallel sequencing of 101 genes in 205 children with Crohn's disease, including 179 parent-child trios and 200 controls, both of European ancestry. We used the gene burden test implemented in VAAST and estimated effect sizes using logistic regression and meta-analyses. We identified three genes with nominally significant p-values:
Indexed as
Genetic VariationGenome-Wide Association StudyAdolescentAdultChildChild, PreschoolCrohn DiseaseFemaleHeterozygoteHumansInfantIntracellular Signaling Peptides and ProteinsMaleN-AcetylglucosaminyltransferasesNod2 Signaling Adaptor Proteinbeta-1,4-mannosyl-glycoprotein beta-1,4-N-acetylglucosaminyltransferaseIntracellular Signaling Peptides and ProteinsN-AcetylglucosaminyltransferasesNOD2 protein, humanNod2 Signaling Adaptor ProteinRTKN2 protein, humancase-control studyCrohn’s diseasede novo mutationNOD2rare variant
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