Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1.

doi:10.1093/g3journal/jkag193

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Article

Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1.

G3 (Bethesda, Md.) - 2 Sept 2026

Avery Cecile N, Hernandez Edgar J, Kazuko Sandy G, Bohnsack John F, Sudman Marc, Prahalad Sampath, Radmall Kaitlin, Hersh Aimee O, Letsou Anthea, Jorde Lynn B

Abstract excerpt

Juvenile idiopathic arthritis is a complex rheumatic disease that is influenced by environmental and genetic factors. Linkage and genome-wide association studies have identified genes that contribute to the risk of developing juvenile idiopathic arthritis but are limited in their ability to identify disease-risk variants of large effect. Penetrant, heritable risk variants can be detected in high-risk families,...

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Topics

Arthritis, Juvenile
Whole Genome Sequencing
Nod2 Signaling Adaptor Protein
Activin Receptors, Type I
Humans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Female

Child, Preschool

Pedigree

Animals

Drosophila

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 42466628
DOI: 10.1093/g3journal/jkag193
PMCID: PMC13535375

Genes

ACVR1
NOD2
OGT
SMAD6

Provenance

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