Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18 to 4.41; p = 0.0027-0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89 to 37.3; p = 0.0058-0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752980 | PMC |
| http://dx.doi.org/10.5808/gi.21046 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Renal tubular dysgenesis due to variants in the gene encoding ACE in a child surviving the neonatal period.
BMJ Case Rep
September 2025
Guy's and St Thomas' Hospitals NHS Trust, London, England, UK.
Autosomal recessive renal tubular dysgenesis (RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system, with the most common outcomes being foetal or neonatal death from renal failure, pulmonary hypoplasia and/or refractory arterial hypotension. A small proportion of patients survive past the neonatal period. We present the case of a toddler with RTD due to compound heterozygous variants in the gene that codes for ACE, who has not required renal replacement therapy to date and in whom fludrocortisone has achieved electrolyte and acid/base balance.
View Article and Find Full Text PDFTelomere biology disorder associated lung disease- case report of a gene variant as the cause of pleuroparenchymal fibroelastosis.
Chron Respir Dis
September 2025
Department of Pulmonology, II.Medical Clinic and Polyclinic, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Case presentationDescription of a patient with a progressive destructive lung disease resembling pleuroparenchymal fibroelastosis, liver cirrhosis and bone marrow changes. Genetic workup identified a rare heterozygous coding variant in the (telomerase reverse transcriptase) gene c.472 C>T; p.
View Article and Find Full Text PDFWhole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.
Genome Biol
September 2025
Center for Genomic Medicine, Cardiovascular Research Center, , Massachusetts General Hospital Simches Research Center, 185 Cambridge Street, CPZN 5.238,, Boston, MA, 02114, USA.
Background: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.
View Article and Find Full Text PDFAvailability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.
Am J Hum Genet
September 2025
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address:
Multiplex assays of variant effect (MAVEs) provide promising new sources of functional evidence, potentially empowering improved classification of germline genomic variants, particularly rare missense variants, which are commonly assigned as variants of uncertain significance (VUSs). However, paradoxically, quantification of clinically applicable evidence strengths for MAVEs requires construction of "truthsets" comprising missense variants already robustly classified as pathogenic and benign. In this study, we demonstrate how benign truthset size is the primary driver of applicable functional evidence toward pathogenicity (PS3).
View Article and Find Full Text PDFFirst pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.
Mol Biol Rep
September 2025
Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.