A TLR5 (g.1174C > T) variant that encodes a stop codon (R392X) is associated with bronchopulmonary dysplasia
Sampath V, Garland J, Le M, Patel A, Konduri G, Cohen J, Simpson P, Hines R. A TLR5 (g.1174C > T) variant that encodes a stop codon (R392X) is associated with bronchopulmonary dysplasia. Pediatric Pulmonology 2011, 47: 460-468. PMID: 22058078, DOI: 10.1002/ppul.21568.Peer-Reviewed Original ResearchMeSH KeywordsBronchopulmonary DysplasiaCodon, TerminatorCohort StudiesFemaleGenetic Predisposition to DiseaseGenetic VariationHeterozygoteHumansIncidenceInfant, NewbornInfant, PrematureInfant, Very Low Birth WeightInterleukin-1 Receptor-Associated KinasesMalePilot ProjectsPolymorphism, Single NucleotideProspective StudiesSeverity of Illness IndexToll-Like Receptor 5ConceptsSevere BPDExact testLow birth weight infantsVariant allelesToll-like receptor (TLR) familyBronchopulmonary dysplasia susceptibilityBirth weight infantsPathway single nucleotide polymorphismsTLR pathway genesMulti-center studyFisher's exact testSusceptibility/severityBPD outcomesEpidemiological confoundersBronchopulmonary dysplasiaMultiplexed single-base extension assayPreterm infantsBPD pathogenesisPremature infantsPulmonary homeostasisLower incidencePathogen recognitionBlood samplesClinical informationCurrent evidenceThe NFKB1 (g.-24519delATTG) Variant is Associated with Necrotizing Enterocolitis (NEC) in Premature Infants
Sampath V, Le M, Lane L, Patel A, Cohen J, Simpson P, Garland J, Hines R. The NFKB1 (g.-24519delATTG) Variant is Associated with Necrotizing Enterocolitis (NEC) in Premature Infants. Journal Of Surgical Research 2011, 169: e51-e57. PMID: 21529841, DOI: 10.1016/j.jss.2011.03.017.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCohort StudiesEnterocolitis, NecrotizingFemaleGenetic Predisposition to DiseaseHumansIncidenceInfant, NewbornInfant, PrematureInfant, Very Low Birth WeightMaleNF-kappa B p50 SubunitPilot ProjectsPolymorphism, Single NucleotideProspective StudiesRetrospective StudiesSignal TransductionToll-Like ReceptorsConceptsNecrotizing enterocolitisImmune responseBlood samplesSingle nucleotide polymorphismsExact testToll-like receptor pathway genesLow birth weight infantsNFKB1 variantsBirth weight infantsIntestinal immune responseTLR pathway genesFisher's exact testInnate immune responseEnterocolitis (NEC) pathogenesisNEC pathogenesisNEC susceptibilityVLBW infantsWeight infantsCohort studyPreterm infantsPremature infantsTIRAP geneClinical informationGene-environment interactionsInfants