2012
A TIR domain receptor–associated protein (TIRAP) variant SNP (rs8177374) confers protection against premature birth
Karody V, Le M, Nelson S, Meskin K, Klemm S, Simpson P, Hines R, Sampath V. A TIR domain receptor–associated protein (TIRAP) variant SNP (rs8177374) confers protection against premature birth. Journal Of Perinatology 2012, 33: 341-346. PMID: 23047423, DOI: 10.1038/jp.2012.120.Peer-Reviewed Original ResearchConceptsToll-like receptorsPreterm infantsTerm infantsSingle nucleotide polymorphismsExact testProspective case-control studyTLR single nucleotide polymorphismsPregnancy-induced hypertensionRisk of PTBNuclear factor kappa B1Case-control studyFischer's exact testChi-square testIRAK1 variantsMultiplexed single-base extension assayPlacental abruptionPremature birthNeonatal bloodVariant single nucleotide polymorphismsInfantsCaucasian infantsWeeksModulate susceptibilityAfrican AmericansBirth
2011
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 evidence