Search results for "genotype–sex interaction"

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Juvenile idiopathic arthritis subtype- and sex-specific associations with genetic variants in the PSMA6/PSMC6/PSMA3 gene cluster.

2014

BackgroundThe ubiquitin proteasome system plays an exceptional biological role in the antigen processing and immune response and it could potentially be involved in pathogenesis of many immunity-related diseases, including juvenile idiopathic arthritis (JIA).MethodsThe PSMB5 (rs11543947), PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827), and PSMA3 (rs2348071) proteasomal genes were genotyped on JIA subtype- and sex-specific association; plasma proteasome levels was measured in patients having risk and protective four-locus genotypes and eventual functional significance of allele substitutions was evaluated in silico.ResultsLoci rs11543947 and rs1048990 were identified as disease n…

MaleProteasome Endopeptidase ComplexGenotypeArthritisPSMA6PSMA3Polymorphism Single NucleotidePSMC6polymorphismPathogenesisGenotypeOdds RatioMedicineHumansgenotype–sex interactionplasma proteasomeGenetic Predisposition to DiseasePediatrics Perinatology and Child HealthAlleleChildbusiness.industrylcsh:RJ1-570PSMC6lcsh:PediatricsPSMA6medicine.diseaseArthritis JuvenilePSMB5PSMA3Multigene FamilyPediatrics Perinatology and Child HealthImmunologyjuvenile idiopathic arthritisFemalebusinessPediatrics and neonatology

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