Experimental Dermatology · 2020 · 15 citations · 37 references
MedicineGeneticsPharmacologyGenomicsPharmacogeneticsPharmacogenomicsGenome-wide Association StudiesGenomic PredictionGenotype-phenotype Association AnalysisPharmacogenomic BiomarkersPharmacogenomic TestingPsoriatic ArthritisBiomarkersPharmacogenetic Biomarker ValidationPharmacogenomic Association StudiesPharmacogenomic Biomarker DiscoveryPharmacogenomic ResponsePsoriatic DiseaseSingle Nucleotide Polymorphism Association StudiesSingle-nucleotide Polymorphisms
Abstract While anti‐TNF therapies are effective against psoriasis, 30%–50% of patients do not show an adequate response to these drugs. Different candidate‐gene pharmacogenetics studies have identified single nucleotide polymorphisms that may predict anti‐TNF drugs response in psoriasis. Nevertheless, only one paper has undertaken a pharmacogenomic approach failing to find significant biomarkers of biological drug response along the whole genome. Furthermore, most of the pharmacogenetic candidate biomarkers identified previously have not been confirmed in a different cohort of patients. The objective of this study was to find biomarkers that could predict anti‐TNF drugs response along the whole genome and validate biomarkers identified previously. A genome‐wide association study (GWAS) was performed using the Human Omni Express‐8 v1.2 Beadchips in 243 psoriasis patients treated with anti‐TNF drugs. This study was multicentric and did not interfere with clinical practice. Associations between single nucleotide polymorphisms (SNP) and PASI75 (a 75% reduction with respect to baseline PASI) at 3 months were evaluated. Imputation was performed using SNPs with R 2 > 0.7. There were two SNPs located in NPFFR2 that were close to the significant threshold of 5 × 10 −8 . These data suggest that NPFFR2 might be associated with anti‐TNF drug response. However, further studies involving a larger cohort of patients are needed in order to confirm these results.
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