NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Abstract

This study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (695 RA patients and 978 healthy controls) and DREAM (882 RA patients) registries. The meta-analysis of our data with those from the DANBIO registry confirmed that anti-citrullinated protein

Polymorphisms within Autophagy-Related Genes Influence the Risk of Developing Colorectal Cancer: A Meta-Analysis of Four Large Cohorts

“…To validate the genotypes of imputed SNPs that showed the lowest p -value in the association analysis ( NRG3 rs11196336 , DAPK2 rs11635284 , EGFR rs2075108 , TP73 rs4648553 and ATG5 rs546456 ), genotyping of the whole CORSA population and a subset of the Czech CCS study (1031 CRC cases and 886 controls) was carried out at GENYO (Centre for Genomics and Oncological Research, PTS Granada, Granada, Spain) using KASPar TM genotyping technology (LGC Genomics, Hoddesdon, UK) or Taqman ® SNP Genotyping assays (Thermo Fisher Scientific, Foster City, CA, USA) according to previously reported protocols [ 27 ]. For internal quality control, ~5% of samples were randomly selected and included as duplicates.…”

Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium

“…Associated with shorter survival in diffuse large B-cell lymphoma and susceptibility to bile duct cancer 8 , 9 Interleukin 12 alpha (IL12A) IL12A_Ex7 + 277 rs568408 A Binding motifs for TFE and SIX5 Interleukin 12 beta (IL12B) IL12B_Ex8 + 159 (+1188) rs3212227 C Associated with risk of solid tumours and survival of follicular lymphoma patients 5 , 10 Interleukin 13 (IL13) IL13_-1069 rs1800925 T Associated with susceptibility to glioma, glioblastoma multiforme and CRC and an increased risk of leukopenia in metastatic renal cell carcinoma patients. Regulome score 2b 11 – 13 IL13_Ex4 + 98 rs20541 T Associated with susceptibility to multiple cancers including NHL, CRC and glioma. Associated with radiation-induced toxicity following treatment for non-small cell lung cancer.…”

“…Associated with radiation-induced toxicity following treatment for non-small cell lung cancer. Regulome score 3a 11 , 14 – 17 IL13_IVS3-24 rs1295686 A HBV reactivation in rituximab-treated patients with NHL. Regulome score 3a 2 Interferon gamma (IFN-γ) IFNG_-1615 rs2069705 C Cytogenetic and molecular response with Imatinib in CML patients 18 IFNG_IVS3 + 284 (+2109) rs1861494 C Cytogenetic and molecular response with Imatinib in CML patients 18 Interferon gamma receptor 2 (IFN-γR2) IFNGR2_Ex7-128 rs1059293 T Associated with Breast cancer risk.…”

“…A set of AML patients were recruited from 2 Spanish medical institutions (Virgen de las Nieves University Hospital, Granada and Hospital of Salamanca, Salamanca), the University of Würzburg (Würzburg, Germany) and the University of Innsbruck (Innsbruck, Austria) 10 . Healthy controls included 667 Spanish blood donors from the REPAIR consortium 11 , 1000 German controls came from the Heinz-Nixdorf Recall (HNR) study 12 and 22 donors of allogeneic stem cell transplantation from the Medical University of Innsbruck (Innsbruck, Austria). In accordance with the Declaration of Helsinki, all study participants provided their written informed consent to participate in the study and the ethical committees of all participating centres and hospitals approved the study.…”

Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification

“…Neoplastic diseases associated with NFKB1 SNPs include CRC, Hodgkin lymphoma, NHL, cervical squamous cell carcinoma, liver, thyroid, breast, and lung cancer ( 178 – 186 ). rs11574851 of NFKB2 was found to be linked to RA susceptibility among anti-citrullinated protein antibodies-positive patients ( 187 ), while in healthy women rs1049728 of RELA associated with the concentration of soluble ICAM-1, which is an endothelium-derived inflammatory marker ( 188 ). Genetic variants of REL have been shown to be linked to various autoimmune diseases including RA, psoriasis, and celiac disease ( 189 – 193 ).…”