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Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Immunoglobulin A vasculitis (IgAV) is an inflammatory disease mediated by B cells. Nuclear factor kappa B (NF-\u03baB) is essential for B-cell development and maturation and plays a key role in autoimmunity and inflammation. In particular, the NF-\u03baB canonical activation pathway genes\n                      <jats:italic>NFKB1<\/jats:italic>\n                      (encoding NF-\u03baB1) and\n                      <jats:italic>NFKBIA<\/jats:italic>\n                      (encoding NF-\u03baB inhibitor alpha) have been identified as risk\n                      <jats:italic>loci<\/jats:italic>\n                      for several immune-mediated diseases, but their role in IgAV remains unclear. This study aimed to determine whether\n                      <jats:italic>NFKB1<\/jats:italic>\n                      and\n                      <jats:italic>NFKBIA<\/jats:italic>\n                      represent novel genetic risk factors for IgAV pathogenesis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>NFKB1<\/jats:italic>\n                      promoter variant \u221294 ins\/del ATTG (rs28362491), six tag\n                      <jats:italic>NFKB1<\/jats:italic>\n                      polymorphisms (rs77830930, rs1598856, rs7340881, rs4648055, rs4648090, and rs230547), and seven tag\n                      <jats:italic>NFKBIA<\/jats:italic>\n                      variants (rs3138055, rs696, rs1022714, rs2233419, rs2233415, rs1050851, and rs1957106) were genotyped in 343 Caucasian IgAV patients and 764 healthy, ethnically matched controls using TaqMan probes. Patients were stratified according to age at disease onset and the presence or absence of renal, articular, and gastrointestinal manifestations. Genotype, allele, and haplotype frequencies were compared between patients and controls, as well as across clinical subgroups.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      No statistically significant differences were found in genotype or allele frequencies of\n                      <jats:italic>NFKB1<\/jats:italic>\n                      or\n                      <jats:italic>NFKBIA<\/jats:italic>\n                      between IgAV patients and healthy controls. Likewise, haplotype frequencies of both genes were similar across groups. No associations were observed when patients were stratified by clinical features, including renal involvement, age at onset, or articular\/gastrointestinal symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our findings do not support a major role for the\n                      <jats:italic>NFKB1<\/jats:italic>\n                      or\n                      <jats:italic>NFKBIA<\/jats:italic>\n                      variants studied in IgAV susceptibility or severity. These results suggest that if NF-\u03baB signaling contributes to IgAV pathogenesis, it likely involves other biological mechanisms.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2025.1692908","type":"journal-article","created":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T05:28:16Z","timestamp":1761283696000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis"],"prefix":"10.3389","volume":"16","author":[{"given":"Joao Carlos","family":"Batista-Liz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Sebasti\u00e1n Mora-Gil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Renuncio 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