Abstract
BAFF, APRIL and BAFF-R are key proteins involved in the development of B-lymphocytes and autoimmunity. Additionally, BAFF, APRIL and BAFFR polymorphisms were associated with immune-mediated conditions, being BAFF GCTGT>A a shared insertion-deletion genetic variant for several autoimmune diseases. Accordingly, we assessed whether BAFF, APRIL and BAFFR represent novel genetic risk factors for Immunoglobulin-A vasculitis (IgAV), a predominantly B-lymphocyte inflammatory condition. BAFF rs374039502, which colocalizes with BAFF GCTGT>A, and two tag variants within APRIL (rs11552708 and rs6608) and BAFFR (rs7290134 and rs77874543) were genotyped in 386 Caucasian IgAV patients and 806 matched healthy controls. No genotypes or alleles differences were observed between IgAV patients and controls when BAFF, APRIL and BAFFR variants were analysed independently. Likewise, no statistically significant differences were found in the genotype and allele frequencies of BAFF, APRIL or BAFFR when IgAV patients were stratified according to the age at disease onset or to the presence/absence of gastrointestinal (GI) or renal manifestations. Similar results were disclosed when APRIL and BAFFR haplotypes were compared between IgAV patients and controls and between IgAV patients stratified according to the clinical characteristics mentioned above. Our results suggest that BAFF, APRIL and BAFFR do not contribute to the genetic network underlying IgAV.
Highlights
Diseases of the Musculoskeletal System, IDIVAL, Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Avenida Cardenal Herrera Oria s/n, 39011 Santander, Spain. 2`López Albo Post‐Residency Programme, Hospital Universitario Marqués de Valdecilla, Santander, Spain. 3Epidemiology and Computational Biology
BAFF rs374039502 polymorphism, which colocalizes with the BAFF GCTGT>A insertion-deletion variant mentioned above, and two tag polymorphisms within a proliferation-inducing ligand (APRIL) and BAFFR, which cover most of the variability of both genes, were genotyped in the largest series of Caucasian patients diagnosed with Immunoglobulin-A vasculitis (IgAV) ever assessed for genetic studies
Cumulative knowledge clearly suggest that BAFF, APRIL and BAFF receptor (BAFF-R) are key molecules involved in the development of B-lymphocytes[1,2,3,4,5], that play a relevant role in the pathogenic processes underlying immune-mediated disorders[6,7,8]
Summary
Diseases of the Musculoskeletal System, IDIVAL, Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Avenida Cardenal Herrera Oria s/n, 39011 Santander, Spain. 2`López Albo Post‐Residency Programme, Hospital Universitario Marqués de Valdecilla, Santander, Spain. 3Epidemiology and Computational Biology. Diseases of the Musculoskeletal System, IDIVAL, Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Avenida Cardenal Herrera Oria s/n, 39011 Santander, Spain. Several pieces of evidence revealed that BAFF, APRIL and BAFF-R are molecules involved in a utoimmunity[6,7,8]. In this regard, an influence of BAFF, APRIL and BAFFR polymorphisms was observed on several immune-mediated c onditions[9,10,11], being BAFF GCTGT>A a shared insertion-deletion variant for multiple sclerosis, systemic lupus erythematosus (SLE), and rheumatoid arthritis[9,12]. IgAV has a multifactorial aetiology in which genes play a relevant role in both the predisposition and severity of the d isease[19,20,21]
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