Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Avenida Cardenal Herrera Oria s/n, 39011, Santander, Spain.
`López Albo´ Post-Residency Programme, Hospital Universitario Marqués de Valdecilla, Santander, Spain.
Sci Rep. 2021 Jun 1;11(1):11510. doi: 10.1038/s41598-021-91055-z.
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.
BAFF、APRIL 和 BAFF-R 是参与 B 淋巴细胞发育和自身免疫的关键蛋白。此外，BAFF、APRIL 和 BAFFR 多态性与免疫介导的疾病有关，BAFF GCTGT>A 是几种自身免疫性疾病的共同插入缺失遗传变异。因此，我们评估了 BAFF、APRIL 和 BAFFR 是否代表免疫球蛋白 A 血管炎（IgAV）的新型遗传风险因素，IgAV 主要是 B 淋巴细胞炎症性疾病。与 BAFF GCTGT>A 共定位的 BAFF rs374039502 以及 APRIL（rs11552708 和 rs6608）和 BAFFR（rs7290134 和 rs77874543）中的两个标记变异在 386 名白种人 IgAV 患者和 806 名匹配的健康对照中进行了基因分型。当单独分析 BAFF、APRIL 和 BAFFR 变异时，在 IgAV 患者和对照组之间没有观察到基因型或等位基因差异。同样，当根据疾病发病年龄或胃肠道（GI）或肾脏表现的存在/不存在对 IgAV 患者进行分层时，BAFF、APRIL 或 BAFFR 的基因型和等位基因频率也没有统计学意义。当比较 IgAV 患者和对照组以及根据上述临床特征分层的 IgAV 患者之间的 APRIL 和 BAFFR 单倍型时，也揭示了相似的结果。我们的研究结果表明，BAFF、APRIL 和 BAFFR 不参与 IgAV 遗传网络。
