The autoimmunity-associated gene CLEC16A
modulates thymic epithelial cell autophagy and alters T cell selection.
Lu et al., "Association of primary biliary cirrhosis with variants in the CLEC16A
, SOCS1, SPIB and SIAE immunomodulatory genes," Genes and Immunity, vol.
Among these, IL12A, IL12RB2, IRF5, TNPO3, DENND1B, SPIB, TNFAIP2, CXCR5, CLEC16A
, RAD51L1, IRF8, RPS6KA4, MAP3K7IP1, TNFRSF1A, PLCL2, ELMO1, and ARF7 played an important role in the morbidity of PBC in European ancestries, while TNFSF15 and POU2AF1 were unique in Japanese ancestries, and CD80, IKZK3, Il7R, NFKB1, and STAT4 were proved to be associated with PBC in both races.
Different non-MHC candidate gene products related to T1D involving the cytokine pathways are IL-12B, 2'-5'-oligoadenylate synthetase 1 (OAS1), small ubiquitin-like modifier 4 (SUM04), paired box gene 4 (PAX4), protein tyrosine phosphatase N2 gene (PTPN2), regulatory and proinflammatory T-cells, macrophage-related cytokines including interferon gamma (IFN-[gamma]), tumor necrosis factor alpha (TNF-[alpha]), interleukin-4 and interleukin-10 (IL-4 and IL-10), and C-type lectin domain family 16 (CLEC16A
) [29, 69-81].
Furthermore, S Nischwitz (Germany) delineated a LD block of approximately 50 Kb within the CLEC16A
gene that may play a pivotal role in the susceptibility to MS, and possibly other autoimmune diseases such as type-I diabetes.