rs844648

A case-control association study of 312 NMOSD patients and 487 healthy controls from a Han Chinese population found that TNFSF4 SNPs rs844648 and rs704840 were significantly associated with increased risk of neuromyelitis optica spectrum disorders (NMOSD), with rs844648 showing OR=1.30 (P=0.011) and rs704840 showing OR=1.27 (P=0.023) under the allelic model. The haplotype Ars844648Grs704840 was associated with increased risk (OR=1.27, P=0.026) while Grs844648Trs704840 was protective (OR=0.77, P=0.01).

This review article updates the genetics of systemic sclerosis (SSc), a multifactorial autoimmune disease. Key findings include identification of multiple susceptibility genes through candidate studies (STAT4 rs7574865, PTPN22 rs2476601, CD226 rs763361, TNFAIP3 rs5029939, and others) and genome-wide association studies revealing loci at HLA, STAT4, CD247, TNPO3/IRF5, and novel regions (TNIP1, RHOB). A large GWAS (N=2,296 cases/5,171 controls) identified HLA-DQB1 (rs6457617) as the strongest association and replicated CD247 rs2056626. Gene-gene interaction studies demonstrated additive effects of STAT4, IRF5, and NLRP1 variants on disease susceptibility.