rs7750641

A two-stage genome-wide association study of 649 early-onset myasthenia gravis patients identified HLA-B*08 as the major genetic risk factor (OR=6.41, p=2.87×10⁻¹¹³) and TNIP1 Pro151Ala (rs2233290, OR=1.92, p=3.4×10⁻⁹) as a novel non-HLA locus. Together with PTPN22 (rs2476601, OR=1.71, p=8.2×10⁻¹⁰), these loci account for 62.9% of population attributable risk, implicating dysregulation of NF-κB signaling pathways in myasthenia gravis pathogenesis.

Genome-wide association study of 116 children with cardiac neonatal lupus (116 cases, 3,351 controls) identified 17 significant SNPs in the HLA region at 6p21, with the strongest association at rs3099844 (OR 3.34, P=4.52×10⁻¹⁰) near the MICB gene. Non-HLA associations were found at rs743446 (21q22, OR 2.40, P=5.45×10⁻⁶), rs2403106 (12q21, OR 2.48, P=2.62×10⁻⁶), rs1391511 (10p15, OR 1.84, P=6.6×10⁻⁶), and rs1890645 (1q31, OR 2.98, P=3.52×10⁻⁶). Results suggest genetic polymorphisms in inflammatory and apoptotic pathways contribute to cardiac injury in fetuses exposed to maternal anti-Ro/SSA antibodies.

This case-control study of 855 rheumatoid arthritis patients and 977 controls identified SNP associations in the MHC region using logistic regression across 2,360 markers. After adjusting for HLA-DRB1, 18 markers in 14 genes showed strong associations (P < 10^-4). The final model retained three independent markers: rs4678 in VARS2L (nonsynonymous R/Q at position 1049), rs2442728 upstream of HLA-B, and rs17499655 in HLA-DQA2 5'-UTR, confirming polygenic MHC contribution to RA beyond the shared epitope.