rs11203366

This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.

This case-control association study examined five PADI4 SNPs (rs11203366, rs11203367, rs874881, rs2240340, rs1748033) in 378 Chinese Han RA patients versus 204 controls. While PADI4-92 (rs874881) showed a statistically significant genotype difference (χ²=12.07, p=0.0024) with a protective effect (OR<1), overall PADI4 polymorphisms were not significantly associated with RA susceptibility in this population, contrasting with positive findings in Japanese and Korean populations.

This case-control study of 129 rheumatoid arthritis (RA) patients and controls examined associations between PADI4 polymorphisms and anti-PAD-4 autoantibodies. Anti-PAD-4 antibodies were found in 36-42% of RA patients and were highly specific for RA. The PADI4 susceptibility haplotype (rs11203366, rs11203367, rs874881) was associated with anti-PAD-4 antibodies (OR 2.59 [95% CI 1.02-6.08], P=0.04), particularly in heterozygotes (OR 4.02, P=0.009). Strong anti-PAD-4 responses were independently associated with severe joint damage (mean Sharp score 113 vs 64 in positive vs negative groups; P=0.001).