rs3212227

This case-control study analyzes 28 SNPs in 26 inflammatory response genes in 343 patients (100 with appendicitis, 243 controls) using TaqMan genotyping. Significant associations were found for IL-13 rs1800925 (OR=6.02, 95% CI 1.52-23.78), IL-17 rs2275913 (OR=2.38, 95% CI 1.24-4.57), and CCL22 rs223888 (OR=0.12, 95% CI 0.02-0.90), suggesting a genetic-driven inflammatory response as a pathogenic mechanism in appendicitis.

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

This prospective case-control study examined genetic variation in immune response genes and prostate cancer risk in the Prostate Cancer Prevention Trial (PCPT) placebo arm. Among 881 cases and 848 controls, the minor allele of rs3212227 in IL12(p40) was associated with increased prostate cancer risk (OR=1.30, 95% CI 1.10-1.53, P-trend=0.0017), particularly for lower-grade disease. The minor alleles of IL10 tagSNPs rs3021094 (OR=1.31, 95% CI 1.03-1.66, P-trend=0.03) and rs1800890 (OR=0.87, 95% CI 0.75-0.99, P-trend=0.04) showed significant associations. The study investigated whether observed associations were explained by PSA-associated detection bias and found that associations persisted in men with low PSA levels.

Meta-analysis of 11 studies examining IL12B polymorphisms rs3212227 and rs6887695 in psoriasis and psoriatic arthritis. For rs3212227, pooled odds ratios for the minor allele were 0.688 (95% CI 0.650-0.729) for psoriasis and 0.707 (95% CI 0.628-0.797) for PsA; for rs6887695, pooled ORs were 0.704 (95% CI 0.670-0.739) for psoriasis and 0.677 (95% CI 0.599-0.767) for PsA, demonstrating significant protective associations with both variants.

A case-control study of 575 Chinese Han psoriasis patients and 1,403 controls found that IL-12B rs6887695 G allele is significantly associated with psoriasis vulgaris susceptibility (OR=1.34, p=4.77e-005), particularly with plaque psoriasis, but not with age of onset, family history, or gender. The genotype GG was the most important genotype for psoriasis pathogenesis.

This hybrid case-parent triad and case-control study examined associations between 76 tagSNPs in IL10 and IL12 cytokine pathway genes (IL10, IL12A, IL12B, IL10RA, IL10RB, IL12RB1, IL12RB2) and cervical/vulvar cancer risk. Key findings include: IL10RA rs9610 (OR=1.76, 95% CI 1.15–2.68) and rs4252314 (OR=2.23, 95% CI 1.26–3.96) associated with increased cervical cancer risk; IL12RB2 rs4297265 (OR=0.46) and rs2229546 (OR=0.43) associated with reduced cervical SCC risk; IL12B rs3181224 associated with reduced vulvar SCC risk (OR=0.30, 95% CI 0.12–0.74); and IL12RB1 rs11575934 (OR=1.51, 95% CI 1.12–2.05) associated with increased cervical adenocarcinoma risk.

Case-control study investigating IL-12 family and IL-12Rb1 gene polymorphisms in esophageal cancer. rs3212227 CC/AC genotype significantly increased cancer risk (OR=1.515, P=0.006), and rs568408 AG/AA and IL-12Rb1 378 GG/GC also increased risk. These variants were associated with decreased serum IL-12p40 levels, suggesting impaired immune response contributes to esophageal cancer susceptibility.

This case-control study of 518 hemodialysis patients and 240 controls investigates the association between IL12A (rs568408), IL12B (rs3212227), and IL18 (rs360719) gene polymorphisms and development of antibodies to hepatitis B virus surface antigen (anti-HBs). The rs360719 CC genotype was individually associated with increased anti-HBs development (p=0.009). Combined rs568408 AA and rs360719 TT genotypes showed a 10.9-fold lower chance of anti-HBs development (OR=0.092, p=0.005), while combined rs3212227 CC and rs360719 TC showed a 4.6-fold lower chance (OR=0.217, p=0.042). The study demonstrates that IL12 and IL18 polymorphisms individually and jointly contribute to anti-HBs development in hemodialysis patients.

This case-control genetic association study of 206 Thai psoriasis cases and 114 controls validates IL12B and IL23R as psoriasis susceptibility genes in Asian populations. The IL12B SNP rs3212227 showed significant association (OR=1.64, p=0.0058), and haplotype analysis of IL12B SNPs yielded highly significant association (p=0.00081, OR=1.73). IL23R SNP rs7530511 showed marginal significance (p=0.017), while rs11209026 was not polymorphic. The results support the IL23-mediated inflammatory pathway in psoriasis pathogenesis across racial groups despite differences in risk allele frequencies.

A case-control study of 355 Thai adults with P. falciparum malaria examined associations between IL12B polymorphisms (rs17860508 and rs3212227) and severe malaria susceptibility. The IL12B pro1.1 genotype was associated with increased severe malaria risk (OR=2.34) and higher IFNγ levels, while the IL12B pro-2/3'UTR-T haplotype provided protection (OR=0.51). Protection against severe malaria was associated with enhanced IL-12p40 and reduced IFNγ levels.

This case-control study of 763 Crohn's disease cases and 254 healthy controls investigated 10 genes in the IL23/IL17 pathway, identifying novel haplotype associations in IL17A (p=0.02), IL17RA (p=0.001), IL17RD (p=0.001), IL12RB1 (p=0.003), and IL12RB2 (p=0.001). Combined risk haplotypes from multiple pathway genes showed cumulative effect with OR=4.3 for 5 risk haplotypes (p=1.7×10⁻⁷), and significant epistatic interactions were observed between IL17A and IL23R variants (p=0.047) and between IL17RA and IL23R variants (p=0.036).

This case-control association study examined whether IL-12B and IL-23R polymorphisms associated with chronic inflammatory diseases also contribute to myocardial infarction (MI) risk in 738 British MI patients and 716 controls. Testing five variants (rs11209026, rs7517847, rs1343151, rs10889677 in IL-23R and rs3212227 in IL-12B) showed no significant associations with MI (all p > 0.05), suggesting these variants are unlikely to be major contributors to MI pathogenesis despite their strong protective effects in inflammatory bowel disease and psoriasis.

This case-control study of 520 UK patients with psoriatic arthritis (PsA) and 2,260-4,681 controls examined IL23R and IL12B SNPs previously associated with psoriasis. Two IL23R SNPs (rs7530511 and rs11209026) showed borderline association when combined in a haplotype (adjusted p=0.013), while IL12B SNPs (rs3212227 and rs6887695) demonstrated stronger independent associations with PsA susceptibility under a dominant model (OR 1.43 for both). The results suggest these loci are primarily associated with psoriasis rather than PsA-specific arthritis.

This case-control study of 707 Spanish IBD patients (344 with Crohn's disease, 363 with ulcerative colitis) and 547 controls found significant associations between IL23R SNPs and IBD, with rs7517847 showing the strongest effect (OR = 0.79, p = 0.005). IL12B rs6887695 also showed association with IBD (OR = 1.24, p = 0.012), particularly in ulcerative colitis. No significant interaction between IL23R and IL12B polymorphisms was detected.

A case-control study of 127 multiple myeloma (MM) cases and 545 controls examined 82 common variants in 45 genes mediating immunity. IL4R rs2107356 (−28120T homozygotes, OR=1.91, 95% CI 1.08-3.38) and FCGR2A rs1801274 (−120G homozygotes, OR=1.95, 95% CI 1.06-3.60) were significantly associated with increased MM risk. A haplotype in the LTA*TNF complex (LTA −82C/−90G*TNF −1036C/−487G/−417G, OR=1.63, 95% CI 1.02-2.61) was also associated with increased MM risk compared to controls.

A candidate gene study of 837 psoriasis cases and 816 controls identified protective variants in IL-23 signaling genes. IL23R p.Arg381Gln (rs11209026) showed reduced frequency in cases vs controls (P=0.00014, OR=0.49). IL12B variants rs10045431 (P=0.0001, OR=1.41) and rs3212227 (P=0.036, OR=0.76) showed independent associations, establishing IL23 receptor signaling as a major pathway in psoriasis susceptibility.