rs1143633

This comprehensive literature review examines the role of interleukin-1 gene polymorphisms (IL1A and IL1B) in periodontitis susceptibility. Key findings indicate that rs1800587 and rs1143634 show the most consistent associations with periodontal disease across meta-analyses, though results vary significantly by ethnicity and population. Meta-analyses for rs1800587 show OR=1.22 for T allele in overall populations but significant association limited to Caucasians; rs1143634 shows OR=1.35-1.54 across multiple studies. Geographic and ethnic factors substantially influence genotype-disease correlations.

A case-control association study of 197 PTSD patients and 150 healthy controls in the Armenian population found that IL1B rs1143633 and rs16944 polymorphisms are protective against PTSD susceptibility. The rs1143633*C allele and rs16944*A allele had significantly lower frequencies in PTSD patients compared to controls (24% vs 39.7% and 21% vs 42%, respectively; OR=0.49 and OR=0.37). These findings suggest IL-1β genetic variants may modulate PTSD risk through effects on inflammatory response.

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

This case-control association study examined whether four coding SNPs in the IL-1 gene cluster (rs17561, rs1143634, rs419598, rs315952) are associated with Kawasaki disease (KD) susceptibility and coronary artery lesion (CAL) development in 109 Korean KD patients and 287 healthy controls. No significant associations were found between any of the four IL-1 cSNPs and KD or CAL development (all P > 0.05), suggesting the IL-1 gene cluster members are not genetic markers of KD susceptibility in the Korean population.

This prospective study of 316 HIV-positive adults identified genetic associations between inflammatory gene polymorphisms and Restless Legs Syndrome (RLS). Four IL1B SNPs (rs1143643, rs1143634, rs1143633, rs1071676) were significantly associated with RLS, with carriers of the minor allele having increased likelihood of RLS diagnosis (OR 2.56-10.3), explaining 15-17% of variance. IL17A rs8193036 was also significantly associated (OR 2.20, explaining 16% of variance) in adjusted logistic regression models.

A comprehensive case-control and longitudinal cohort study of IL1A and IL1B polymorphisms in rheumatoid arthritis (RA) involving 3,561 patients and 3,062 controls across multiple populations. Despite strong suggestive findings in the discovery NARAC sample (RA3/A OR 1.27, P = 0.0021; RA4/C OR 1.56, P = 0.036), these associations failed replication in independent case-control cohorts and erosion status analyses, leading to the conclusion that common variants in IL1A/B do not significantly contribute to RA susceptibility or severity in European-descent populations.

This computational modeling study examined IL-1 protein-receptor interactions in schizophrenia by analyzing genetic polymorphisms associated with the disease. The authors identified and analyzed 12 SNPs in IL-1 pathway genes (IL-1α, IL-1β, IL-1RA) and modeled their structural effects. The key finding was that rs315952 (p.Ser130Arg in IL-1RA) leads to weakened binding of IL-1RA to IL-1 receptors, potentially triggering the IL-1 signaling pathway and contributing to schizophrenia pathogenesis through dysregulated immune response.