rs1143627

A case-control study of 594 osteoporosis patients and 599 controls in northwestern Chinese Han population examined seven IL-1B variants. The AA genotype of rs2853550 was protective against osteoporosis (OR=0.11, p=0.038), while rs16944 (OR=1.19–1.42) and rs1143623 (OR=1.21–1.43) increased osteoporosis risk. The haplotype Grs1143630Ars1143627Grs16944 was associated with increased risk (OR=1.20, p=0.032), and a four-locus SNP-SNP interaction model (rs1143643, rs3136558, rs1143630, rs1143623) showed the best prediction accuracy.

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

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.

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.

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

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.

A case-control study of 326 cases and 748 controls identified 25 SNPs in genes involved in platelet activation, angiogenesis, and inflammatory response that modify the risk of aspirin-related upper gastrointestinal hemorrhage (UGIH). Seven SNPs (rs1387180, rs2238631, rs1799964, rs5050, rs689466, rs1799983, rs7756935) were positive modifiers increasing UGIH risk in aspirin users (RERI 1.75-4.95), while nine SNPs (rs2243086, rs1131882, rs4311994, rs10120688, rs4251961, rs3778355, rs1330344, rs5275, rs3779647) were negative modifiers reducing risk (RERI -2.74 to -0.95). Aspirin exposure alone increased UGIH risk approximately 5.82-fold (95% CI: 2.2-10.08).

A systematic review and meta-analysis of SNP associations with hepatocellular carcinoma (HCC) identified six SNPs in five genes with overall statistical significance. Two SNPs passed reliability criteria: rs1800562 (HFE, Cys282Tyr) with a recessive model OR of 5.20 (95% CI: 2.69-10.08) across 9 studies, and rs2279744 (MDM2) with an allele contrast OR of 1.57 (95% CI: 1.36-1.80) across 5 studies. Both were classified as having moderate epidemiological evidence by Venice guidelines.

This case-control study evaluated 12 SNPs in 8 inflammation-related genes across three studies (Los Angeles, Taixing China, and Memorial Sloan-Kettering) involving 2,049 smoking-related cancer cases and 1,666 controls. IL10 rs1800871 was inversely associated with oropharyngeal cancer (aOR: 0.69, 95% CI: 0.50-0.95) and positively associated with lung cancer among never smokers (aOR: 2.5, 95% CI: 1.3-5.1). TNF rs1799964 was inversely associated with smoking-related cancer in pooled never smokers (aOR: 0.36, 95% CI: 0.17-0.77). After Bayesian correction for multiple comparisons, IL10 rs1800871 and TNF rs1799964 emerged as noteworthy susceptibility markers for smoking-related cancers.

This case-control study of 159 Ukrainian individuals (144 born macrosomic, 27 normosomic) investigates genetic associations with deciduous tooth eruption timing. The study identified associations between RANKL rs9594759 (multiplicative model, increased risk of delayed eruption) and IL10 rs1800896 (overdominant model, increased risk of delayed eruption). CYP19A1 rs2414096 G allele and ESR1 rs9340799 -351 A allele were found as risk factors for fetal macrosomia formation. RANKL and IL10 variants showed multidirectional modifying effects on tooth eruption timing in macrosomic individuals.

Nested case-control study of 258 prostate cancer cases and 258 matched controls in the CLUE II prospective cohort examining genetic variants in inflammation and obesity-related genes. The IL10 -1082G>A variant (rs1800896, A allele) was positively associated with prostate cancer risk (AG vs GG: OR=1.69, 95% CI 1.10-2.60; AA vs GG: OR=1.81, 95% CI 1.11-2.96), while a TLR4 variant (rs4986790) showed inverse association, and no consistent associations were found for obesity-related gene variants.

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.

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.

This case-control study examined AHSG gene variants in 504 Swedish men (356 overweight/obese, 148 lean) and found that rs2593813 G/G genotype was more common in lean individuals (OR=2.01, P=0.009). The rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred increased risk for leanness (OR=1.90, P=0.027). These variants were in strong LD and associated with lower AHSG protein levels, supporting the hypothesis that reduced AHSG promotes insulin sensitivity and leanness.

A case-control study of 102 patients with symptomatic hip/knee arthroplasty (SA) and 93 asymptomatic controls examining IL-1 gene polymorphisms found that the IL1RN VNTR 498bp allele was significantly associated with SA complications (37% vs 11%, p<0.0001). In patients with atopy, the association was even stronger (60% vs 10%, p<0.000001), with 4-fold increased risk of SA complications. No significant associations were found for IL-1B polymorphisms (-3954, -511, -31) with the complications.