rs16944

This case-control study of 471 Serbian preterm infants (285 with early-onset sepsis [EOS], 186 controls) found that the IL1B rs16944 -511AA genotype was significantly associated with EOS susceptibility (OR=2.57, p=0.012) and lethal EOS outcome (OR=2.97, p=0.011). The AA genotype remained a significant risk factor after adjustment for gestational age, birth weight, Apgar score, and delivery type (p=0.025 for sepsis development; p=0.006 for lethal outcome).

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 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.

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 meta-analysis of 12 case-control studies (980-1,679 cases, 1,225-1,442 controls) examining IL-1B (-511) (rs16944) and IL-1RN (VNTR) polymorphisms in type 2 diabetes mellitus. The IL-1RN 2* allele was associated with increased T2DM risk overall (OR = 2.08, 95% CI [1.43-3.02]) and in East Asian populations (OR = 2.01, 95% CI [1.53-2.66]). The IL-1B (-511) T allele was associated with decreased T2DM risk in East Asian populations (OR = 0.76, 95% CI [0.59-0.97] in dominant model).

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 case-control study of 279 cirrhotic patients (178 with acute-on-chronic liver failure, 101 controls) examining IL-1 gene cluster polymorphisms found that IL-1β rs1143623 CC genotype (OR=0.34) and IL-1ra rs4251961 TC genotype (OR=0.58) were protective against ACLF and associated with lower inflammatory cytokine levels and reduced 28-day mortality. The protective genotypes modulated systemic inflammation through altered IL-1 signaling pathways.

This Chinese case-control study (615 RA patients, 839 controls) investigated associations between five apoptosis-related gene polymorphisms and rheumatoid arthritis susceptibility. Fas rs2234767 G/A and Bcl2 rs17757541 C/G were identified as risk factors for RA. FasL rs763110 C/T, Bcl2 rs12454712 T/C, and Caspase-8 rs1035142 G/T showed no association in the primary study. A meta-analysis including four studies (914 cases, 1128 controls) found no significant association overall for FasL rs763110 C/T with RA, but stratification analysis revealed increased risk among Caucasian patients.

Case-control study of 345 Indian women examining the association between HLA-DQB1 (rs6457617) and IL-1β-511 (rs16944) polymorphisms and cervical cancer risk. The A-allele of HLA-DQB1 showed OR=2.07 (95% CI 1.12-3.87, p=0.01) for cancer development, while the T-allele of IL-1β-511 showed OR=2.03-2.56. Combined presence of both minor alleles significantly increased risk (OR=3.54, 95% CI 1.41-9.06, p=0.002) in HPV16/18-infected women.

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

This case-control study of 207 Iranian SLE patients and 213 healthy controls examined 5 SNPs in IL-1 family genes. The IL-1RN rs315952 CT genotype was significantly protective against SLE (OR=0.63, 95% CI=0.42-0.95, P<0.05), while the T allele was associated with hematologic manifestations in SLE patients (OR=1.75, 95% CI=1.07-2.84, P=0.033). No significant associations were found for IL-1A rs1800587, IL-1B rs16944, IL-1B rs1143634, or IL-1R1 rs2234650.

This systematic literature review examines interleukin and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA) pathogenesis, diagnostics, and treatment. The paper summarizes polymorphisms in multiple IL genes (IL-1B rs16944, rs1143634; IL-6 rs1800795, rs1800796; IL-10 rs1800896; IL-23R rs11209026; IL-17A rs2275913 and others) across diverse populations, their associations with RA susceptibility and disease severity, and discusses current and future immunologic therapeutic targets including TNF inhibitors and IL-6 receptor antagonists.

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.

Case-control study of 238 knee osteoarthritis patients (total/partial knee replacement) and 495 healthy controls in a Croatian Caucasian population investigating IL1B SNP -511(G>A; rs16944) and IL1RN VNTR polymorphisms. No significant association was found for individual alleles or haplotypes; however, two genotypes (1-2/1-2 and 2-1/2-2) showed a trend toward association with disease susceptibility (P = 0.098 and P = 0.071, respectively, with OR 2.94 and 1.99).

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).

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

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 systematic literature review examines interleukin (IL) and interleukin receptor gene polymorphisms associated with rheumatoid arthritis (RA), covering studies from the past 10 years. The review discusses the pathogenesis of RA as a multifactorial autoimmune disease where genetic factors account for approximately 60% of disease risk. Multiple polymorphisms across IL-1, IL-2, IL-4, IL-6, IL-8, IL-10, IL-15, IL-17, IL-18, and IL-23R genes have been investigated in various populations, with inconsistent results across populations. The paper also reviews current and future therapeutic targets including anti-TNF, anti-IL-1, anti-IL-6, and anti-IL-17 treatments.

Candidate gene case-control study in 221 Caucasian juvenile dermatomyositis (DM) patients versus 203 controls identified TNF-α and IL-1 cytokine polymorphisms as risk and protective factors. TNF-α -308AG (OR 3.6), TNF-α -238GG (OR 3.5), and IL-1α +4845TT (OR 2.2) increased DM risk, while TNF-α -308GG (OR 0.26) and TNF-α -238AG (OR 0.22) were protective. TNF-α -308AA was a risk factor for calcinosis (OR 7.3) and ulcerations (OR 7.0), with TNF-α -308G allele protective for both complications.

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 study examined whether the effect of vitamin E supplementation on cytokine production in elderly nursing home residents depends on baseline cytokine levels. Among 110 elderly participants in a 1-year randomized controlled trial, the authors genotyped 7 SNPs in cytokine genes (IL-1β, IL-6, TNFα, IFNγ) and measured ex vivo cytokine production at baseline and follow-up. They found significant interactions between vitamin E treatment and baseline cytokine production for IFNγ (P=0.002-0.005), TNFα (P=0.009), IL-1β (P=0.053), and IL-6 (P=0.031), suggesting that vitamin E's immunomodulatory effects depend on individual baseline immune status.

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 cross-sectional study of 964 RA patients examined associations between genetic variants in IL-1, IL-6, IL-10, PTPN22, and SEPS with radiographic damage severity. IL-6 -174G allele showed allele-dose association with increased radiographic damage (P=0.005) specifically in RF-positive and anti-CCP-positive patients. Conversely, IL-10 -592CC genotype was associated with greater damage (P=0.006) but only in RF-negative and anti-CCP-negative patients. These associations were independent of autoantibody production.

Case-control study of 100 chronic polypoid rhinosinusitis patients and 100 healthy controls examining cytokine gene polymorphisms. TNFα -308 G/A polymorphism (rs1800629) showed increased risk (OR=2.00, 95% CI 1.12-3.59, p=0.02), while IL5 -703 C/T polymorphism (rs3807243) showed decreased risk (OR=0.53, 95% CI 0.30-0.95, p=0.03). Sex-stratified analysis revealed TNFα G/A was significantly associated with disease in women (OR=3.54, 95% CI 1.28-9.80, p=0.02). IL1β -511 C/T showed no significant associations.

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.