rs1800871

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.

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 prospective cohort study of 135 infants hospitalized for bronchiolitis found that IL10 gene polymorphisms (rs1800896, rs1800871, rs1800872, rs1800890) were associated with increased atopy and early-life asthma at 5-7 years follow-up. Children carrying the IL10 rs1800896/rs1800871/rs1800872 low IL-10-producing variant genotype ACC/ATA had significantly higher current atopy (72% vs 38%, p=0.02; OR 2.2), and ATA haplotype carriers had elevated asthma risk between ages 1-3 years (OR 2.2-2.7).

A retrospective study of 49 pediatric stem cell transplant patients found that the GSTP1 SNP rs1695 was significantly associated with pulmonary function decline at 1 year post-SCT. Patients homozygous for the ancestral allele (A) showed greater decline in FEV1 (adjusted p<0.01) and FEF25-75 (adjusted p=0.02) compared to those with at least one minor allele (G), suggesting the Val158Met variant may provide protection against post-SCT pulmonary complications.

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.

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.

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.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

This is a Turkish master's thesis investigating the relationship between the rs924080 variant in the IL23R-IL12RB2 intergenic region (previously identified as Behçet's disease-associated in GWAS studies, P<0.0001) and IL23R/IL12RB2 gene expression in healthy volunteers. The study examined 14 healthy subjects (6 heterozygous AG, 4 homozygous AA, 4 GG control for the risk A allele) and found that the rs924080 A risk allele significantly enhanced IL-23R stimulation responses and IL-6 cytokine production, suggesting a modulatory role in Th17 and IL-6 responses implicated in Behçet's disease pathogenesis.

Population-based case-control study of Connecticut women showing that genetic polymorphisms in IL10RA (rs9610) and TNF (rs1800629) genes modify the association between blood transfusion and non-Hodgkin lymphoma (NHL) risk. IL10RA rs9610 GG genotype carriers with transfusion history had increased NHL risk (OR=1.9, 95% CI: 1.1-3.2), while AG/AA carriers had decreased risk (OR=0.6, 95% CI: 0.4-0.9), with significant gene-transfusion interaction (P=0.003).

A systematic literature review examining the association between toll-like receptor (TLR) single nucleotide polymorphisms and susceptibility to hepatitis B virus (HBV) and hepatitis C virus (HCV) infection, including disease progression to liver cirrhosis and hepatocellular carcinoma. The review identifies polymorphisms in TLR2, TLR3, TLR4, TLR5, TLR7, TLR8, and TLR9 genes that affect viral susceptibility and disease outcomes, with mechanisms involving altered gene expression and immune signaling.

Meta-analysis of 37,221 subjects examining the association between AURKA polymorphisms (rs2273535 and rs1047972) and breast cancer risk. rs2273535 showed increased BC risk in overall population (OR=1.08, 95% CI=1.01-1.15) and in Asians (OR=1.36, 95% CI=1.06-1.73), while rs1047972 showed decreased BC risk in Caucasians (OR=0.81, 95% CI=0.66-0.99).

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 PhD thesis comprises four association studies examining inherited variations in inflammatory cytokine genes and their pathogenetic role in rheumatoid arthritis (RA), multiple myeloma (MM), and B-cell non-Hodgkin's lymphoma (B-NHL). Paper I found that CHI3L1 promoter polymorphisms (rs4950928) were significantly associated with serum YKL-40 concentrations in 238 RA patients (P < 2.0e-16) and 605 controls. Paper IV reported CHI3L1 rs4950928 associated with follicular lymphoma 10-year overall survival (HRCG = 2.04, 95% CI 1.17-3.54). Papers II and III examined gene-gene interactions in MM and B-NHL risk and prognosis.

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.

This case-control study of 128 HCV-infected Brazilian patients and 94 healthy controls identified a significant association between TGFβ1 codon 25 (rs1800471) G allele and hepatitis C virus infection (P = 0.0005, OR = 2.9, 95% CI 1.6-5.6). The G/G genotype was significantly overrepresented in HCV patients (88.3% vs 68.1%, OR = 3.7, P = 0.0002). High-producing TGFβ1 phenotypes were also significantly associated with HCV infection (73.4% vs 52.1%, OR = 2.6, P = 0.0015). No associations were found with polymorphisms in TNFα, IFNγ, IL-10, TGFβ1 codon 10, or IL-6.

This cross-sectional study of 627 unvaccinated COVID-19 patients examined associations between cytokine gene polymorphisms and COVID-19 severity. Five polymorphisms were significantly associated with severe disease: TNF-α rs1800610 A allele (OR=1.50), IL-6 rs1800796 C allele (OR=1.64), IL-10 rs1800871 T allele (OR=1.94), IL-10 rs1800872 A allele (OR=1.87), and CCL5 rs3817656 G allele (OR=1.64). IL-10 rs1800629 was protective against moderate and severe disease.

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 journal issue contains multiple genetic association studies on rheumatoid arthritis (RA). A key REMARCA study (146 aCCP+ RA patients vs 314 controls) identified polymorphisms in CTLA4 (rs231775 +49A/G), IL10 (rs1800872 -592A/C), and IL6R (rs8192284 +358A/C) associated with high inflammatory disease activity, with CTLA4 and IL10 minor alleles showing increased risk (OR=1.4, p=0.02 and OR=1.9, p<0.0001 respectively) and IL6R minor allele being protective (OR=0.7, p=0.03). A separate study analyzed NOS3, PPARG, PPARGC1A, PPARGC1B and PAI1 polymorphisms in 73 RA patients for cardiovascular risk.

A review article examining the genetic basis of COVID-19 susceptibility and protection from a longevity model perspective. The authors propose that genetic variants in the renin-angiotensin system (ACE, ACE2, AT1R, ANGIOTENSINOGEN), innate immunity genes (TLR4, CCR5, Connexin37), inflammatory cytokines (IL-6, IL-10, TNF-α, IFN-γ), and coagulation factors (PAI-1, Factor V) may influence COVID-19 outcomes, with long-lived individuals (nonagenarians/centenarians) serving as a model for identifying protective genetic profiles.