rs20541

This case-control association study examined HLA-DQ rs9275596, IL13 rs20541, and IL13 rs1800925 polymorphisms in 378 shrimp-allergic patients and 125 controls from West Bengal, India. Risk genotypes HLA-DQ rs9275596 CC (OR=2.88, P=0.04), IL13 rs20541 AA (OR=3.60, P=0.01), and IL13 rs1800925 TT (OR=5.48, P=0.03) were significantly associated with challenge-proven shrimp allergy and elevated shrimp-specific IgE levels. The IL13 TA haplotype showed significant association with shrimp allergy and had synergistic effects with the HLA-DQ CC genotype in elevating specific IgE (P=0.03).

A meta-analysis of 21 case-control studies examining IL-13 and CD14 gene polymorphisms in allergic rhinitis (AR). The A allele of IL-13 SNP rs20541 was significantly associated with increased AR risk in Asians (OR 1.21, 95% CI 1.11-1.32, P<0.001) but not in Caucasians. No significant associations were found for IL-13 rs1800925 or CD14 rs2569190 with AR risk in either ethnic group.

This pharmacogenetic study of 374 patients with metastatic renal cell carcinoma examined SNP associations with sunitinib-induced toxicity. The IL8 rs1126647 T allele was associated with increased hypertension risk (OR=1.69, P=0.024), and the IL13 rs1800925 T allele was associated with increased leukopenia (OR=6.76, P=0.020) and grade >2 toxicity (OR=1.75, P=0.028). No significant associations were found with progression-free survival, overall survival, or clinical response.

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).

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.

Genome-wide association study of 116 children with cardiac neonatal lupus (116 cases, 3,351 controls) identified 17 significant SNPs in the HLA region at 6p21, with the strongest association at rs3099844 (OR 3.34, P=4.52×10⁻¹⁰) near the MICB gene. Non-HLA associations were found at rs743446 (21q22, OR 2.40, P=5.45×10⁻⁶), rs2403106 (12q21, OR 2.48, P=2.62×10⁻⁶), rs1391511 (10p15, OR 1.84, P=6.6×10⁻⁶), and rs1890645 (1q31, OR 2.98, P=3.52×10⁻⁶). Results suggest genetic polymorphisms in inflammatory and apoptotic pathways contribute to cardiac injury in fetuses exposed to maternal anti-Ro/SSA antibodies.

A genetic association study identified the ERAP2 gene as a novel preeclampsia susceptibility locus on chromosome 5q using SNP genotyping in Australian/New Zealand families (n=480) and an independent Norwegian case-control cohort (1,139 cases, 2,269 controls). ERAP2 variants rs2549782 (Australian cohort, p uncorr=0.004, p corr=0.018) and rs17408150 (Norwegian cohort, p uncorr=0.009, p corr=0.039) showed significant experiment-wide corrected associations with preeclampsia. ERAP1 variants also showed borderline associations (rs3734016, p uncorr=0.009 in Australia; rs34750, p uncorr=0.011 in Norway).

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 evaluated four IL13 gene polymorphisms (rs1800925, rs847, rs20541, and rs2243204) in 107 systemic sclerosis (SSc) patients and 170 controls. Two IL13 polymorphisms were associated with SSc: rs1800925 (IL13-1055) and rs2243204 showed associations in both total and diffuse cutaneous SSc populations (p=0.03-0.04). The rs2243204 T allele was more frequent in SSc patients overall (OR=2.3, 95% CI 1.21-4.38) and in diffuse cutaneous SSc (OR=2.95, 95% CI 1.35-6.49), suggesting IL13 polymorphisms may contribute to SSc susceptibility and phenotypic expression.

This case-control study of 113 Kuwaiti Arab psoriatic arthritis (PsA) patients and 104 controls found significant associations between IL6 -174G/C (rs1800795, OR 2.22, p=0.02 for CC genotype) and TNF-alpha -308A/G (rs1800629, OR 3.91, p<0.0001 for G allele) polymorphisms and PsA susceptibility. IL13 R130Q (rs20541) showed no significant association. These findings suggest IL6 and TNF-alpha genetic variants contribute to genetic susceptibility to PsA in this population.