rs2569190

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 study examined 136 chronic hepatitis C patients for the TLR7 rs179008/Gln11Leu SNP and found the variant T allele associated with portal lymphoid aggregates (P=0.013 in males, P=0.032) and significantly lower hepatic IL-29/IFNλ1 expression (P=0.015) and IL-28 receptor expression. The T allele showed a trend toward reduced interferon-alpha treatment response (30% vs 63% response, P=0.069).

This case-control association study examined the CD14 promoter -260 C>T variant (rs2569190) in 254 African American prostate cancer cases and 188 controls. The C genotypes showed marginal association with prostate cancer overall (P=0.07), but significant association in men ≥55 years (OR: 2.18, 95% CI: 1.07-4.44, P<0.05) and specifically in African Americans (OR: 2.40, 95% CI: 1.20-4.70, P<0.05), suggesting inflammatory pathway genetic variation contributes to prostate cancer susceptibility.

Case-control study of 179 patients with chronic hyperplastic sinusitis with nasal polyposis (CHSwNP) and 153 controls examining 14 cytokine gene polymorphisms. The TNFα -308 SNP (rs1800629) was significantly associated with nasal polyposis susceptibility, with the A allele present in 18.6% of cases versus 11.5% of controls (odds ratio 1.86, 95% CI 1.14-3.09). All other cytokine polymorphisms tested were not statistically significant.

Meta-analysis of 7 case-control studies (1488 CVD patients, 1600 controls) examining the CD14 C260T polymorphism (rs2569190) as a risk factor for cerebrovascular disease. The T allele showed no significant association with CVD risk under either fixed or random effects models (OR=0.99, 95% CI 0.89-1.09, p=0.84), and similar null findings were observed for genotype comparisons.

This functional study investigates the molecular mechanisms of the CD14 rs2569190 polymorphism in peripheral blood mononuclear cells using chromatin immunoprecipitation and allele-specific transcript quantification. The T allele of rs2569190 showed approximately twice the recruitment of serine-5-phosphorylated RNA polymerase II compared to the C allele, suggesting enhanced transcription initiation; however, transcript abundance was similar between alleles. The findings indicate that rs2569190 affects transcription initiation but not mRNA expression levels in PBMC, and suggest that endotoxin sensitivity associated with this polymorphism may depend on tissue-specific effects in hepatic or other cell types rather than myeloid CD14 expression.