rs4914

This candidate gene study of 1,817 participants from the ARIC Carotid MRI cohort identified genetic variants associated with monocyte activation markers. TLR2 rs1816702 was associated with increased CD14+/TLR2+ monocyte levels in whites (p<0.001), while TLR4 rs5030719 was associated with CD14+/TLR4+ levels in blacks (p<0.001). MPO gene variants also showed modest associations with monocyte MPO levels, demonstrating population-specific genetic influences on immune cell surface receptor expression.

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.