rs2228145 is the major determinant of circulating sIL-6R levels at the <i>IL6R</i> locus.

Abstract

<p>(A) X² statistics for the association (additive allelic effects model of inheritance; see Methods) of 45 SNPs genotyped using the Illumina ImmunoChip with sIL-6R concentrations are plotted against the physical position of the SNPs on chromosome 1 (hg.19). Recombination rates and linkage disequilibrium (r²) values are based on CEU HapMap. Inset depicts exonic structure of the membrane-bound IL-6R (<i>fl-IL6R</i>) and the differentially spliced soluble isoform (<i>ds-IL6R</i>). (B) Results from a regression model containing all three independent IL6R SNPs. Mean differences in sIL-6R concentration (%) compared to the common homozygote reference groups are plotted for the 3 SNPs independently associated with sIL-6R levels. Box size is proportional to the number of individuals in each group and error bars represent the standard error of the mean. SE = standard error of the mean difference. R² = variance explained by the individual SNP.</p