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Knowledge-Driven Analysis Identifies a Gene–Gene Interaction Affecting High-Density Lipoprotein Cholesterol Levels in Multi-Ethnic Populations

Figure 2

Marginal and interaction effect sizes on HDL-C level in ARIC EA cohort.

A) Boxplot of the effect sizes of rs2043085. Allele T of rs2043085 leads to increased HDL-C, with median levels of 45.8, 46.9 and 49.3 mg/ml for CC, CT, and TT (difference in mean levels reported in main text). B) Boxplot of the effect sizes of the SNP pair, rs3846662∶rs2043085. The genotype AA∶TT leads to a considerable increase of HDL-C. The median HDL-C level in the entire sample is 46.7 mg/ml, while the median level for AA∶TT is 52.7 mg/ml (rs2043085 is the only one of the two that is associated by itself with HDL-C, hence shown in panel A).

Figure 2