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MultiPhen: Joint Model of Multiple Phenotypes Can Increase Discovery in GWAS

Figure 2

The correlation structure between pairs of lipids.

The left panel shows the correlation structure between total cholesterol (CHOL) and low-density lipoprotein (LDL) in 5655 individuals from the Northern Finland Birth Cohort 1966. Each circle depicts the value of CHOL (X-axis) and LDL (Y-axis) in mmol/L for each individual. The right panel shows the correlation structure between low-density lipoprotein (LDL) and high-density lipoprotein (HDL), in mmol/L, in the same individuals. The arrows in each plot show the direction of effect of a variant affecting only CHOL or only HDL, such that the genotypes of individuals underlying each plotted point are more likely to contain risk alleles for the labelled lipid moving through the points in the direction of the arrow. The diagonal arrows are based on the Friedewald Formula (Friedewald.72). The arrows indicate that effects of variants can be in very different directions in the 2-dimensional spaces shown; the aim of modelling and testing linear combinations of phenotypes is to capture effects in any direction.

Figure 2