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. Author manuscript; available in PMC: 2017 Jun 7.
Published in final edited form as: J Am Coll Cardiol. 2016 Apr 3;67(22):2578–2589. doi: 10.1016/j.jacc.2016.03.520

Figure 1. Impact of Familial Hypercholesterolemia, Rare Missense, and Rare Synonymous Mutations on LDL Cholesterol and Coronary Artery Disease.

Figure 1

For each class of variants, the number of individuals within the 14,117 participants of the Myocardial Infarction Genetics Consortium case-control studies and % of CAD cases and CAD-free controls is provided. Number of individuals within each mutation category sum to more than the overall familial hypercholesterolemia mutation numbers due to overlap across variant classification. Increase in LDL cholesterol values determined via linear regression with adjustment for age, age2, gender, cohort, and principal components of ancestry. Odds ratios for CAD were calculated via logistic regression with adjustment for gender, cohort, and principal components of ancestry.