Table 1.
Phenotype characterisation of 1000 AWI-Gen participants and 4116 AADM participants.
Table 2.
Functional annotation scores and minor allele frequencies for 14 SNP variants.
Fig 1.
Logistic regression of the 14 selected gene variants associated with LDL-cholesterol levels.
The plot shows the odds ratio (OR) for variants after adjusting for covariates (sex and geographic region). Bars represent 95% confidence interval (CI). When OR <1, the minor alleles are associated with low LDL-cholesterol levels. Only one variant is significantly associated with high LDL-cholesterol levels (rs679899) with a significant OR>1.
Table 3.
Allelic association of 14 variants with and without adjustment for multiple testing in 993 individuals.
Table 4.
Significant associations with LDL-cholesterol levels in the AWI-Gen cohort and replication in the AADM study.
Fig 2.
Genotypes relative to LDL-cholesterol distribution for 6 variants significantly associated with LDL-cholesterol levels after logistic regression.
The 993 AWI-Gen individuals with low and high LDL-cholesterol are included in the plots. A-D: APOB rs6752026, LDLRAP1 rs12071264, PCSK9 rs45613943 and LDLR rs72658855 show how LDL-cholesterol levels decrease with presence of the minor allele. E: LDLRAP1 shows how LDL-cholesterol levels decrease only when both minor alleles are present (deletion). F: APOB rs679899 shows an increase of LDL-cholesterol levels with the presence of the minor allele.
Fig 3.
Correlation of the polygenic risk score (PRS) with LDL-cholesterol levels in 993 individuals.
Six LDL-cholesterol associated variants (P<0.05) after adjustment for covariates. Cases include individuals with high LDL-cholesterol levels, and controls with low LDL-cholesterol levels. A: PRS calculated using six variants. Risk score refers to the number of lipid lowering alleles. Plot shows the frequency of cases and controls for each score. The curve of the controls is shifted to the right, indicating that in controls the LDL-cholesterol levels decreases with the addition of alleles associated with lower LDL-cholesterol levels (either common or minor allele). B: Plot of risk score against mean LDL-cholesterol level per risk score. It is apparent that with the addition of each allele associated with lower LDL-cholesterol levels (common or minor allele), the mean LDL-cholesterol level of the participants decreased.