LDLR and Hypercholesterolemia: After adjustment for age, sex, smoking and blood pressure, compared with the patients where no mutation had been identified, the OR for having CHD in patients with the LDLR, APOB or PCSK9 mutations were 1.84, 3.4 and 19.9, respectively (table 1), with an overall significant difference among groups (p=0.003).10 The no-mutation group from the Simon Broome study was included in the gene score analysis in the Talmud et al4 paper and had the expected high gene score, that is, they had polygenic hypercholesterolaemia.