Proprotein Convertase Subtilisin/Kexin Type 9 Gene Polymorphism (PCSK9) in Coronary Heart Diseases

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Abstract Background Genetic variation in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene has been identified as an important determinant of plasma LDL-C and the severity of coronary heart disease. Aim The aim of the study was to study the association between the single-nucleotide polymorphism (SNP) of PCSK9 E670G (rs505151) and CAD. Patients andMethods The present study is a case‒control study conducted on patients recruited from Internal Medicine Specialized Hospital (Cardiology Department), Mansoura University, from July 2019 to August 2020. One hundred patients with coronary heart disease, in addition to 100 apparently healthy age- and sex-matched subjects, were recruited from outpatient clinics to act as the control group (non-CAD). Results The AG genotype was significantly associated with higher TG than the AA genotype, while TC, HDL-C, LDL-C and non-HDL-C did not differ significantly between genotypes among the studied CAD groups. However, there was a nonsignificantly higher frequency of high risk levels of TC, LDL-C and non-HDL-C in the AG genotype than in the AA genotype in CAD cases. Furthermore, no significant difference was found regarding family history, DM, hypertension, BMI, TC, TG, HDL-C, LDL-C and non-HDL-C between the PCSK9 genotypes in the CAD group. Conclusion PCSK9 AG genotype and G allele carriers were significantly associated with a potential risk of CAD development. Furthermore, the presence of a risk allele could provide information regarding targeted preventive intervention (PCSK9 inhibitors).

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