Proprotein Convertase Subtilisin/Kexin Type 9 Gene Variants in Familial Hypercholesterolemia: A Systematic Review and Meta-Analysis

Proprotein Convertase Subtilisin Kexin type 9 (PCSK9), comprises 12 exons, encoded for an enzyme which plays a critical role in the regulation of circulating low density lipoprotein. The gain-of-function (GOF) mutations aggravate degradation LDL receptors, resulting familial hypercholesterolemia (FH), while loss-of-function (LOF) lead to higher levels lower cholesterol, and preventing from cardiovascular diseases. It is noted that, previous publications related PCSK9 were not always unification. Therefore, this study aims present spectrum distribution gene by meta-analysis. A systematic literature analysis was conducted based on studies published using different keywords. weighted average frequency mutation calculated accessed MedCalc®. total 32 cohort studies, that included 19,725 blood samples, enrolled current study. results indicated random-effect model, prevalence 5.67% (95%CI = 3.68–8.05, p < 0.0001). GOF 3.57% 1.76–5.97, 0.0001) LOF 6.05% 3.35–9.47, Additionally, first second exon identified as hot spot occurred PCSK9. Both have proportion Asia Africa compared with other regions. p.(Glu32Lys) p.(Leu21dup/tri) dominant region 6.58% 5.77–7.47, 0.62) 16.20% 6.91–28.44, 0.0022), respectively. This provided scientific evidence suggest metabolism lipoprotein atherosclerotic disease.