A Meta-Analysis Of Apolipoprotein B Gene Mutation In Hypercholesterolemia Based On Previous Studies

Apolipoprotein (Apo) B gene consists of 28 introns, 29 exons and encodes the protein component of LDL particles, which plays a central role in human lipoprotein metabolism. Mutations in the ApoB-100 will drastically alter its functional activity leading to a decrease in its binding to LDLR, resulting in high blood cholesterol levels. However, previous publications related to the mutations of ApoB-100 were not always unification. In current study, therefore, a meta-analysis was performed. A systematic literature analysis was conducted based on previous studies published in Pubmed, Pubmed Central (NCBI), Google by using following keywords: Apolipoprotein B gene, hypercholesterolemia, Familial Defective Apolipoprotein B-100 by the end of March, 2018. The prevalence of ApoB mutation was calculated and accessed by MedCalc (R). Additionally, the meta-regression analysis and subgroup analysis were conducted. As the results, the total of 22 cohort studies, that includes 17,303 hyper-cholesterolemic blood samples, were enrolled into current study. The analysis results indicated that the prevalence of ApoB mutation was 31.774% (95%CI = 8.288 - 61.912, p < 0.0001). Additionally, R3500Q was identified as the common mutation occurred in ApoB. The association between ApoB mutations and hypercholesterolemia was effected by different methods analysis (PCR-sequencing: prevalence = 30.731%; 95% CI = 4.561 - 67.104, p < 0.001; Other methods: prevalence = 32.265%; 95% CI = 10.739 - 58.846, p < 0.0001, Random model) and ethnic groups (European: prevalence = 35.929%; 95% CI = 6.956 - 72.486, p < 0.0001, Random model;Asian: prevalence = 33.806%; 95%CI = 3.681 - 75.061, p < 0.0001). In conclusion, the prevalence of mutations of ApoB-100 is high in hypercholesterolemia. R3500Q mutation is the frequent type of ApoB-100 mutations. The identification of prevalence of mutations of ApoB-100 was depended on ethnic group, methods.