Study the Relationship of PCSK9 Gene Polymorphism and PCSK9 Protein on Serum Bad Cholesterol and Risk of CVDs in Iraqi Patients
Keywords:cardiovascular diseases, Low density lipoprotein cholesterol, proprotein convertase sutelisin\ kixin type 9, low density lipoprotein receptor.
Cardiovascular disease responsible for number 1 of death worldwide. Many genetic and environmental
factors influence the development of CVDs. PCSK9 protein responsible for degradations of LDLR
which lead to increase blood level of bad cholesterol. Gain of function mutation in PCSK9gene result in
hypercholesterolemia and loss of function lead to hypocholesterolemia. Aim of this study: to investigate
the polymorphism of rs775278198 of PCSK9 gene and serum level of PCSK9 with their effect on LDL-C
level in CVDs patients. Materials and methods: a common SNP PCSK9 gene was studied using Real-
Time PCR and technique to show association between PCSK9 SNP with risk of developing CVDs. fifty of
cardiovascular diseases patients who were clinically diagnosed by physicians and fifty apparently healthy
individuals were conducted within this study. Blood samples were collected from all subjects after overnight
fasting. Genomic DNA was extracted from blood samples and analyzed for rs775278198 SNP in PCSK9
gene with specific primers and probes using Real-Time PCR technique. Also, serum levels of PCSK9 were
evaluated using Elisa kit supplied by Bioassay Technology Laboratory. In addition LDL-C levels were
measured by lipid profile test kit (CHOL2) supplied by Roch. Identification of PCSK9 SNP polymorphism
and PCSK9 serum levels with LDL-C levels in this study success percentage of the methods. Results: in
Real Time PCR, CVDs patients appeared the TT (20 vs 4, OR=6, p=0.028) genotypes were significantly
higher in patients when compared to controls group (20 vs 4%, OR=6, P=0.028) .In comparison of the
serum levels of PCSK9 in CVDs patient were higher than PCSK9 serum levels in controls group (p value
=f0.000005) at the same time there is a positive relationship between PCSK9 serum levels and LDL-C levels
as measured by Pearson Correlation.
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