Document Details

Document Type : Thesis 
Document Title :
THE PROPROTEIN CONVERTASE SUBTILISIN/ KEXIN TYPE 9 (PCSK9) GENE R46L VARIANT ASSOCIATION WITH CHANGES IN PLASMA LIPID LEVELS IN SAUDI’S IN JEDDAH AREA
ارتباط طليعة البروتين كونفيرتاز سبتيليزين / كيكسن النوع التاسع و جين R46L البديل مع تغير مستويات الدهون في البلازما في السعوديين في منطقة جدة)
 
Subject : Faculty of Nursing 
Document Language : Arabic 
Abstract : Introduction: PCSK9 has a well established role in lipid metabolism. The R46L polymorphism is recognized as loss-of-function (LOF) mutation in the PCSK9 gene. The occurrence of the R46L variant has been studied in different populations and was associated with cardiovascular disease (CVD) protection. However, no study has been conducted to look at the variants in the Saudi population as far. In this study, we estimated the prevalence of the protective variant PCSK9 R46L polymorphism in the Saudi population in Jeddah area and the relationship of the variant with plasma lipid levels (Total cholesterol and LDL-C), major risk factors for CVD. Methodology: A randomly selected cross-sectional samples from the population including 500 apparently healthy Saudi were recruited. The genotyping analysis of PCSK9 R46L (rs11591147) polymorphism was performed using a TaqMan SNP genotyping assay method. Results: We detected two heterozygous (GT) and one homozygous (TT) mutation of the R46L giving the prevalence (0.4% GT, 0.2% TT and 99.4% GG). Carriers of T allele had significantly 17.8% lower total cholesterol (4.43 ± 0.35 vs 5.39 mmol/L ± 0.59), and a 28.3% lower LDL-C (2.63 ± 0.06 vs 3.67 mmol/L ± 0.46) than GG carriers. Conclusion: Even though the LOF variant R46L showed lower prevalence than the western societies, this will translate into greater success in PCSK9 inhibition therapy and LDL reduction. More interesting, this is the first report of LOF variants in PCSK9 in Saudi population. Additional studies will be needed to confirm these findings. 
Supervisor : Dr. Zuhier A. Awan 
Thesis Type : Master Thesis 
Publishing Year : 1441 AH
2020 AD 
Co-Supervisor : Dr. Ghada MA. Ajabnoor 
Added Date : Thursday, January 16, 2020 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
فوزية عبد العليم بستويBastawi, Fawzia AbdulalimResearcher  

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