Co-Segregation of PCSK9 Gene I474V Variant with Diabetic and Hypercholesterolemic Subjects
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2017, Vol 6, Issue 6
Abstract
PCSK-9 has a tremendous role in lipid metabolism. PCSK9 variants have been concomitantly linked to alterations in plasma lipid profle, leading to increased risk of cardiovascular disease and diabetes mellitus. The aim of our study was to determine the frequency of PCSK-9 I474V variant in hypercholesterolemic and diabetic subjects. Plasma lipid profle and fasting blood glucose were assayed in 30 healthy, 25 hypercholesterolemic, and 45 diabetic subjects. Genomic DNA was extracted from whole blood and PCR was run using specifc primers to obtain an amplicon harbouring exon 9. The amplicon was later subjected to Sanger sequencing and. A missense mutation of PCSK9 I474V SNP was detected in the exon 9 of PCSK9 gene. Our results show a frequency of the PCSK9 I474V SNP in Hail region of Saudi Arabia and this frequency is higher among hypercholesterolemic and diabetic patients. To our best knowledge, this is the frst report of mutation of this nature in Hail region of Saudi Arabia.
Authors and Affiliations
Edem Nuglozeh| Department of Biochemistry, College of Medicine, University of Hail, Hail, Saudi Arabia, Corresponding e-mail: nuglozeh@gmail.com, Nabil A Hasona| Department of Biochemistry, College of Medicine, University of Hail, Hail, Saudi Arabia, Faculty of Science, Chemistry Department, Biochemistry Division, Beni-Suef University, Beni-Suef, Egypt
Keywords
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