Document Details

Document Type : Thesis 
Document Title :
Genetics Association between Different Metabolic Variants in APOA5 and PLIN1 in Type 2 Diabetes
الارتباطات الوراثية مع المتغيرات الأيضية المختلفة في جيني APOA5 وPLIN1 في مرضى السكري النوع الثاني
 
Subject : Faculty of Science 
Document Language : Arabic 
Abstract : Type 2 diabetes mellitus (T2DM) is a polygenic disorder, accounting for over 90% of all diabetes worldwide. T2DM is thought to be influenced by environmental and genetic factors, and greatly related to dyslipidemia. Genome Wide Association Studies (GWAS) had identified hundreds of genomic loci and variants associated with T2DM. Apolipoprotein A5 (APOA5) and Perilipin1 (PLIN1) are candidates of metabolic variants associated with T2DM. Therefore, we aimed to determine the genotype and allele frequency of selected APOA5 and PLIN1 variants in T2DM patients and investigate their association with T2DM and its clinical variables in the western region in Saudi population. A case-control study was conducted on 223 T2DM cases and 183 controls. Genotyping was performed by real-time polymerase chain reaction (RT-PCR) using TaqManTM Genotyping assays. We detected direct association of rs6496589 variant in PLIN1 gene with T2DM (p <0.001). Individuals with C/G and G/G are more likely to have diabetes 4.5 (p=0.01) and 20.75 (p=0.006) times respectively, than the control group. Hence, G allele in rs6496589 is potentially a risk allele associated with T2DM and one allele is enough to produce the disease. Additionally, PLIN1 rs1052700 genotypes A/T and T/T were associated with T2DM and the risk of diabetes increased by 2.27 and 2.21, respectively. While low TG was associated with the carriers of A/T (OR= 0.74, p=0.024) compared to the reference genotype A/A. Moreover, G/G carriers in APOA5 rs662799 were more likely to have high HbA1c 1.496 times compared to those with A/G. In conclusion, rs6496589 variant in PLIN1 were directly associated with T2DM patients. The rs662799 in APOA5 was associated with elevated HbA1c but not with T2DM itself. The A/T and T/T in PLIN1 variant rs1052700 were associated with T2DM but no association of PLIN1 variant rs894160 with T2DM. Keywords: type 2 diabetes; metabolic variants; apolipoprotein A5; perilipin 1 
Supervisor : Dr. Sherin Mohamed Bakhashab 
Thesis Type : Master Thesis 
Publishing Year : 1444 AH
2023 AD 
Co-Supervisor : Dr. Huda AlShaibi 
Added Date : Saturday, April 22, 2023 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
تهاني عطية السلميAlsulami, Tahani AtyahResearcherMaster 

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