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Title: Identification and Characterization of Variants in Intron 6 of the LPL Gene Locus Among a Sample of the Kuwaiti Population
Authors: Reem Toma Al-Shammari 
Supervisor: Dr. Suzanne A. Al-Bustan
Degree Awarded: Master's Degree in: Molecular Biology
Keywords: Identification and Characterization of Variants in Intron 6 , LPL Gene Locus , Kuwaiti Population
Issue Date: 2016
Publisher:  Kuwait university - college of graduate studies
Abstract: The lipoprotein lipase (LPL) is the key enzyme accountable for triglycerides (TGs), very low-density lipoproteins (VLDLs), and chylomicron lipolysis. The 30KB LPL gene is located at chromosome 8p22. It has been suggested that defective LPL could theoretically affect lipoproteins levels through a variety of metabolic and transport mechanisms and its inactivity has been related to phenotypic abnormalities. This project aims to identify some of the insertions and deletions (InDels) and single nucleotide polymorphisms (SNPs) of LPL gene and to investigate their association in a large sample of Kuwaitis presenting different phenotypes. The examined population in this study comprises a total of 729 random samples of men and women aged 18-87 years. For each sample, clinical diagnoses, demographics, prescribed medications, and laboratory data which included lipid profile were obtained. Further categorization of the data was performed for more focused analysis by applying a defined inclusion criterion. Subjects were grouped based on the International Diabetes Federation (IDF) metabolic syndrome (MetS) diagnosis criteria (n=117) along with subjects diagnosed with coronary heart disease (CHD) (n=171). Finally, based on the inclusion criteria, healthy individuals were selected from those that were not diagnosed with any disease (n=166) at the time of sample collection. Two specific regions of intron 6 of the LPL gene that are known for major presence of InDels were amplified using two sets of primers. Statistical analysis including Chi-square test, Hardy-Weinberg Equilibrium (HWE), and logistic regression were applied to determine the genotypic and allelic frequencies and to identify the potential associations of the detected variants on the lipid profiles of the studied population. Sixteen variants were detected including two insertions, two novel SNPs and 12 reported SNPs. The most common variables observed among the population were rs149553676, rs58935878, rs295, and rs294. The rs149553676 variant showed associations with low levels of TGs and VLDLs suggesting a potential protective role. On the other hand, the rs294 and rs295 showed a strong association with increased LDL levels. The rs58935878 variant showed a dramatic effect on TG and VLDL levels as it increased them 8.7 and 9.6 times higher, respectively, in patients suffering from CHD and MetS. This is the first local study that focuses on intronic variants and their association with phenotypic traits in the Kuwaiti population. The findings are important as it sheds light on possible effects of intronic variants on lipid profiles and their associations with the metabolic syndrome.
Appears in Programs:2050 Molecular Biology

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