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Title: Screening for Putative Mutations at the APOC3 Gene Locus in a Sample of Kuwaiti Arabs
Authors: زينب حسن مال الله 
Supervisor: د. سوزان البستان
Keywords: Putative Mutations APOC3 Gene Locus Kuwaiti Arabs
Issue Date: 2014
Publisher:  Kuwait university - college of graduate studies
Abstract: Apolipoprotein C3 (APOC3) gene could be considered as one of the main genetic risk factors for developing dyslipidemia. There are no studies reported on the sequence analysis of the whole APOC3 gene locus in any Arab population. The present study was undertaken to re-sequence the APOC3 gene locus so as to screen for putative and rare mutations and to detect any association between the observed SNPs with plasma lipid levels in a sample of Kuwaiti Arabs. In this study, a total of 100 apparently healthy Kuwaiti Arabs (50 F, 50 M) aged 18 – 69 (Average 30.44 years) were analyzed. SNPs were detected by direct re-sequencing of the APOC3 gene using the Sanger method. Genotypic and allelic frequencies were determined by simple gene counting method. The chi-square test was used to test the Hardy-Weinberg equilibrium (HWE) within the sample population. Haploview program v4.2 was used to check linkage disequilibrium (LD) between SNPs beside their haplotypes patterns. The possible association of lipid profile with APOC3 polymorphisms was statistically examined using SPSS v21.0. Different tests were applied including one-way analysis of variance (ANOVA) test, multiple linear regression (MLR), and cross tabulation test. A total of 45 different SNPs were detected including 3 novel SNPs. Most of the SNPs were found to be in HWE. There was LD variation within the APOC3 gene locus resulting in 3 blocks of haplotypes. Associations analyses revealed several possible association signals between 9 of the detected APOC3 SNPs and plasma lipid levels. Yet, most of these associations were of borderline significance and showed conflicting v results among different analyses. Thus, no firm conclusion can be drawn about the observed possible associations of APOC3 polymorphisms with plasma lipid levels. The present study was the first to reveal the genetic profile of APOC3 within Kuwaiti Arabs. This study suggests that it is unlikely that a major genetic variation of response exists, and it illustrates the complexity of dyslipidemia as a multifactorial disorder.
Appears in Programs:2050 Molecular Biology

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