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Title: Screening for Putative Mutations at the APOA5 Gene Locus in a Sample of Kuwaiti Arabs
Authors: Anfal Ali Jassem 
Supervisor: د. سوزان البستان
Keywords: Putative Mutations APOA5 Gene Locus Kuwaiti
Issue Date: 2014
Publisher:  Kuwait university - college of graduate studies
Abstract: iv Abstract Dyslipidemias are multifactorial disorders of lipoprotein metabolism, including lipoproteins overproduction and deficiency. In dyslipidemia, multiple genes as well as multiple environmental factors are involved. Among the causal genes is a gene that encodes for apolipoprotein A5 (apoA5). APOA5 is a member of the apolipoprotein gene family which is located on chromosome 11q23 near the ApoA1/C3/A4 gene cluster. Common variants in the gene have been associated with lipid levels in several studies. The purpose of the present study was to sequence the full APOA5 gene in order to screen for putative SNPs and examine the association of the detected SNPs with plasma lipid levels. Automated Sanger sequencing was performed on 100 DNA samples belonging to Arab Kuwaiti subjects. The identified SNP’s were characterized and samples genotypic and allelic frequencies were determined. Statistical analysis including HWE, LD, one way ANOVA test, multiple linear regression and cross tabulation test were performed to investigate the association of the detected APOA5 polymorphisms with plasma lipid levels in the Kuwaiti Arabs population. A total of twenty two SNPs were recognized, two of them were novel. Moreover, LD analysis revealed single novel linkage disequilibrium between two APOA5 variations: rs619054 (c.*31C>T) and rs36077557 (c.162-251delC). Among the detected SNPs, only one SNP rs619054 (c.*31C>T) showed an association with plasma lipid levels in the sampled Kuwaiti Arabs population. The heterozygous genotype of SNP rs619054 (c. *31C>T) was significantly associated with lower TC levels in the sampled Kuwaiti Arabs before the adjustment of multiple testing and
Appears in Programs:2050 Molecular Biology

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