1Integrative Pharmacogenomics Institute (iPROMISE), level 7, FF3 Building, Universiti Teknologi MARA, 42300, Bandar Puncak Alam, Selangor, Malaysia
2Faculty of Pharmacy, Universiti Teknologi MARA, 42300, Bandar Puncak Alam, Selangor, Malaysia
Online published on 17 July, 2017.
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated cholesterol levels. Studies have shown that polymorphism in the LDLR gene is one of the contributors of FH. The aim of this study is to investigate the role of polymorphisms in exon 10 of LDLR gene in relation to LDL levels. Two different Single Nucleotide Polymorphisms (SNPs) were detected. The first SNP 29209G>A was detected in 33% of the samples. And the second SNP 29326A>G (novel SNP) was detected in only 8% of the samples. However, both SNPs 29209G>A and 29326A>G were synonymous with no change in the resultant amino acids. Morever, they lack significant phenotypic changes in relation to the LDL levels in blood. Therefore, further studies need to be done on epigenetic aspects to uncover the clinical significance of these two SNPs.
Familial hypercholesterolemia, low density lipoprotein, single nucleotide polymorphism, polymerase chain reaction
