Potential role of LDLR in familial hypercholesterolemia / Cannilia Kerine

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 contributor of FH. Two polymorphisms were detected in exon IO in this study done in twelve subjects. 292090> A SNP was detected in 50% of the samples. A probable novel SNP 29326A>G was detected in only 8% of the samples. SNPs 29209G>A and 29326A>G were both synonymous with no change in amino acid. For future plan, allele specific polymerase chain reaction (AS-PCR) can be done to validate the SNPs. Further studies need to be done to increase the understanding of genetic factors that contributes to hypercholesterolemia among the Malaysians.