Genetic polymorphisms SNP (rs5925)‎ of LDLR gene associated with familial hypercholesterolemia in Iraqi patients

Abstract EN

The low density lipoprotein receptor (LDLR) allele status is the predominant hypercholesterolemia genetic risk factor.

Functional single nucleotide polymorphisms (SNPs) in human LDLR gene receptors represent an excellent nominee for association with hypercholesterolemia.

So, a common SNP ( c.1959T>C ; p.Val653Val , exon 13 , rs5925) in LDLR gene was studied using Real-Time PCR and restriction fragment length polymorphism (PCR-RFLP) techniques to show association between LDLR SNP with Familial hypercholesterolemia .

Seventy of Familial hypercholesterolemia patients who were clinically diagnosed by physician and 30 apparently healthy individuals were conducted within this study.

Blood samples were collected from all subjects after 12-14 hour fasting.

Genomic DNA was extracted from blood samples and analyzed for rs5925 SNP in LDLR gene with specific primers and probes using Real-Time PCR technique.

Also, genomic DNA was amplified by conventional PCR with specific primers for detection of this SNP using PCR-RFLP technique.

Using two methods in identification of rs5925 SNP for LDLR gene in this study come in different performance success percentage of the methods.

Where, the Real-Time PCR gave 100% performance success for all subjects, while PCR-RFLP gene gave only 64% performance success for FH patients and 70% for control group.

On the other hand, when the two methods were success to be done they gave fairly close results.

In RealTime PCR and PCR-RFLP, FH patients appeared CC homozygous genotype and TC heterozygous genotype significantly higher than in control group while the control group showed significantly increasing in TT homozygous when compared with FH patients.

In comparison of the allele frequencies of C and T of LDLR gene, FH patients showed that the variable allele C was higher than T allele within this group.

This association may be observed between allele polymorphism and risk of FH.