BƯỚC ĐẦU XÁC ĐỊNH CÁC ĐA HÌNH ĐƠN TRÊN CÁC BỆNH NHÂN TĂNG CHOLESTEROL MÁU CÓ TÍNH CHẤT GIA ĐÌNH

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism characterized by high levels of LDL-cholesterol (LDL-C) in the blood. The mutation that occurs primarily in: LDLR, apoB, PCSK9, LDLRAP1 genes, 80% of which detected the LDLR gene mutation. However, many studies have demonstrated that polymorphisms are factors that also contribute to raising lipid in patients with FH, which is also one of the most overlooked factors. The study performed on 26 patients diagnosed with FHshowed that SNP rs1003723 with the rate of 7/26 (26.92%); SNP rs5925 appeared in 11/26 pediatric patients (42.31%). 6/26 pediatric patients (23.08%) had the presence of heterozygous SNP rs1003723 and/or SNP rs5925 but no mutations were found. Remaining 13/26 FH pediatric patients (50%) did not detect any both mutation and SNPs in some hotspot exons inLDLR gene. In the group that did not detect the mutation, the patients with SNPs had statistically significant higher TC than those without SNPs (p=0,005). Identifying SNPs in patients with FH and their families is a very important step and one of the evidence that helps clinicians intervene in early treatment, follow-up and anticipation, preventing cardiovascular risk complications from early occurring.