Original Article

Korean J Lab Med 2002; 22(6): 388-394

Published online December 1, 2002

Copyright © Korean Society for Laboratory Medicine.

Polymorphisms of Apolipoprotein B and Apolipoprotein E in Hypobetalipoproteinemic Korean



Background :Hypobetalipoproteinemia (HBL) is characterized by plasma concentration of low-density lipoprotein cholesterol below the fifth percentile in a healthy population. It has been suggested that HBL may be associated with apolipoprotein E (apoE) and apoB polymorphisms, such as apoB 8344 and apoB EcoRI. Method :Patients with HBL (n=51) and age-and- sex-matched healthy controls (n=136) were compared for apoE genotyping, apoB 8344 polymorphism and apoB EcoRI polymorphism. ApoE genotyping and apoB EcoRI polymorphism were determined by polymerase chain reaction (PCR) restriction fragment-length polymorphism. ApoB 8344 polymorphism was determined by the PCR-amplification refractory mutation system. We also searched truncated apoB with ECL western blotting in 23 HBL subjects. Result :We could not find any truncated form of apoB. We found significant elevation of the apoE 2 allele frequency of 0.147 in HBL cases compared with 0.063 in healthy controls (P=0.018). The ApoB 8344 polymorphism showed no significant difference between the HBL and the normal control groups. There were no significant apoB EcoRI allele frequency differences between the HBL and the normal groups. Conclusion :We could not find any relationship between HBL either with apoB 8344 or apoB EcoRI polymorphisms, but apoE 2 allele seemed to be associated with HBL in Koreans.

Keywords: Hypobetalipoproteinemia, Apolipoprotein B, Apolipoprotein E, Polymorphism, ApoB 8344, EcoRI