Background: In addition to apolipoprotein(a) [apo(a)] kringle 4 variable number of tandem repeat (K4-VNTR), pentanucleotide repeat polymorphism (PNRP) and C/T(+ 93) polymorphism [C/T(+ 93)] of apo(a) gene have been suggested to be related to lipoprotein(a) [Lp(a)] concentration. We studied the distribution of these genetic polymorphisms and their relationship with Lp(a) concentrations in a Korean population. Methods: One hundred thirty-two Korean adults were examined. Lp(a) was measured with enzyme-linked immunosorbent assay (ELISA). Apo(a) K4-VNTR was measured by high-resolution SDS-agarose gel separation and ECL Western blotting method. PNRP was measured after DNA amplification. The C/T(+ 93) ratio was measured by a amplification refractory mutation system. Results: Lp(a) was inversely correlated with K4-VNTR (r = 0.732, p < 0.0001), but was associated neither with any PNRP haplotype nor with C/T(+ 93) by multiple regression analysis, although we found a significant decrease of Lp(a) in PNRP 9/9 individuals (p < 0.01). There was a strong linkage disequilibrium between 9 haplotypes of PNRP and the T haplotype of C/T(+ 93). Conclusions: Inverse relationship between serum Lp(a) and K4 number of apo(a) was confirmed in normal Korean adults. PNRP 9/9 genotype appeared to have a reducing effect on Lp(a), but neither 9 haplotype heterozygotes of PNRP nor the T haplotype C/T(+ 93) affected Lp(a) concentrations in Koreans.
All Science Journal Classification (ASJC) codes
- Clinical Biochemistry
- Biochemistry, medical