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.
Bibliographical noteFunding Information:
This study was supported by a grant of the Korea Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea (HMP-97-M-1-0011). We are grateful for resident doctors and phlebotomists of department of clinical pathology in Severance hospital for their assistance in collecting samples. We are indebted to Dr. Won Ki Min, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea for his kind donation of apo(a) isoform standard mixture (Immuno, Vienna, Austria). We are also grateful to Young Sook Park, PhD for her excellent technical support, Sun Ha Jee, PhD and Ki Jun Song, MS, for their statistical assistance.
All Science Journal Classification (ASJC) codes
- Clinical Biochemistry
- Biochemistry, medical