title: The apolipoprotein(a) size, pentanucleotide repeat, C/T(+93) polymorphisms of apolipoprotein(a) gene, serum lipoprotein(a) concentrations and their relationship in a Korean population.
abstract: 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.
authors.affiliation: Department of Clinical Pathology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul 135-720, South Korea. jeongho@yumc.yonsie.ac.kr
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
authors.forename: K H
authors.initials: KH
authors.lastname: Roh
authors.forename: S M
authors.initials: SM
authors.lastname: Nam
authors.forename: H Y
authors.initials: HY
authors.lastname: Park
authors.forename: Y
authors.initials: Y
authors.lastname: Jang
authors.forename: D K
authors.initials: DK
authors.lastname: Kim
authors.forename: K S
authors.initials: KS
authors.lastname: Song
mesh_terms: D001054:Apolipoproteins A / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005838:Genotype; D006801:Humans; D007723:Korea; D017270:Lipoprotein(a) / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012044:Regression Analysis
chemical_list: D001054:Apolipoproteins A; D017270:Lipoprotein(a)