title: Contribution of the apo[a] phenotype to plasma Lp[a] concentrations shows considerable ethnic variation.
abstract: Apolipoprotein[a] polymorphism has been investigated by sodium dodecyl sulfate polyacrylamide (5.37%) gel electrophoresis and immunoblotting using a standardized sample load in four ethnic groups: German, Ghanaian, Chinese, and San (Kalahari Bushmen). A total of 10 different apparent molecular weight (Mr) polymorphs, designated 1 to 10 with increasing Mr, were detected in greater than 99% of all individuals tested (German, 99%; Ghanaian, 99%; Chinese, 100%; San 100%). A null allele is therefore at most an infrequent variant in all populations. Polymorphs 6-10 were common to all four populations, while polymorphs 1-5 appeared to be relatively rare variants not universally detected in each group in the present study. The Chinese had the highest proportion of double-band phenotypes and the observed frequencies were not significantly different from those expected according to simple Mendelian inheritance, whereas the observed apo[a] phenotype distributions of the other three groups did not concur with those expected for Hardy Weinberg equilibrium. The German and Ghanaian groups displayed similar distributions of apo[a] phenotypes while the Chinese and San had significantly higher frequencies of polymorphs 9 and 10. Mean plasma Lp[a] concentrations in Ghanaians (36.2 +/- 31.5 mg/dl) were almost 2-fold greater than in Germans (18.7 +/- 23.1 mg/dl) and ca 1.65-fold greater than in either Chinese (22.9 +/- 18.3 mg/dl) or San (21.1 +/- 19.3 mg/dl). A strong inverse correlation was observed between apo[a] Mr and plasma Lp[a] concentration in Germans but this was much less pronounced in Ghanaians. While the mean plasma Lp[a] levels associated with polymorphs 1-6 were similar in both Germans (43.4 +/- 30.0 mg/dl) and Ghanaians (49.2 +/- 37.6 mg/dl), those Ghanaians with any combination of the polymorphs 9 and 10 had an almost 3-fold greater mean plasma Lp[a] level (20.6 +/- 11.3 mg/dl) than their German counterparts (7.8 +/- 5.7 mg/dl). It is therefore apparent that: 1) differences in apo[a] allele frequencies are not primarily responsible for differences in Lp[a] levels between populations; and 2) the greatest ethnic variation is observed in plasma Lp[a] concentrations associated with the high molecular weight apo[a] polymorphs.
authors.affiliation: Department of Clinical Chemistry, University Clinic, Göttingen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Helmhold
authors.forename: J
authors.initials: J
authors.lastname: Bigge
authors.forename: R
authors.initials: R
authors.lastname: Muche
authors.forename: J
authors.initials: J
authors.lastname: Mainoo
authors.forename: J
authors.initials: J
authors.lastname: Thiery
authors.forename: D
authors.initials: D
authors.lastname: Seidel
authors.forename: V W
authors.initials: VW
authors.lastname: Armstrong
mesh_terms: D000349:Africa / Q000208:ethnology; D000483:Alleles; D015153:Blotting, Western; D002681:China / Q000208:ethnology; D004591:Electrophoresis, Polyacrylamide Gel; D004797:Enzyme-Linked Immunosorbent Assay; D005006:Ethnicity / Q000235:genetics*; D005858:Germany / Q000208:ethnology; D005869:Ghana / Q000208:ethnology; D006801:Humans; D017270:Lipoprotein(a); D008074:Lipoproteins / Q000097:blood*; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D017270:Lipoprotein(a); D008074:Lipoproteins