[Plasma lipoprotein (a) values in familial defective ligand apo B 100 in a South European population].
OBJECTIVE
1) to study lipoprotein (a) (Lp(a)) plasma values in subjects with familial ligand-defective apo B 100 (FDB).


METHODS
We studied 19 heterozygous FDB subjects (8 males) from 12 families, carriers of R3500Q mutation on apo B gene and 90 controls (34 males). The genetic diagnosis was established with PCR-SSCP analysis and automatic sequencing. In all subjects plasma lipids, apolipoprotein B and Lp(a) levels were determined with standard procedures.


RESULTS
Subjects carriers of R3500Q mutation on apo B gene have significantly higher plasma Lp(a) and log transformed Lp(a) values and prevalence of Lp(a) > 30 cut point for coronary heart disease than controls.


CONCLUSIONS
Subjects with FDB showed higher Lp(a) plasma values than controls, although the mechanism and the clinical consequences of these result are not known.
Ejarque
I
I
Servicio de Endocrinología y Nutrición, Hospital Clínico Universitario, Departamento de Medicina, Universidad de Valencia.
Leal
J T
JT
Ascaso
J F
JF
Chaves
F J
FJ
Milian
E
E
Priego
M A
MA
Carmena
R
R
D000328:Adult; D001055:Apolipoproteins B / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D017270:Lipoprotein(a) / Q000097:blood*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018110:Receptors, Lipoprotein / Q000235:genetics*; D013030:Spain
D001055:Apolipoproteins B; D017270:Lipoprotein(a); D018110:Receptors, Lipoprotein; C072413:apolipoprotein B receptor