title: Single nucleotide polymorphisms in the apo(a) kringle IV type 8 domain are not associated with atherothrombotic serum lipoprotein (a) concentration, in a Portuguese paediatric population.
abstract: Lipoprotein (a) (Lp[a]) is a complex of apolipoprotein (a) (apo[a]) and low-density lipoprotein (LDL), associated with atherothrombotic disease. Most of the interindividual variations in plasma levels of Lp(a) can be attributed to sequence differences linked to the apo(a) gene locus. The aim of this study was to investigate a possible link between single nucleotide polymorphisms (SNPs) in the apo(a) kringle (K) IV type 8 domain and atherothrombotic serum Lp(a) concentrations. Direct sequencing of the two exons and flanking intronic sequences of the apo(a) K IV type 8 domain was performed in a group of 97 paediatric patients, 51 with serum Lp(a) concentration above and 46 with concentration below 30 mg/dl,. We found three SNPs, two in exon 1 (c.66A>C and c.133G>A) and one in intron 1 (c.160+1G>A). The c.66A>C polymorphism was the most common with a heterozygosity frequency of 15.46%. The c.133G>A and c.160+1G>A polymorphisms were found at a frequency of 5.15% and 1.03%, respectively. No statistically significant difference was found in the genotype distribution between the two groups of patients. Our results suggest that these SNPs in the apo(a) K IV 8 domain are not directly associated with atherothrombotic serum Lp(a) concentration in our population.
authors.affiliation: Serviço de Pediatria do Hospital de Crianças Maria Pia, Maria Pia, Portugal.
authors.forename: H
authors.initials: H
authors.lastname: Ferreira
authors.forename: E
authors.initials: E
authors.lastname: Costa
authors.forename: E
authors.initials: E
authors.lastname: Vieira
authors.forename: J
authors.initials: J
authors.lastname: Barbot
authors.forename: R
authors.initials: R
authors.lastname: Dos Santos
mesh_terms: D000293:Adolescent; D001054:Apolipoproteins A / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013923:Thromboembolism / Q000235:genetics*
chemical_list: D001054:Apolipoproteins A