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

• Type: Article in International Scientific Journal
• Date: 2008

Authors

Ferreira, H (Author) Other; Costa, E (Author) FFUP; Vieira, E (Author) Other; Barbot, J (Author) Other; Dos Santos, R (Author) Other

Journal

Title: International Journal of Laboratory Hematology

Vol. 30

Pages: 240-243

ISSN: 1751-5521

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 0 Citations

Scopus - 0 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-003-YVV

DOI: 10.1111/j.1751-553x.2007.00932.x

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4