J 2003

Polymorphisms in the apolipoprotein(a) gene, plasma Lp(a) and cardiovascular risk

BENEŠ, Petr

Basic information

Original name

Polymorphisms in the apolipoprotein(a) gene, plasma Lp(a) and cardiovascular risk

Authors

BENEŠ, Petr (203 Czech Republic, guarantor)

Edition

HeartDrug, Basel, Switzerland, Karger, 2003, 1422-9528

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

Switzerland

Confidentiality degree

není předmětem státního či obchodního tajemství

RIV identification code

RIV/00216224:14310/03:00009102

Organization unit

Faculty of Science

Keywords in English

Apolipoprotein(a); lipoprotein(a); genetic polymorphism; cardiovascular risk

Tags

Změněno: 16/2/2004 10:56, doc. Mgr. Petr Beneš, Ph.D.

Abstract

V originále

Increased plasma concentration of lipoprotein(a) [Lp(a)] represents an established risk factor for coronary artery disease. Plasma Lp(a) level is relatively stable during life and it is more than 90% genetically determined by the apolipoprotein(a) [apo(a)] gene. Numerous polymorphisms have been identified in the apo(a) gene. The extreme apo(a) protein size polymorphism, based on variable number of so-called kringle IV type 2 repeats (KIV-2), accounts for a large portion of variability of plasma Lp(a) levels. Moreover, it has been shown that several other apo(a) sequence changes, both in the coding and regulatory sequences, influence plasma Lp(a) levels and/or Lp(a) prothrombogenic properties. Associations between some of them and the increased risk of coronary artery disease have also been reported. However, the existence of strong linkage disequilibria in the apo(a) locus represents a serious problem to identify a real effect of single polymorphism on Lp(a) phenotype. Large and complex association and family studies in different populations, together with in vitro expression and functional studies, should clarify the importance of so far identified positive apo(a) polymorphism - plasma Lp(a) associations in the future. In addition, standardization of measurement of Lp(a) is necessary to allow a comparability of results obtained with different immunoassays.

Links

MSM 141100002, plan (intention)
Name: Molekulární patofyziologie multigenních chorob
Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases
MSM 143100008, plan (intention)
Name: Genomy a jejich funkce
Investor: Ministry of Education, Youth and Sports of the CR, Genomes and their functions