The factor V G1691A, factor V H1299R, prothrombin G20210A polymorphisms in children with family history of premature coronary artery disease

• Published in: Coronary artery disease Vol. 20; no. 7; p. 435
• Main Authors: Ciftdoğan, Dilek Yilmaz, Coşkun, Senol, Ulman, Cevval, Tikiz, Hakan
• Format: Journal Article
• Language: English
• Published: England 01.11.2009
• Subjects: Adolescent; Age of Onset; Atherosclerosis - blood; Atherosclerosis - epidemiology; Atherosclerosis - genetics; Case-Control Studies; Child; Child, Preschool; Coronary Artery Disease - blood; Coronary Artery Disease - epidemiology; Coronary Artery Disease - genetics; Factor V - genetics; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Male; Mutation; Pedigree; Polymorphism, Genetic; Prothrombin - genetics; Risk Assessment; Risk Factors
• ISSN: 1473-5830
• DOI: 10.1097/MCA.0b013e32832bdb8c

Atherosclerosis, the major cause of coronary artery disease (CAD), has a very long asymptomatic development phase, which begins in childhood. In this study, we describe the factor V G1691A, factor V H1299R and prothrombin G20210A gene polymorphisms in children with a family history of premature CAD. Evidence of these polymorphisms in these children may predict the probability of having atherosclerosis in the future. Our study included a total of 140 children, 72 males and 68 females between the ages of 4.9 and 15.7 years. Among these children, 73 had a parental history of premature CAD and the remaining 67 belonged to our control group. The participants were screened for the mutations factor V G1691A, factor V H1299R and prothrombin G20210A by polymerase chain reaction amplified DNA products with specific oligonucleotide probes. Our results suggested that frequencies of the mutated allele of factor V G1691A and prothrombin G20210A are higher in children with a parental history of premature CAD. In conclusion, factor V G1691A and prothrombin G20210A polymorphisms which were detected in higher frequencies in children with a parental history of premature CAD may indicate a risk for developing atherosclerosis and might be useful in screening for CAD in children; however, large population-based research is necessary to investigate further genetic risk assessment for CAD.