title: The factor V G1691A, factor V H1299R, prothrombin G20210A polymorphisms in children with family history of premature coronary artery disease.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Celal Bayar University, Manisa, Turkey. drdilekyilmaz@hotmail.com
authors.forename: Dilek Yilmaz
authors.initials: DY
authors.lastname: Ciftdoğan
authors.forename: Senol
authors.initials: S
authors.lastname: Coşkun
authors.forename: Cevval
authors.initials: C
authors.lastname: Ulman
authors.forename: Hakan
authors.initials: H
authors.lastname: Tikiz
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D050197:Atherosclerosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003324:Coronary Artery Disease / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D011516:Prothrombin / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D005165:Factor V; D011516:Prothrombin