title: Evaluation of Factor V G1691A, prothrombin G20210A, Factor XIII V34L, MTHFR A1298C, MTHFR C677T and PAI-1 4G/5G genotype frequencies of patients subjected to cardiovascular disease (CVD) panel in south-east region of Turkey.
abstract: Cardiovascular disease (CVD) risk factors, such as arterial hypertension, obesity, dyslipidemia or diabetes mellitus, as well as CVDs, including myocardial infarction, coronary artery disease or stroke, are the most prevalent diseases and account for the major causes of death worldwide. In the present study, 4,709 unrelated patients subjected to CVD panel in south-east part of Turkey between the years 2010 and 2013 were enrolled and DNA was isolated from the blood samples of these patients. Mutation analyses were conducted using the real-time polymerase chain reaction method to screen six common mutations (Factor V G1691A, PT G20210A, Factor XIII V34L, MTHFR A1298C and C677T and PAI-1 -675 4G/5G) found in CVD panel. The prevalence of these mutations were 0.57, 0.25, 2.61, 13.78, 9.34 and 24.27 % in homozygous form, respectively. Similarly, the mutation percent of them in heterozygous form were 7.43, 3.44, 24.91, 44.94, 41.09 and 45.66%, respectively. No mutation was detected in 92 (1.95%) patients in total. Because of the fact that this is the first study to screen six common mutations in CVD panel in south-east region of Turkey, it has a considerable value on the diagnosis and treatment of these diseases. Upon the results of the present and previous studied a careful examination for these genetic variants should be carried out in thrombophilia screening programs, particularly in Turkish population.
authors: Department of Medical Biology, Faculty of Medicine, University of Gaziantep, 27310, Şehitkamil, Gaziantep, Turkey, serdaroztuzcu@gmail.com.
authors: Serdar
authors: S
authors: Oztuzcu
authors: Sercan
authors: S
authors: Ergun
authors: Mustafa
authors: M
authors: Ulaşlı
authors: Gülper
authors: G
authors: Nacarkahya
authors: Yusuf Ziya
authors: YZ
authors: Iğci
authors: Mehri
authors: M
authors: Iğci
authors: Recep
authors: R
authors: Bayraktar
authors: Ali
authors: A
authors: Tamer
authors: Ecir Ali
authors: EA
authors: Çakmak
authors: Ahmet
authors: A
authors: Arslan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002318:Cardiovascular Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D014421:Turkey
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D005165:Factor V; D011516:Prothrombin; D005176:Factor XIII; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)