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A Journal on Angiology

Official Journal of the International Union of Angiology, the International Union of Phlebology and the Central European Vascular Forum
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,899

Frequency: Bi-Monthly

ISSN 0392-9590

Online ISSN 1827-1839


International Angiology 2002 December;21(4):322-9


Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population

Xenophontos S. L. 1, Hadjivassiliou M. 1, Ayrton N. 1, Karagrigoriou A. 2, Pantzaris M. 3, Nicolaides A. N. 3, Cariolou M. A. 1

1 Molecular Genetics Department-B and Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
2 Department of Mathematics and Statistics, University of Cyprus, Nicosia, Cyprus
3 Deparment of Neurovascular Sciences and Clinical Cardiovascular Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

Background. This study was per­formed to estab­lish the ­allele, gen­o­type and gen­o­type com­bi­na­tion/SNP (sin­gle nucle­o­tide poly­mor­phism) pro­file fre­quen­cies in the gen­er­al pop­u­la­tion of Cyprus for 6 genes impli­cat­ed in throm­bot­ic dis­or­ders. The genes with their respec­tive func­tion­al poly­mor­phisms were the fol­low­ing: fac­tor V (G1691A), pro­throm­bin/fac­tor II (G20210A), meth­yl­enet­e­tra­hy­drof­o­late reduc­tase (C677T), plate­let gly­co­pro­tein recep­tor IIIa (P1A1/A2), β-fibrino­gen (G/A-455) and plas­mi­no­gen acti­va­tor inhib­i­tor-type 1 (4G/5G).
Methods. DNA sam­ples from 121 unre­lat­ed indi­vid­u­als were used for this epi­dem­i­olog­i­cal study. The poly­me­rase chain reac­tion fol­lowed by restric­tion diges­tion were used to gen­o­type the 6 dif­fer­ent poly­mor­phic loci. Allele and gen­o­type fre­quen­cies were estab­lished and shown to be in Hardy-Weinberg equi­lib­ri­um.
Results. Mutant ­allele fre­quen­cies for the 6 genes were as fol­lows: fac­tor V-4%, pro­throm­bin-2%, meth­yl­enet­e­tra­hy­drof­o­late reduc­tase -39%, plate­let gly­co­pro­tein recep­tor IIIa-16%, β-fibrino­gen-17% and plas­mi­no­gen acti­va­tor inhib­i­tor — type 1-46%. Combined ­defects ­occurred which may ­increase the risk for vas­cu­lar ­events, 33% of indi­vid­u­als (39/118) had 3 or more of the above muta­tions.
Conclusions. As in other European pop­u­la­tions, pros­pec­tive case-con­trol stud­ies to esti­mate the risk for deep vein throm­bo­sis (DVT) and ischem­ic epi­sodes with ­respect to genet­ic and envi­ron­men­tal risk fac­tors ­should be per­formed. Thrombophilia screen­ing ­should be ­applied for pri­mary and sec­on­dary pre­ven­tion of throm­bot­ic epi­sodes in sus­cep­ti­ble indi­vid­u­als on the ­island of Cyprus. Individuals tar­get­ed for such screen­ing ­include those with the fol­low­ing: a pos­i­tive fam­i­ly his­to­ry for throm­bo­sis; a pre­vi­ous DVT or other ischem­ic epi­sode; prior expo­sure to cir­cum­stan­tial risk fac­tors and in the pres­ence of echol­u­cent ­plaques.

language: English


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