Prevalence of the G20210A prothrombin gene mutation in Northwestern Greece and association with venous thromboembolism.
OBJECTIVE
The G20210A mutation of the prothrombin gene is a genetic risk factor for venous thromboembolism (VTE). Variability exists in the mutation prevalence in both normal individuals and VTE patients. The aim of this study was to determine the mutation prevalence in Northwestern Greece and evaluate its association with VTE.


METHODS
Presence of the G20210A mutation was investigated using DNA analysis in 176 consecutive patients with a history of venous thrombosis or pulmonary embolism and in 300 healthy controls, all Caucasian residents of Northwestern Greece.


RESULTS
The mutation was present 12 patients (6.8%) and 8 controls (2.7%). The odds ratio for presence of the mutation versus the normal genotype in VTE was 2.7 (95% CI: 1.1 to 6.7), which was statistically significant. The prevalence of the G20210A prothrombin gene mutation in Northwestern Greece is 2.7% (95% CI: 0.8% to 4.4%) with an allele frequency of 1.3% (95% CI: 0.4% to 2.3%).


CONCLUSIONS
The G20210A mutation of the prothrombin gene is associated with VTE in the Caucasian residents of this geographic region.
Zalavras
Ch G
ChG
Department of Orthopaedic Surgery, University Hospital of Ioannina, Ioannina, Greece.
Giotopoulou
S
S
Dokou
E
E
Mitsis
M
M
Ioannou
H V
HV
Tsaousi
C
C
Tzolou
A
A
Kolaitis
N
N
Vartholomatos
G
G
D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D020246:Venous Thrombosis / Q000453:epidemiology / Q000235:genetics*; D044465:White People / Q000235:genetics
D011516:Prothrombin