Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR
Mj. Hessner et al., Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR, THROMB HAEM, 81(5), 1999, pp. 733-738
Individuals belonging to six racial groups (African American, Asian Indian,
Caucasian, Hispanic, Korean, Native American), and a seventh group compris
ed of referred patients with thrombosis were genotyped for the prothrombin
G20210A mutation, the factor V G1691A (Leiden) mutation, and the methylenet
etrahydrofolate reductase (MTHER) C677T mutation by multiplexed allele-spec
ific PCR. The prothrombin 20210A and factor V 1691A allele frequencies in t
he thrombosis patients, 3.2% and 9.5%, were significantly higher than those
in the random Caucasians, 1.3% and 1.8%, (p = 0.043 and p <0.001, respecti
vely). The relative risk of venous thrombosis was determined to be 2.4-fold
for carriers of the prothrombin 20210A allele (odds ratio = 2.54; 95% conf
idence interval = 0.94, 6.82) and 4.5-fold for carriers of the factor V 169
1A allele (odds ratio = 5.06; 95% confidence interval = 2.25, 11.36). Among
the seven populations, significant differences were observed in the MTHFR
677T allele distribution, however this mutation was not determined to be a
risk factor for venous thrombosis in the patient group studied, either alon
e or in combination with the prothrombin 20210A and/or the factor V 1691A a
llele(s).