Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)

Thrombosis Journal

Table 2 Allele and genotype frequencies for thrombotic risk factors and for warfarin pharmacogenetic variants in São Miguel population

Polymorphism	Allele	n^a	Freq.	Genotype	n^b	Freq.
Thrombotic risk variants in general population (N = 469)
*Factor V Leiden*
1691G>A	G	892	0.951	GG	423	0.902
	A	46	0.049	GA	46	0.098
				AA	0	0.000
*Prothrombin*
20210G>A	G	921	0.982	GG	453	0.966
	A	17	0.018	GA	15	0.032
				AA	1	0.002
*MTHFR*
677C>T	C	547	0.583	CC	162	0.345
	T	391	0.417	CT	223	0.475
				TT	84	0.179
1298A>C	A	705	0.752	AA	264	0.563
	C	233	0.248	AC	177	0.377
				CC	28	0.060
Warfarin pharmacogenetic variants in individuals with predisposition to thrombosis (N = 58)
*CYP2C9*
430C>T^c	C	98	0.845	1/1	35	0.603
	T	18	0.155	1/2	9	0.155
				2/2	2	0.035
1075A>C^c	A		0.897	1/3	7	0.121
	C	12	0.103	2/3	5	0.086
				3/3	0	0.000
*VKORC1*
1639G>A	G	66	0.569	GG	20	0.345
	A	50	0.431	GA	26	0.448
				AA	12	0.207

^a Number of chromosomes
^b Number of alleles
^c*1*1 (430CC/1075AA), *1*2 (430CT/1075AA), *1*3 (430CC/1075AC), *2*2 (430TT/1075AA), *2*3 (430CT/1075AC) and *3*3 (430CC/1075CC)

ISSN: 1477-9560