Factor V Leiden and prothrombin gene mutations in Egyptian cases with unexplained recurrent pregnancy loss

Figures & data

Figure 1. Amplification of FVL (above) and FII (down) using primers for mutant A alleles (lanes 1, 3, and 5) and normal G allele (lanes 2, 4, and 6) showing positive bands of size 152 bp for FVL and 340 bp for FII, whereas the 250 bp band corresponds to amplified segment of FIX serving as internal control. Lane M corresponds to DNA size marker and lane 7 to the negative control.

Table 1. Frequencies of FVL and FII gene polymorphic genotypes and alleles among cases of pregnancy loss compared to controls

Genotype	Case (n = 72) (%)	Control (n = 70) (%)	P	OR (95% CI)
FVL genotype
GG	54 (75)	69 (98·57)	<0·0001*	0·04 (0·0–0·34)
GA	17 (23·61)	1 (1·43)	<0·0001*	21·38 (2·75–165·37)
AA	1(1·39)	0 (0)	1	2·96 (0·12–73·91)
FVL allele
A	19 (13·19)	1(0·71)	<0·0001*	21·13 (2·79–160·2)
G	125 (86·81)	139 (99·29)	<0·0001*	0·05 (0·0–0·36)
FII genotype
GG	45 (62·5)	69 (98·57)	<0·0001*	0·02 (0·0–0·18)
GA	25 (34·72)	1(1·43)	<0·0001*	36·7 (4·8–280·39)
AA	2 (2·78)	0 (0)	0·50	5 (0·24–106·11)
FII allele
A	29 (20·14)	1 (0·71)	<0·0001*	35·05 (4·7–261·4)
G	115 (79·86)	139 (99·29)	<0·0001*	0·03 (0·0–0·21)

Note: OR: odds ratio; CI: confidence intervals.

*P<0·0001, highly significant.

Table 2. Association of potential risk factors related to recurrent abortions and individual cases FVL and FII combined genotypes

Parameter	Both normal, n (%)	Normal FVL and mutant FII, n (%)	Mutant FVL and normal FII, n (%)	Both mutant, n (%)	P
Positive smoking	9 (37·5)	10 (41·7)	2 (8·3)	3 (12·5)	>0·05
Positive TORCH antibodies	9 (40·9)	7 (31·8)	3 (13·6)	3 (13·6)	>0·05
Rhesus negative blood group	5 (62·5)	1 (12·5)	1 (12·5)	1 (12·5)	>0·05
Positive anti‐phospholipid and anti‐cardiolipin antibodies	6 (50·0)	4 (33·3)	1 (8·3)	1( 8·3)	>0·05
No or one risk factor	30 (51·7)	14 (24·1)	12 (20·7)	2 (3·4)	<0·05*
Two or more risk factors	4 (28·6)	6 (42·9)	1 (7·1)	3 (21·4)

Note: Both normal: FVL and FII genotypes are GG; normal FVL and mutant FII: FVL GG and FII either GA or AA; mutant FVL and normal FII: FVL either AG or AA and FII GG; both mutants: FVL either AG or AA with FII genotypes either AG or AA.

*P<0·05, significant.

Table 3. Association of combined FVL and FII gene mutations related to infertility, number of abortions, and stage of pregnancy in which abortion occurred

Parameter	Both normal, n (%)	Normal FVL and mutant FII, n (%)	Mutant FVL and normal FII, n (%)	Both mutant, n (%)	P
Total subject
Case	33 (45·8)	21 (29·2)	12 (16·7)	6 (8·3)	<0·001*
Control	68 (97·1)	1 (1·4)	1 (1·4)	0 (0·0)
Infertility
Primary	6 (37·5)	8 (50·0)	1 (6·3)	1 (6·3)	>0·05
Secondary	28 (50·0)	12 (21·4)	12 (21·4)	4 (7·1)
No. of fetal loss
⩽4 times	18 (50·0)	9 (25·0)	7 (19·4)	2 (5·6)	>0·05
>4 times	16 (44·4)	11 (30·6)	6 (16·7)	3 (8·3)
Stage of pregnancy
First or second trimester	21 (46·7)	13 (28·9)	7 (15·6)	4 (8·9)	>0·05
Third trimester	3 (37·5)	3 (37·5)	1 (12·5)	1 (12·5)
Mixed	9 (47·4)	5 (26·3)	4 (21·1)	1 (5·3)

Note: Both normal: FVL and FII genotypes are GG; normal FVL and mutant FII: FVL GG and FII either GA or AA; mutant FVL and normal FII: FVL either AG or AA and FII GG; both mutants: FVL either AG or AA with FII genotypes either AG or AA.

*P<0·001, significant.