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. 2013 Aug 29;30(10):1353–1359. doi: 10.1007/s10815-013-0071-5

Table 1.

The different genotypic frequencies of the ten thrombophilic gene mutations in case and control groups

Mutation Case (n = 89) Control (n = 50) P-valuea
Normal (%) Heterozygote (%) Homozygote (%) Normal (%) Heterozygote (%) Homozygote (%)
FV 1691G/Ab 97.75 2.25 0 100 0 0 0.536
FV HR2 4070 A/Gc 95.51 4.49 0 96 4 0 1.000
F II 20210 G/Ad 97.75 1.12 1.12 100 0 0 0.566
PAI-1 (-675 I/D, 5G/4G)e 29.21 55.05 15.73 30 56 14 0.963
ACE (intron 16 I/D)f 25.84 34.83 39.32 14 56 30 0.440
F VII (Gln353Arg)g 62.92 33.70 3.37 54 42 4 0.588
F XIII (Val34Leu)h 66.29 30.33 3.37 76 22 2 0.483
BF (-455G/A)i 50.56 42.69 6.74 48 48 4 0.718
G Ia (807C/T)j 31.46 56.17 12.35 36 38 26 0.056
tPA (intron 8 D/I)k 42.69 29.21 28.08 42 22 36 0.528

FV Factor V; FV HR2 Factor V-His1299 Arg; F II Factor II or Prothrombin; PAI-1 Plasminogen Activator Inhibitor-1; ACE Angiotansine Converting Enzume; F VII Factor VII; F XIII Factor XIII; BF beta fibrinogen; G Ia Glycoprotein Ia; tPA tissue Plasminogen Activator

aEvaluated by Pearson’s chi-squared test

bFV, at nucleotide position 1691 on the gene a G was exchanged by an A

cFV HR2, at nucleotide position 4070 on the gene an A was exchanged by a G

dF II, at nucleotide position 20210 on the gene a G was exchanged by an A

ePAI-1, at nucleotide position -675 on the gene promoter a GGGG was exchanged by a GGGGG

fACE, insertion/deletion of an Alu sequence of 287 bp in the intron 16 of the ACE gene

gF VII, at codon position 353 of the protein was converted a Gln to an Arg

hF XIII, at codon position 34 of the protein was converted a Val to a Leu

iBF, at nucleotide position -455 on the gene promoter a G was exchanged by an A

jG Ia, at nucleotide position 807 on the gene a C was exchanged by a T

ktPA, Alu-repeat insertion/deletion (I/D) in intron 8 of the tPA gene