Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ischemic stroke, susceptibility to

OMIM:601367
Mode of inheritance:Multifactorial
Disease classification:Diseases of the circulatory system


Polymorphisms

Gene symbolF2
Reference transcriptNM_000506.3
DNA Changec.*97G>A
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs1799963
Cases91 patients
Controls182 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G94% 97,3%1
A6%2.7% 2.3(0.58-8.9)
GG87,9%94,5% 1
GA12.1%5.5%2.3(0.97-5.7)0.054
AA00
CommentsNo significant association was found between F2-G20210A polymorphism with stroke,
ReferenceThey-They TP, Battas O, Slassi I, Rafai MA, Katumbay DT, Nadifi S. Prothrombin G20210A and factor V Leiden polymorphisms in stroke.
J Mol Neurosci. 2012 Jan;46(1):210-6.
Gene symbolMTHFR
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases42 Atherothrombotic
Controls182 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C0.440.272.16 (1.17-3.8) 0.012
T0.560.73
TT/CTvsCC28 (66.7%)87 (47.8%)2.2 (1.08-4.4)0.030
TT vs CC9 (39.1%)11 (10.4%)5.5 (1.95-15.8)0.001
CT vs CC 19 (57.6%) 76 (44.4%) 1.69 (0.8-3.6)0.169
CommentsThe results shown statistically significant association of T allele carriers genetic factors with atherothrombotic,
ReferenceThey-They TP, Nadifi S, Rafai MA, Battas O, Slassi I. Methylenehydrofolate reductase (C677T) polymorphism and large artery ischemic stroke subtypes.
Acta Neurol Scand. 2011 Feb;123(2):105-10.
Gene symbolNOS3
Reference transcriptNM_000603.4
DNA Changec.894T>G
A.A. Changep.Asp298Glu
Exon/Intronexon 8
Variation Typesubstitution
Reference SNPrs1799983
Cases165
Controls182
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G70.3%80.2%1
T29.7%19.8%1.71 (1.21-2.43) 0.003
GG50.3%64.3%1
GT40.0%31.9%1.60 (1.02-2.52)0.040
TT8.0%3.8%3.22 (1.27-8.18)0.014
GT + TT46.7%35.7%1.78 (1.16-2.73)0.009
ReferenceDiakite B, Hamzi K, Slassi I, El Yahyaoui M, El Alaoui MM, Habbal R, Sellama N; GMRAVC.G894T endothelial nitric oxide synthase polymorphism and ischemic stroke in Morocco.
Meta Gene. 2014 May 7;2:349-57.
Gene symbolNOS3
Reference transcriptNM_000603.4
DNA Changec.894T>G
A.A. Changep.Asp298Glu
Exon/Intronexon 8
Variation Typesubstitution
Reference SNPrs1799983
Cases118 MI patients
Controls184 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T170 (72,03%)294 (79,89%)1
G66 (27,97%)74 (20,11%)1.54 (1.06-2.23)0.001
TT60 (50,85%)116 (63,04%)1
TG50 (42,37%)62 (33,69%)1,55 (0,97-2,48)0,02
GG8 (6,78%)6 (3,27%)2,57 (0,87-7,52)0,01
ReferenceHassani Idrissi H, Hmimech W, Diakite B, Korchi F, Baghdadi D, Habbal R, Nadifi S. Association of G894T eNOS, 4G/5G PAI and T1131C APOA5 polymorphisms with susceptibility to myocardial infarction in Morocco.
Meta Gene. 2016 Apr 3;9:56-61. doi: 10.1016/j.mgene.2016.03.004. eCollection 2016.
Gene symbolAPOA5
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases175 patients
Controls201 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T255 (72.9%)326 (81.1%)1
C95 (27.1%)76 (18.9%)1.54 (1.01-2.33)0.007
TT99 (56.6%)134 (66.7%)1
TC 57 (32.6%)58 (28.8%)1.33 (0.85-2.08)0.212
CC19 (10.9%)9 (4.5%)2.86 (1.24-6.58)0.013
ReferenceDiakite B, Hamzi K, Hmimech W, Nadifi S; GMRAVC. Genetic polymorphisms of T-1131C APOA5 and ALOX5AP SG13S114 with the susceptibility of ischaemic stroke in Morocco.
J Genet. 2016 Jun;95(2):303-9.
Gene symbolAPOA5
Reference transcriptNM_052968.4
DNA Change-1131T>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs662799
Cases118 MI patients
Controls184 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T137 (58,05%)262 (71,19%)1
C99 (41,95%)106 (28,81%)1,78 (1,26-2,51)0.03
TT34 (28,81%)94 (51,08%)1
TC69 (58,47%)74 (40,21%)2,57 (1,56-4,17)0,3
CC15 (12,72%)16 (8,71%)2,60 (1,18-5,66)0,03
ReferenceHassani Idrissi H, Hmimech W, Diakite B, Korchi F, Baghdadi D, Habbal R, Nadifi S. Association of G894T eNOS, 4G/5G PAI and T1131C APOA5 polymorphisms with susceptibility to myocardial infarction in Morocco.
Meta Gene. 2016 Apr 3;9:56-61. doi: 10.1016/j.mgene.2016.03.004. eCollection 2016.
Gene symbolALOX5AP
Reference transcriptNM_001204406.1
DNA Changec.241+2284A>T (SG13S114)
A.A. Change
Exon/Intronintron 2
Variation Typesubstitution
Reference SNPrs10507391
Cases175 patients
Controls201 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A229 (65.4%)302 (75.1%)1
T121 (34.6%)100 (24.9%)1.59 (1.16-2.19) 0.004
AA89 (50.9%)119 (59.2%)1
AT51 (29.1%)64 (31.8%)1.06 (0.67-1.68)0.786
TT35 (20.0%)18 (9.0%)2.57 (1.49-4.83)0.003
ReferenceDiakite B, Hamzi K, Hmimech W, Nadifi S; GMRAVC. Genetic polymorphisms of T-1131C APOA5 and ALOX5AP SG13S114 with the susceptibility of ischaemic stroke in Morocco.
J Genet. 2016 Jun;95(2):303-9.
Gene symbolSERPINE1
Reference transcriptNM_000602.4
DNA Changec.-820_-817G(4_5)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typeindel
Reference SNPrs587776796
Cases118 MI patients
Controls184 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
5G86 (36,45%)195 (52,98%)1
4G150 (63,55%)173 (47,02%)1,96 (1,4-2,72)0.03
5G/5G9 (7,64%)73 (39,68%)1
4G/5G68 (57,62%)49 (26,63%)11,2 (8,3-15,08)< 0.001
4G/4G41 (34,74%)62 (33,69%)5,36 (3,8-7,2)< 0.001
ReferenceHassani Idrissi H, Hmimech W, Diakite B, Korchi F, Baghdadi D, Habbal R, Nadifi S. Association of G894T eNOS, 4G/5G PAI and T1131C APOA5 polymorphisms with susceptibility to myocardial infarction in Morocco.
Meta Gene. 2016 Apr 3;9:56-61. doi: 10.1016/j.mgene.2016.03.004. eCollection 2016.