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

Myocardial infarction, susceptibility to

OMIM:608446
Mode of inheritance:Multifactorial
Disease classification:Diseases of the circulatory system


Polymorphisms

Gene symbolMTHFR
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases100 patients
Controls182 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C128 (64.0%)171 (73.1%)1
T72 (36.0%)87 (26.9%)1.35 (0.89-2.03)0.75
CC38 (38.0%)95 (52.2%)1
CT52 (52.0%) 76 (41.8%)1.71 (1.02-2.84)0.61
TT10 (10.0%)11 (6.0%)2.27 (0.88-5.82)0.64
ReferenceHmimech W, Idrissi HH, Diakite B, Baghdadi D, Korchi F, Habbal R, Nadifi S. Association of C677T MTHFR and G20210A FII prothrombin polymorphisms with susceptibility to myocardial infarction
Biomed Rep. 2016 Sep;5(3):361-366. Epub 2016 Jul 13.
Gene symbolF2
Reference transcriptNM_000506.4
DNA Changec.*97G>A
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs1799963
Cases100 patients
Controls182 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G121 (60.5%)182 (97.3%)1
A 79 (39.5%)0 (2.7%)238.83 (4.48–12581.7)<0.001
GG31 (31.0%)172 (94.5%)1
GA59 (59.0%)10 (5.5%)32.73 (15.11–69.71)<0.001
AA10 (10.0%)0 (0.0%)115 (1.75–7332)0.003
ReferenceHmimech W, Idrissi HH, Diakite B, Baghdadi D, Korchi F, Habbal R, Nadifi S. Association of C677T MTHFR and G20210A FII prothrombin polymorphisms with susceptibility to myocardial infarction
Biomed Rep. 2016 Sep;5(3):361-366. Epub 2016 Jul 13.