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

MTHFR

Gene name: methylenetetrahydrofolate reductase (NAD(P)H)
OMIM ID: 607093
Chromosome location: 1p36.22

Polymorphisms

Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases282 diabetic patients
Controls262 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C417 (73.93%)350 (66.79%)1
T147 (26.06%)174 (33.20%)0.70 (0.54-0.95)0.009
CC106 (56.74%)114 (43.51%)
CT97 (34.90%)122 (46.56%)
TT25 (8.87%)26 (9.92%)
CommentsAn evident association between the MTHFR C677T polymorphism and T2DM in Moroccan patients.
ReferenceBenrahma H, Abidi O, Melouk L, Ajjemami M, Rouba H, Chadli A, Oudghiri M, Farouqui A, Barakat A. Association of the C677T Polymorphism in the Human Methylenetetrahydrofolate Reductase (MTHFR) Gene with the Genetic Predisposition for Type 2 Diabetes Mellitus in a Moroccan Population.
Genet Test Mol Biomarkers. 2012 May;16(5):383-7.
Disease/PhenotypeDiabetes mellitus, type 2 (T2DM), susceptibility to
Reference transcriptNM_005957.4
DNA Changec.1286A>C
A.A. Changep.Glu429Ala
Variation Typesubstitution
Reference SNPrs1801131
Cases282 diabetic patients
Controls262 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A451 (79.96%)394 (75.19%)1
C113 (20.0%)130 (24.81%)0.75 (0.57-1.01)0.058
AA180 (63.83%) 147 (56.10%)
AC91 (32.27%) 100 (38.17%)
CC11 (3.90%)15 (5.73%)
CommentsNo significant association with the MTHFR polymorphism and T2DM in Moroccan patients.
ReferenceBenrahma H, Abidi O, Melouk L, Ajjemami M, Rouba H, Chadli A, Oudghiri M, Farouqui A, Barakat A. Association of the C677T Polymorphism in the Human Methylenetetrahydrofolate Reductase (MTHFR) Gene with the Genetic Predisposition for Type 2 Diabetes Mellitus in a Moroccan Population.
Genet Test Mol Biomarkers. 2012 May;16(5):383-7.
Disease/PhenotypeIschemic stroke, susceptibility to
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.
Disease/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases 344 men with unexplained reduced sperm counts.
Controls690 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C523 (76.02%)988 (71.59%)
T165 (23.98%)392 (28.41%)0.7952 (0.6434-0.9807)0.03718
CC199 (57.85%)351 (50.87%)
CT125 (36.34%)286 (41.45%)0.8064 (0.6167-1.052)0.1298
TT20 (5.81%)53 (7.68%)0.7421 (0.4279-1.251)0.3293
CT+TT145 (42.15%) 339 (49.13%)0.7546 (0.5808-0.9794)0.04007
CommentsNo association of the C677T variant with infertility.
ReferenceEloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, Chadli E, Ajjemami M, Barakat A, Bashamboo A, McElreavey K, Rhaissi H, Rouba H.Association of the MTHFR A1298C variant with unexplained severe male infertility.
PLoS One. 2012;7(3):e34111.
Disease/PhenotypeSpermatogenic failure, susceptibility to.
Reference transcriptNM_005957.4
DNA Changec.1286A>C
A.A. Changep.Glu429Ala
Variation Typesubstitution
Reference SNPrs1801131
Cases89 Severe Oligozoospermia
Controls690 controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A131 (73.60%)1043 (75.58%)
C47 (26.40%)337 (24.42%)1.11 (0.773-1.577)0.6272
AA49 (55.06%)370 (53.62%)
AC33 (37.08%)303 (43.92%)0.7529 (0.4735-1.184)0.2674
CC7 (7.86%)17 (2.46%)3.372 (1.27-8.238)0.01431
AC+CC40 (44.94%)320 (46.38%)0.9439 (0.603-1.472)0.8869
CommentsThe genotype CC was present at a statistically high significance in severe oligozoospermia group compared with controls.
ReferenceEloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, Chadli E, Ajjemami M, Barakat A, Bashamboo A, McElreavey K, Rhaissi H, Rouba H.Association of the MTHFR A1298C variant with unexplained severe male infertility.
PLoS One. 2012;7(3):e34111.
Disease/PhenotypeCoronary artery disease, susceptibility to
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases210 subjects with CAD
Controls190 Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C280 (66.7%)287 (75.5%)1
T140 (33.3%)93 (24.5%)1.54 (1.11-1.84) 0.007
CC101 (48.1%)113 (59.5%)1
CT78 (37.1%)61 (32.1%)1.43 (0.93-2.20)0.102
TT31 (14.8%)16 (8.4%)2.17 (1.12-4.20)0.022
ReferenceBennouar N, Allami A, Azeddoug H, Bendris A, Laraqui A, El Jaffali A, El Kadiri N, Benzidia R, Benomar A, Fellat S, Benomar M.Thermolabile methylenetetrahydrofolate reductase C677T polymorphism and homocysteine are risk factors for coronary artery disease in Moroccan population.
J Biomed Biotechnol. 2007;2007(1):80687.
Disease/PhenotypeBreast cancer, susceptibility to
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases96 patients with breast cancer
Controls117 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C129 (0.67)179 (0.76)
T63 (0.33)55 (0.24)1.59 (1.04-2.44)0.03
CC39 (41%) 69 (59%)2.2 (1.24-3.86)0.007
CT51 (53%) 41 (35%)
TT6 (6%) 7 (6%)
CommentsThere was a significant association between MTHFR-C677T polymorphism and breast cancer risk.
ReferenceB Diakite, A Tazzite, K Hamzi, H Jouhadi, S NadifiMethylenetetrahydrofolate Reductase C677T polymorphism and breast cancer risk in Moroccan women
Afr Health Sci. 2012 Jun;12(2):204-9.
Disease/PhenotypeColorectal cancer
Reference transcriptNM_005957.4
DNA Changec.665C>T (C677T)
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases36 colorectal adenocarcinoma patients
Controls36 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C42 (58.3)58 (80.6)1
T30 (41.7)14 (19.4)2.96 (1.4-6.25)0.0045
CC10 (27.8%) 25 (69.4%)1
CT22 (61.1%)8 (22.2%)6.88 (2.30-20.49) 0.0005
TT4 (11.1%)3 (8.3%)3.33 (0.63-17.65)0.16
CommentsThere was a significant association between MTHFR-C677T polymorphism and colorectal cancer.
ReferenceB. Diakite, A. Benmoussa, K. Hamzi, H. Jouhadi, S. Nadifi Colorectal cancer and polymorphism of methylenetetrahydrofolate reductase (C677T) in Morocco
African Journal of Cancer July 2012
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_005957.4
DNA Changec.665C>T (C677T)
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases68 with Crohn’s disease
Controls182 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C69.9%72.8%1
T30.1%27.2%1.16 (0.75-1.78)0.51
CC48.5%51.6%1
CT42.6%42.83%1.07 (0.60-1.92)0.81
TT8.8%6.0%1.55 (0.53-4.53)0.42
ReferenceSenhaji N, Serbati N, Diakité B, Arazzakou S, Hamzi K, Badre W, Nadifi S.Methylenetetrahydrofolate reductase C677T variant in Moroccan patients with inflammatory bowel disease.
Gene. 2013 May 25;521(1):45-9.
Disease/PhenotypeInflammatory bowel disease (Crohn disease) 1
Reference transcriptNM_005957.4
DNA Changec.665C>T (C677T)
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases28 with ulcerative colitis
Controls182 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C78.6%72.8%1
T21.4%27.2%0.73 (0.37-1.44)0.36
CC60.7%51.6%1
CT35.7%42.83%0.72 (0.31-1.66)0.44
TT3.6%6.0%0.50 (0.06-4.15)0.52
ReferenceSenhaji N, Serbati N, Diakité B, Arazzakou S, Hamzi K, Badre W, Nadifi S.Methylenetetrahydrofolate reductase C677T variant in Moroccan patients with inflammatory bowel disease.
Gene. 2013 May 25;521(1):45-9.
Disease/PhenotypeMyocardial infarction, susceptibility to
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.
Disease/PhenotypeHypertension, susceptibility to
Reference transcriptNM_005957.4
DNA Changec.665C>T
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases101 patients
Controls102 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C134 (66%)153 (75%)1
T68 (34%)51 (25%)1.5 (1-2.3)0.06
CC47 (46.5%)54 (52.9%)1
CT40 (39.6%)45 (44.2%)1 (0.6-1.8)1
TT14 (13.9%)3 (2.9%)5.4 (1.4-19.8)0.008
ReferenceNassereddine S, Kassogue Y, Korchi F, Habbal R, Nadifi S. Association of methylenetetrahydrofolate reductase gene (C677T) with the risk of hypertension in Morocco.
BMC Res Notes. 2015 Dec 12;8:775. doi: 10.1186/s13104-015-1772-x.