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Gene id 4524
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol MTHFR   Gene   UCSC   Ensembl
Gene name methylenetetrahydrofolate reductase
Alternate names methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H),
Gene location 1p36.22 (11806102: 11785729)     Exons: 13     NC_000001.11
Gene summary(Entrez) The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vas
OMIM 607093

SNPs
rs55763075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11790377C>T
NC_000001.10   g.11850434C>T
NG_013351.1   g.20727G>A
NM_005957.5   c.*303G>A
NM_005957.4   c.*303G>A
NM_001330358.1   c.*303G>A
XM_005263460.5   c.*303G>A
XM_005263460.1   c.*303G>A
XM_005263463.4   c.*303G>A
XM_005263463.1   c.*303G>A
XM_0  

rs1801131

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.11794419T>G
NC_000001.10   g.11854476T>G
NG_013351.1   g.16685A>C
NM_005957.5   c.1286A>C
NM_005957.4   c.1286A>C
NM_001330358.1   c.1409A>C
XM_005263460.5   c.1286A>C
XM_005263460.1   c.1286A>C
XM_005263463.4   c.1040A>C
XM_005263463.1   c.1040A>C
XM_0  

rs2477686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.2461209G>C
NC_000001.10   g.2392648G>C
NT_187515.1   g.12399G>C|SEQ=[G/C]|GENE=PLCH2

Protein Summary
Protein general information P42898  

Name: Methylenetetrahydrofolate reductase (EC 1.5.1.20)

Length: 656  Mass: 74,597

Sequence MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVN
LISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGL
KNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFI
ITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIE
LAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYI
YRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKV
TCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEAL
LQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYE
EESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP
Structural information
Interpro:  IPR029041  IPR004621  IPR003171  
CDD:   cd00537
MINT:  
STRING:   ENSP00000365775
Other Databases GeneCards:  MTHFR  Malacards:  MTHFR

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0001666 response to hypoxia
 IEA biological process
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IGI molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IMP molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IMP molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 TAS molecular function
GO:0005829 cytosol
 IBA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006520 cellular amino acid metab
olic process
 TAS biological process
GO:0006555 methionine metabolic proc
ess
 IGI biological process
GO:0008015 blood circulation
 TAS biological process
GO:0031060 regulation of histone met
hylation
 IDA biological process
GO:0032403 protein complex binding
 IPI molecular function
GO:0033274 response to vitamin B2
 IEA biological process
GO:0035999 tetrahydrofolate intercon
version
 IEA biological process
GO:0035999 tetrahydrofolate intercon
version
 IGI biological process
GO:0035999 tetrahydrofolate intercon
version
 IDA biological process
GO:0035999 tetrahydrofolate intercon
version
 IMP biological process
GO:0035999 tetrahydrofolate intercon
version
 IMP biological process
GO:0042493 response to drug
 IEA biological process
GO:0043005 neuron projection
 IEA cellular component
GO:0046500 S-adenosylmethionine meta
bolic process
 IEA biological process
GO:0046655 folic acid metabolic proc
ess
 TAS biological process
GO:0050660 flavin adenine dinucleoti
de binding
 IDA molecular function
GO:0050661 NADP binding
 IEA molecular function
GO:0050667 homocysteine metabolic pr
ocess
 IDA biological process
GO:0051593 response to folic acid
 IEA biological process
GO:0055114 oxidation-reduction proce
ss
 IEA biological process
GO:0070555 response to interleukin-1
 IEA biological process
GO:0070829 heterochromatin maintenan
ce
 IDA biological process
GO:0072341 modified amino acid bindi
ng
 IDA molecular function
GO:0001666 response to hypoxia
 IEA biological process
GO:0003824 catalytic activity
 IEA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IEA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IEA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IEA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IGI molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IMP molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IMP molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 TAS molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 TAS molecular function
GO:0005829 cytosol
 IEA cellular component
GO:0005829 cytosol
 IBA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006520 cellular amino acid metab
olic process
 TAS biological process
GO:0006555 methionine metabolic proc
ess
 IEA biological process
GO:0006555 methionine metabolic proc
ess
 IGI biological process
GO:0008015 blood circulation
 TAS biological process
GO:0008152 metabolic process
 IEA biological process
GO:0016491 oxidoreductase activity
 IEA molecular function
GO:0031060 regulation of histone met
hylation
 IDA biological process
GO:0032403 protein complex binding
 IPI molecular function
GO:0033274 response to vitamin B2
 IEA biological process
GO:0035999 tetrahydrofolate intercon
version
 IEA biological process
GO:0035999 tetrahydrofolate intercon
version
 IGI biological process
GO:0035999 tetrahydrofolate intercon
version
 IDA biological process
GO:0035999 tetrahydrofolate intercon
version
 IMP biological process
GO:0035999 tetrahydrofolate intercon
version
 IMP biological process
GO:0042493 response to drug
 IEA biological process
GO:0043005 neuron projection
 IEA cellular component
GO:0043200 response to amino acid
 IEA biological process
GO:0046500 S-adenosylmethionine meta
bolic process
 IEA biological process
GO:0046653 tetrahydrofolate metaboli
c process
 IEA biological process
GO:0046655 folic acid metabolic proc
ess
 TAS biological process
GO:0050660 flavin adenine dinucleoti
de binding
 IEA molecular function
GO:0050660 flavin adenine dinucleoti
de binding
 IDA molecular function
GO:0050661 NADP binding
 IEA molecular function
GO:0050667 homocysteine metabolic pr
ocess
 IEA biological process
GO:0050667 homocysteine metabolic pr
ocess
 IDA biological process
GO:0051593 response to folic acid
 IEA biological process
GO:0055114 oxidation-reduction proce
ss
 IEA biological process
GO:0055114 oxidation-reduction proce
ss
 IEA biological process
GO:0070555 response to interleukin-1
 IEA biological process
GO:0070829 heterochromatin maintenan
ce
 IDA biological process
GO:0072341 modified amino acid bindi
ng
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IGI molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IMP molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IDA molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 IMP molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 TAS molecular function
GO:0004489 methylenetetrahydrofolate
reductase (NAD(P)H) acti
vity
 TAS molecular function
GO:0005829 cytosol
 IBA cellular component
GO:0005829 cytosol
 TAS cellular component
GO:0006520 cellular amino acid metab
olic process
 TAS biological process
GO:0006555 methionine metabolic proc
ess
 IGI biological process
GO:0008015 blood circulation
 TAS biological process
GO:0031060 regulation of histone met
hylation
 IDA biological process
GO:0032403 protein complex binding
 IPI molecular function
GO:0035999 tetrahydrofolate intercon
version
 IGI biological process
GO:0035999 tetrahydrofolate intercon
version
 IDA biological process
GO:0035999 tetrahydrofolate intercon
version
 IMP biological process
GO:0035999 tetrahydrofolate intercon
version
 IMP biological process
GO:0046655 folic acid metabolic proc
ess
 TAS biological process
GO:0050660 flavin adenine dinucleoti
de binding
 IDA molecular function
GO:0050667 homocysteine metabolic pr
ocess
 IDA biological process
GO:0070829 heterochromatin maintenan
ce
 IDA biological process
GO:0072341 modified amino acid bindi
ng
 IDA molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa01100Metabolic pathways
hsa01200Carbon metabolism
hsa01523Antifolate resistance

Diseases

Expand All | Collapse All
Associated diseases References
Leukemia GAD: 12958073
Cancer GAD: 20056627
Cancer (Adenocarcinoma) GAD: 18351371
Cancer (Adenoma) GAD: 18768511
Cancer (bladder) GAD: 16343742
Cancer (brain) GAD: 17119065
Cancer (Burkitt lymphoma) GAD: 16944145
Cancer (Central nervous system) GAD: 18406541
Cancer (cervical) GAD: 13678724
Cancer (cholangiocarcinoma) GAD: 17201138
Cancer (chondrosarcoma) GAD: 18498722
Cancer (Chronic B-Cell Leukemias) GAD: 15385937
Cancer (colon) GAD: 20551579
Cancer (colorectal) GAD: 15308044
Cancer (endometrial) GAD: 17301261
Cancer (epithelial ovarian) GAD: 19064572
Cancer (esophageal) GAD: 15231206
Cancer (gastric) GAD: 14652285
Cancer (glaucoma) GAD: 17618244
Cancer (head and neck) GAD: 20819778
Cancer (Hematologic) GAD: 18774170
Cancer (Hepatocellular) GAD: 18336674
Cancer (kidney) GAD: 19346876
Cancer (large cell lymphoblastic lymphoma) GAD: 16463153
Cancer (laryngeal) GAD: 15949101
Cancer (leukemia) GAD: 14647408
Cancer (liver) GAD: 16556414
Cancer (lung) GAD: 9625844
Cancer (lymphoma) GAD: 15198953
Cancer (mouth) GAD: 11925474
Cancer (myeloma) GAD: 17546637
Cancer (nasopharyngeal) GAD: 20721969
Cancer (non-Hodgkin lymphoma) GAD: 16365025
Cancer (non-melanoma skin cancer) GAD: 15914210
Cancer (ovarian) GAD: 20817226
Cancer (pancreatic) GAD: 16234002
Cancer (prostate) GAD: 19064578
Cancer (rectal) GAD: 20504250
Cancer (Renal cell) GAD: 20039875
Cancer (retinal) GAD: 20310006
Cancer (Squamous cell) GAD: 18662591
Cancer (stomach) GAD: 15231125
Cancer (urologic) GAD: 18930278
Chondrosarcoma GAD: 18498722
Cancer (breast) GAD: 15312365
Aortic aneurysm GAD: 12590185
Aortic valve stenosis GAD: 11470464
Apoplexy GAD: 20161734
Arterial Occlusive Diseases GAD: 18800176
Atherosclerosis GAD: 12569666
Hypertension GAD: 18622257
Deep venous thrombosis GAD: 12951177
Intracranial aneurysm GAD: 18799873
Brain ischemia GAD: 18387982
Budd-Chiari syndrome GAD: 17100732
Buerger's disease GAD: 17000887
Cardiovascular disease GAD: 9350916
Carotid artery diseases GAD: 11558898
Cerebral hemorrhage GAD: 15829163
Cerebral infarction GAD: 17016617
Cerebrovascular disease GAD: 11388660
Phlebitis GAD: 18387654
Microvascular angina GAD: 17491230
Peripheral vascular disease GAD: 19435865
Restenosis GAD: 12899665
Thrombosis GAD: 20017223
Thrombosis GAD: 14689519
Thrombosis GAD: 19520684
Vascular disease GAD: 607093
Venous thromboembolism GAD: 12384649
Venous thrombosis GAD: 9609218
Thromboembolism OMIM: 11025596
Retinal vein occlusion GAD: 18235909
Congenital abnormalities GAD: 12143122
Intrauterine growth retardation GAD: 16192348
Hyperhomocysteinemia GAD: 14656021
Hyperhomocysteinaemia GAD: 12146133
Glucosephosphate dehydrogenase deficiency GAD: 19219640
Gaucher disease GAD: 18978274
Spinal dysraphism GAD: 19161160
Spina bifida KEGG: H00262
Bronchopulmonary dysplasia GAD: 18614962
Homocystinuria KEGG: H00183
Nonsyndromic cleft lip GAD: 19727233
Neural tube defects GAD: 12431255
Cleft defects GAD: 12030886
Clubfoot GAD: 16936070
Liver disease GAD: 18495456
Mesenteric vascular occlusion GAD: 11197244
Hyperthyroidism GAD: 15447919
Graves disease GAD: 20941748
Diabetic nephropathy GAD: 11015479
Blindness optic atrophy GAD: 19421414
Glaucoma GAD: 18385801
Exfoliation syndrome GAD: 19112534
Choroidal neovascularization GAD: 18378576
Retinal artery occlusion GAD: 11133719
Retinal vein thrombosis GAD: 19825913
AHG deficiency disease GAD: 12679134
Anemia GAD: 19391036
Beta-thalassemia GAD: 18480081
Blood coagulation disorders GAD: 15007309
Sickle cell anemia GAD: 15481892
Hemophilia GAD: 18459951
Hemorrhage GAD: 19733287
Neutropenia GAD: 19074750
Thalassemia GAD: 15073633
Thrombocytopenia GAD: 12724616
Thrombophilia GAD: 18583164
Von willebrand disease GAD: 19959486
Hemolytic uremic syndrome GAD: 19110485
Antiphospholipid syndrome GAD: 11454529
Arthritis GAD: 18381794
Asthma GAD: 11471199
Behcet's disease GAD: 20452800
Inflammatory bowel disease GAD: 17111197
Multiple sclerosis GAD: 19854238
Rheumatoid arthritis GAD: 11927833
Ulcerative colitis GAD: 18700049
Psoriasis GAD: 12901638
Systemic lupus erythematosus (SLE) GAD: 12027572
Celiac disease GAD: 19248194
Chronic ulcerative colitis GAD: 20594233
Crohn's disease GAD: 16141796
Albuminuria GAD: 11531629
Fatty liver GAD: 15834927
Folic acid deficiency GAD: 18714149
Metabolic diseases GAD: 20523222
Hypercholesterolemia GAD: 17574929
Insulin resistance GAD: 20926035
Obesity GAD: 18426813
Metabolic syndrome GAD: 19083485
Diabetes GAD: 12673582
Hyperlipidemias GAD: 19263808
Osteonecrosis GAD: 14742985
Osteoporosis GAD: 12674333
Bone diseases GAD: 18979159
Nervous system diseases GAD: 15996400
Migraine disorder GAD: 19559392
Chronic progressive chorea GAD: 15354395
Stroke GAD: 10229729
Intracranial thrombosis GAD: 15528884
Alzheimer's disease GAD: 15123333
Alzheimer's disease GAD: 15123333
Amyotrophic lateral sclerosis (ALS) GAD: 18513389
Parkinson disease GAD: 11807892
Epilepsy GAD: 15970629
Epilepsy GAD: 19245802
Cerebral palsy GAD: 18977990
Hearing Loss GAD: 17334320
Autism GAD: 19267885
Bipolar disorder GAD: 18513846
Major depressive disorder GAD: 17938638
Mental disorder GAD: 18510799
Schizophrenia GAD: 10424670
Psychological disorders GAD: 18801628
Dementia GAD: 19716217
Depression GAD: 18801628
Kidney diseases GAD: 19520069
Chronic kidney failure GAD: 18587236
Chronic renal failure GAD: 21085059
Abortion GAD: 20707730
Abruptio placentae GAD: 11451544
HELLP Syndrome GAD: 18568463
GSTM1 methylation infertility GAD: 17277043
Recurrent pregnancy loss (RPL) GAD: 12956845
Recurrent pregnancy loss (RPL) GAD: 19707467
Placenta diseases GAD: 15793792
Placenta diseases GAD: 15793792
Spermatogenesis defects GAD: 19657388
Preeclampsia GAD: 19070828
Pregnancy complications GAD: 11828266
Turners syndrome GAD: 19169497
Female infertility INFBASE: 23607386
Follicular estradiol synthesis INFBASE: 18249399
Implantation failure INFBASE: 27068821
Oocyte maturation INFBASE: 24746944
Production of granulosa cells INFBASE: 18249399
Ovarian hyperstimulation syndrome (OHSS) INFBASE: 16128122
Recurrent pregnancy loss (RPL) INFBASE: 22047507
Premature ovarian failure (POF) INFBASE: 22713864
Recurrent pregnancy loss (RPL) INFBASE: 23010533
Ovarian response INFBASE: 16533336
Polycystic ovary syndrome (PCOS) INFBASE: 22882325
Unexplained infertility INFBASE: 19939360
Unexplained infertility INFBASE: 23539766
Unexplained infertility INFBASE: 21815801
Oligoasthenozoospermia MIK: 24365028
Oligoasthenoteratozoospermia MIK: 26549413
Asthenozoospermia MIK: 23117460
Azoospermia MIK: 22175540
Male factor infertility MIK: 20935396
Male factor infertility MIK: 16861746
Oligoasthenozoospermia MIK: 25966116
Teratozoospermia MIK: 23117460
Sperm counts MIK: 20888556
Sperm methylation errors MIK: 23955684
Oligozoospermia MIK: 23117460
Unexplained azoospermia MIK: 19657388
Varicocele MIK: 24456105
Spermatogenesis defects MIK: 23975186
Oligozoospermia MIK: 19657388
Unexplained infertility MIK: 22457816
Non obstructive azoospermia MIK: 19477879
Turners syndrome MIK: 26217949
Non obstructive azoospermia MIK: 25983623
Chorioamnionitis GAD: 20452482
Embryo selection GAD: 18485163
Endometriosis-associated infertility INFBASE: 21429654
Erectile dysfunction MIK: 23090267
Pulmonary thromboembolism GAD: 16881367
Chronic obstructive pulmonary disease (COPD) GAD: 19625176
Rhinitis GAD: 20088379
Connective tissue diseases GAD: 19527514
Adrenoleukodystrophy GAD: 19353223
Alpha 1-antitrypsin deficiency GAD: 11480782
Anencephaly GAD: PMID
Fetal loss thrombophilia GAD: 19909951
Hypertrophy GAD: 19093229
Ischemia GAD: 19193985
Hyperuricemia GAD: 17010581
Proliferative diabetic retinopathy GAD: 10765003
Risk of cervical dysplasia GAD: 11751445
Retinal vascular occlusion GAD: 12928694
Venous thrombophilia GAD: 10680639
Spinal bone mineral density GAD: 18715139
Omphalocele GAD: 15937947
Deep vein thrombophilia GAD: 12170465
Isolated orofacial clefts KEGG: H00516
Genital diseases GAD: 19799358
Renal disease GAD: 12180000
Cataract GAD: 15808177
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Associated with spermatogenesis and epigenetic regulation MIK: 21674046
Azoospermia MIK: 26584688
Male infertility MIK: 26584688
Oligozoospermia MIK: 16888682
Oligoasthenozoospermia MIK: 25966116
Male infertility MIK: 25966116
Primary infertility MIK: 25966116
Cryptorchidism MIK: 28606200
Erectile dysfunction MIK: 23090267
Oligoasthenoteratozoospermia MIK: 26549413
Non-obstructive azoospermia MIK: 19477879
Recurrent spontaneous abortions MIK: 23010533
Spermatogenic defects MIK: 23975186
Recurrent pregnancy loss MIK: 22047507
Polycystic ovary syndrome (PCOS) MIK: 22882325
Sperm counts MIK: 20888556
Sperm methylation errors, Male infertility MIK: 23955684
Spermatogenic defects MIK: 23117460
Oligozoospermia MIK: 23117460
Asthenozoospermia MIK: 23117460
Teratozoospermia MIK: 17327269
Turners syndrome MIK: 22283972
Unexplained azoospermia MIK: 19657388
Unexplained severe male infertility MIK: 22457816
Varicocele MIK: 24456105

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19477879 Male infer
tility, no
n-obstruct
ive azoosp
ermia (NOA
)
100 (50 patient
s with NOA and
50 fertile men
(controls))
 Male infertility
Show abstract
26584688 Male infer
tility, Ol
igoastheno
tertozoosp
ermia
 MTHFR C677T polymorphism Asians,
Caucas
ians
 11187 (5659 inf
ertility cases,
5528 controls)
 Male infertility
Show abstract
26549413 Male infer
tility, az
oospermia,
oligoasth
enoteratoz
oospermia
 MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G mutations and the MTHFR haplotype Asians,
Europe
ans, Am
ericans
, Afric
ans, mi
xed pop
ulation
.
Male infertility MTHFR
MTR
MTRR
 Show abstract
26505368 Male infer
tility, Id
iopathic a
zoospermia
, oligospe
rmia
 rs55763075 Chinese
 922 (464 infert
ile men with id
iopathic azoosp
ermia or oligos
permia, 458 con
trols with norm
al fertility)
 Male infertility
Show abstract
26380869 Male infer
tility
 MTHFR-Ala222Val Iranian
 497 (242 had un
explained infer
tility, 255 wer
e healthy contr
ols)
 Male infertility
Show abstract
26217949 Turners sy
ndrome
 MTHFR C677T , A1298C polymorphisms Egyptia
n
 48 (33 TS patie
nts, 15 healthy
females)
 Male infertility
Show abstract
26196053 Non-obstru
ctive azoo
spermia (N
OA), Male
infertilit
y
 MTHFR c.677C > T (rs1801133), MTHFR c.1298A > C (rs1801131), MTR c.2756A > G (rs1805087), and MTRR c.66A > G (rs1801394) 
331 (85 inferti
le men with NOA
, 246 fertile m
en as controls)
 Male infertility MTHFR
MTR
MTRR
 Show abstract
25983623 Non-obstru
ctive male
infertili
ty
 MTHFR (677C > T; 1298A > C), MTR (2756A > G) and MTRR (66A > G) polymorphisms Polish
 636 (284 infert
ile men, 352 fe
rtile controls)
 Male infertility MTHFR
MTR
MTRR 
 Show abstract
25966116 Azoospermi
a, oligoas
thenozoosp
ermia, Mal
e infertil
ity, Prima
ry inferti
lity
 MTRR A66G, MTHFR C677T, A1298C, and MS A2756G
282 (162 infert
ile patients (1
00 azoospermia,
62 oligoasthen
ozoospermia), 1
20 fertile men
as controls )
 Male infertility MTRR
 MTHFR
MS
 Show abstract
25793386 Male infer
tility
 MTHFR 677C>T polymorphism
11022 (5575 cas
es, 5447 contro
ls)
 Male infertility
Show abstract
25739334 Non-obstru
ctive azoo
spermia
1466 (757 NOA p
atients, 709 fe
rtile males)
 Male infertility  BRWD1
DNMT1
DNMT3B
RNF17
UBR2
USP1
USP26
BRDT and MTHFR
 Show abstract
25578539 Male infer
tility, az
oospermia,
oligozoos
permia
 MTHFR C677T and A1298C, MTR A2756G and MTRR A66G Chinese
 500 (296 idiopa
thic infertile
males with azoo
spermia or olig
ozoospermia, 20
4 fertile males
)
 Male infertility MTHFR
MTR
MTRR
 Show abstract
25428700 Oligozoosp
ermia, Mal
e infertil
ity
 MTHFR c.677C>T, c.1298A>C polymorphisms Turkey
 137 (75 nonobst
ructive azoospe
rmia, 62 oligoz
oospermia)
 Male infertility
Show abstract
25412139 Male infer
tility
 C677T and A1298C
250 (118 sample
s were from oli
gospermic men,
132 were from c
ontrols)
 Male infertility
Show abstract
24737513 Male infer
tility
 MTHFR C677T, MTHFR A1298C
348 (215 men wh
o were infertil
e at 1 year (82
remained infer
tile), 133 fert
ile)
 Male infertility
Show abstract
24456105 Varicocele
 MTHFR gene in C677T and A1298C
216 (107 varico
cele patients,
109 fertile hea
lthy individual
s)
 Male infertility
Show abstract
24334125 Male infer
tility, Az
oospermia,
oligozoos
permia
 MTHFR (C677T and A1298C) and MTRR (A66G) polymorphisms Jordani
an
 300 (150 infert
ile men (45 oli
gozoospermia, 7
1 severe oligoz
oospermia, 34 a
zoopsermia), 15
0 controls)
 Male infertility
Show abstract
24268703 Idiopathic
male infe
rtility, a
zoospermia
 MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, SHMT1 C1420T, MTHFD1 G1958A, and CBS 844ins68 Russian
 624 (275 men wi
th idiopathic m
ale infertility
, 349 controls)
 Male infertility MTHFD1 G1958A
MTR A2756G
MTHFR C677T
 Show abstract
24366618 Male infer
tility
 MTHFR 677CC, 677CT, 677TT North I
ndian
 1001 (637 North
Indian inferti
le patients, 36
4 fertile North
Indian men as
controls)
 Male infertility
Show abstract
24365028 Oligoasthe
nospermia
 Romania
n
 38 (27 spermato
genic defects,
11 controls)
 Male infertility MTHFR
SNRPN
 Show abstract
23975186 Male infer
tility, Sp
ermatogeni
c defects

Male infertility
Show abstract
23955684 Sperm meth
ylation er
rors, Male
infertili
ty
 MTHFR rs1801133, CTCFL Spanish
 132 (107 infert
ile males, 25 f
ertile sperm do
nors)
 Male infertility MTHFR
CTCFL
 Show abstract
23874907 Male infer
tility
 c.203G>A, c.1298A>C, and c.1793G>A polymorphisms in the MTHFR gene
880 (630 infert
ile and 250 fer
tile males), Me
ta analysis: 27
34 cases, 2737
controls
 Male infertility
Show abstract
23117460 Spermatoge
nic defect
s, oligosp
ermia, ast
henospermi
a or terat
ospermia
 CT and TT genotypes of MTHFR C677T, MS A2756G Chinese
 147 (75 males w
ith oligospermi
a, asthenosperm
ia or teratospe
rmia, 72 fertil
e males)
 Male infertility MTHFR
MS
 Show abstract
23090267 Idiopathic
male infe
rtility, i
ncluding e
rectile dy
sfunction
(ED)
 C677T polymorphism (rs1801133)
90 healthy men
with ED
 Male infertility
Show abstract
23010533 Male infer
tility, Re
current sp
ontaneous
abortions
187 (20 Recurre
nt spontaneous
abortions, 147
No history recu
rrent spontaneo
us abortion, 20
fertile men )
 Male infertility
Show abstract
22928696 Male infer
tility, az
oospermia,
severe ol
igozoosper
mia
 MTHFR 677CC, 677CT, and 677TT Algeria
n
 158 (74 (46 inf
ertile Algerian
patients with
NOA, 28 severe
OAT), 84 ferti
le men as contr
ols)
 Male infertility
Show abstract
22882325 Recurrent
pregnancy
loss, PCOS
 MTHFR A1298C and PAI-1 4G/5G
277 (177 RPL (3
8 women with PC
OS (RPL-PCOS),
33 with ovarian
PCO (RPL-ovari
an PCO), 106 wi
thout PCOS (RPL
)), 100 control
s)
 Male infertility MTHFR
PAI-1
 Show abstract
22457816 Unexplaine
d severe m
ale infert
ility
 MTHFR C677T , A1298C variants
961 (344 men wi
th unexplained
reduced sperm c
ounts, 617 ance
stry-matched fe
rtile or normoz
oospermic contr
ols)
 Male infertility
Show abstract
22329245 Male infer
tility
 DAZL 260A > G and MTHFR  677C > T Indian
 200 (100 oligoz
oopsermic infer
tile men, 100
age- and ethnic
ally-matched fe
rtile controls)
 Male infertility DAZL
MTHFR
 Show abstract
22283972 Turners sy
ndrome
 C677T and A1298C polymorphisms of the MTHFR gene
450 (78 women w
ith TS, 372 con
trols)
 Male infertility
Show abstract
22175540 Male infer
tility, Az
oospermia
 MTHFR A1298C (rs1801131)
3368 (1633 case
s, 1735 control
s)
 Male infertility
Show abstract
22047507 Recurrent
pregnancy
loss
 FVL, factor V H1299R, factor II prothrombin G20210A, FXIII V34L, ?-fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo Turkish
 976 (870 indivi
duals with RPL
(543 Turkish wo
men with RPL, 3
27 of their mal
e partners), 10
6 fertile coupl
es (control))
 Male infertility, Female infertility VL-FVR2
ApoE2
PAI-1
 MTHFR C677T-A1298C
ACE
 Show abstract
21799811 Male infer
tility
 MTHFR gene 677C>T Indian
 837 (522 infert
ile men, 315 co
ntrols )
 Male infertility
Show abstract
21775772 Idiopathic
infertile
men
 MTHFR C677T, A1298C, and G1793A; MTRR A66G; and MTR A2756G polymorphisms Brazili
an
 306 (133 idiopa
thic infertile
Brazilian men w
ith nonobstruct
ive azoospermia
([NOA] n = 55)
or severe olig
ozoospermia ([S
O] n = 78) and
173 fertile men
as controls)
 Male infertility MTHFR
MTRR
MTR 
 Show abstract
21729137 Male infer
tility
 MTHFR C677T polymorphism South I
ndian
 436 (206 infert
ile men, 230 et
hnically matche
d controls)
 Male infertility
Show abstract
21643754 Male infer
tility
 MTHFR 677C>T and 1298A>C polymorphisms Asian
Male infertility
Show abstract
21535009 Male infer
tility
 MTHFR C677T polymorphism Asian,
Caucasi
an
 4233 (2275 case
s, 1958 control
s)
 Male infertility
Show abstract
21138341 Male infer
tility, Ol
igozoosper
mia, Azoos
permia
 MTHFR 677CC, 677CT, and 677TT Brazili
an
 389 (156 idiopa
thic infertile
patients with N
OA (n=49) or se
vere oligozoosp
ermia (n=107)),
233 fertile me
n as controls)
 Male infertility
Show abstract
21085488 Idiopathic
male infe
rtility
 MTHFR hypermethylation
148 (94 idiopat
hic infertile m
en and 54 norma
l fertile contr
ols)
 Male infertility
Show abstract
20978181 Idiopathic
male infe
rtility
 MTHFR gene polymorphisms (C677T, A1298C, and G1793A)
492 (164 men wi
th idiopathic i
nfertility, 328
healthy partic
ipants)
 Male infertility
Show abstract
20935396 Idiopathic
male infe
rtility
 C677T and A1298C variants of MTHFR Indian
 291 (151 idiopa
thic male infer
tile patients,
140 healthy fer
tile controls)
 Male infertility
Show abstract
20888556 Sperm coun
ts
 MTHFR (c.1286A ? C, c.665C ? T and c.203G ? A) and two MTRR (c.66A ? G and c.524C ? T)
522 (268 men se
eking infertili
ty, 254 partner
s of infertile
women)
 Male infertility  MTHFR
 MTRR
 Show abstract
19657388 Unexplaine
d azoosper
mia, oligo
zoospermia
 MTHFR (R68Q, A222V and E429A), MTRR; (I22M and S175L), CBS; G307S French
 366 (70 unexpla
ined azoospermi
a, 182 oligozoo
spermia, 114 no
rmospermic and
fertile men )
 Male infertility
Show abstract
17277043 Non-obstru
ctive infe
rtility 
 MTHFR (C677T and A1298C) and DNMT3b (C46359T) Indian
 379 (179 oligoa
sthenoteratozoo
spermia patient
s, 200 fertile
men)
 Male infertility MTHFR
DNMT3b and GSTM1
 Show abstract
16484136 Male infer
tility
  MTHFR C677T
105 (46 subject
s reported havi
ng had a child,
59 were still
childless)
 Male infertility
Show abstract
16888682 Azoospermi
a, severe
oligozoosp
ermia
 MTHFR (C677T) Chinese
 607 (355 infert
ile patients wi
th idiopathic a
zoospermia or s
evere oligozoos
permia, 252 fer
tile men as con
trols)
 Male infertility MTHFR
 Show abstract
16861746 Non-obstru
ctive male
infertili
ty
 MTHFR (C677T), MS (A2756G), MTRR (A66G)
685 (360 infert
ile patients (1
74 azoospermia,
186 oligoasthe
noteratozoosper
mia (OAT)), 325
controls)
 Male infertility MTHFR
MS
MTRR
 Show abstract
16247718 Male infer
tility, se
vere OAT,
non-obstru
ctive azoo
spermia in
unexplain
ed inferti
le males
 MTHFR (C677T, A1298C)

Male infertility MTHFR
 Show abstract
15811073 Male infer
tility, id
iopathic a
zoospermia
, oligozoo
spermia
 MTHFR (C677T)
351 (151 cases
of non-obstruct
ion, idiopathic
oligo-/azoospe
rmia, 200 ferti
le males (contr
ols))
 Male infertility MTHFR
 Show abstract
14594111 Male infer
tility
 MTHFR 677T allele Italian
 198 (93 inferti
le patients, 10
5 fertile contr
ols)
 Male infertility MTHFR
 Show abstract
11302150 Male infer
tility
 MTHFR C677T
455 (255 random
ly selected men
seeking fertil
ity evaluation,
200 controls)
 Male infertility MTHFR
 Show abstract
14607573 Male subfe
rtility
 MTHFR (C677T)
190 (113 fertil
e males, 77 sub
fertile males)
 Male infertility MTHFR
 Show abstract
28270024 Male infer
tility
 G1793A
308 (169 infert
ile, 139 fertil
e men)
 Male infertility
Show abstract
27596009 Idiopathic
male infe
rtility
80 (40 idiopath
ic infertile me
n with normozoo
spermia, 40 con
trols consistin
g of healthy fe
rtile men)
 Male infertility
Show abstract
20378615 Oligozoosp
ermia or a
zoospermia
 rs1801131 Europea
n
 442 (158 normos
permic controls
, 63 moderately
oligozoospermi
c samples, 141
severe oligozoo
spermic samples
and 80 non-obs
tructed azoospe
rmic samples)
 Male infertility GWAS
 Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract