MTHFR c.665C>T ;(p.A222V)

Variant ID: 1-11856378-G-A

NM_005957.4(MTHFR):c.665C>T;(p.A222V)

This variant was identified in 1536 publications

View GRCh38 version.




Publications:


Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm?

Frontiers In Pharmacology
Maslarinou, Anthi A; Manolopoulos, Vangelis G VG; Ragia, Georgia G
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 37256234
Variant Present in the following documents:
  • Main text
  • fphar-14-1184523.pdf
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Biomarker and genomic analyses reveal molecular signatures of non-cardioembolic ischemic stroke.

Signal Transduction And Targeted Therapy
Ding, Lingling L; Liu, Yu Y; Meng, Xia X; Jiang, Yong Y; Lin, Jinxi J; Cheng, Si S; Xu, Zhe Z; Zhao, Xingquan X; Li, Hao H; Wang, Yongjun Y; Li, Zixiao Z
Publication Date: 2023-05-30

Variant appearance in text: rs1801133
PubMed Link: 37248226
Variant Present in the following documents:
  • Main text
  • 41392_2023_Article_1465.pdf
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Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?

International Journal Of Molecular Sciences
Jelovac, Marina M; Kotur, Nikola N; Ristivojevic, Bojan B; Pavlovic, Djordje D; Spasovski, Vesna V; Damjanov, Nemanja N; Pavlovic, Sonja S; Zukic, Branka B
Publication Date: 2023-05-10

Variant appearance in text: rs1801133
PubMed Link: 37239884
Variant Present in the following documents:
  • Main text
  • ijms-24-08538.pdf
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Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer.

Bioscience Reports
Liang, Qiulian Q; Huang, Gongchen G; Zhong, Ping P; Deng, Dengting D; Yang, Lin L; Yu, Xiangyuan X
Publication Date: 2023-05-22

Variant appearance in text: rs1801133
PubMed Link: 37212185
Variant Present in the following documents:
  • bsr-43-bsr20230462.pdf
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The Potential of Single Nucleotide Polymorphisms (SNPs) as Biomarkers and Their Association with the Increased Risk of Coronary Heart Disease: A Systematic Review.

Vascular Health And Risk Management
Sitinjak, Bernap Dwi Putra BDP; Murdaya, Niky N; Rachman, Tiara Anisya TA; Zakiyah, Neily N; Barliana, Melisa Intan MI
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 37179817
Variant Present in the following documents:
  • Main text
  • vhrm-19-289.pdf
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Effect of pharmacogenomics testing guiding on clinical outcomes in major depressive disorder: a systematic review and meta-analysis of RCT.

Bmc Psychiatry
Wang, Xinrui X; Wang, Chenfei C; Zhang, Yi Y; An, Zhuoling Z
Publication Date: 2023-05-12

Variant appearance in text: MTHFR: 665C>T
PubMed Link: 37173736
Variant Present in the following documents:
  • 12888_2023_Article_4756.pdf
View BVdb publication page



MTHFR and MTRR Genetic Polymorphism of Methotrexate Therapy Outcomes in Early Rheumatoid Arthritis.

Pharmacogenomics And Personalized Medicine
Zhang, Qian Q; Fu, Pan P; Cao, Zhanglei Z; Huang, Hua H; Wen, Qinwen Q; Wang, Kaizhe K; Kong, Tong T; Wu, Xiudi X; Zheng, Jianping J
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 37159804
Variant Present in the following documents:
  • Main text
  • pgpm-16-407.pdf
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A nomogram based on genotypic and clinicopathologic factors to predict the non-sentinel lymph node metastasis in Chinese women breast cancer patients.

Frontiers In Oncology
Zhu, Liling L; Liu, Ke K; Bao, Baoshi B; Li, Fengyun F; Liang, Wentao W; Jiang, Zhaoyun Z; Hao, Xiaopeng X; Wang, Jiandong J
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 37152050
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Ischaemic stroke with multi-focal venous and arterial thrombosis due to hyperhomocysteinemia: anabolic androgenic steroid use and MTHFR c.667 C > T variant - a case report.

Bmc Neurology
Chen, Jpk J; Rees, A A; Coughlan, C H CH; Goodison, W W; Murphy, E E; Chandratheva, A A
Publication Date: 2023-04-26

Variant appearance in text: rs1801133
PubMed Link: 37101129
Variant Present in the following documents:
  • Main text
  • 12883_2023_Article_3197.pdf
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Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans.

Pharmacogenetics And Genomics
Mateza, Somila S; Bradford, Yuki Y; Maartens, Gary G; Sokhela, Simiso S; Chandiwana, Nomathemba C NC; Venter, Willem D F WDF; Post, Frank A FA; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2023-04-24

Variant appearance in text: rs1801133
PubMed Link: 37099271
Variant Present in the following documents:
  • Main text
  • pgen-33-91.pdf
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Development and validation of a multivariable genotype-informed gestational diabetes prediction algorithm for clinical use in the Mexican population: insights into susceptibility mechanisms.

Bmj Open Diabetes Research & Care
Zulueta, Mirella M; Gallardo-Rincón, Héctor H; Martinez-Juarez, Luis Alberto LA; Lomelin-Gascon, Julieta J; Ortega-Montiel, Janinne J; Montoya, Alejandra A; Mendizabal, Leire L; Arregi, Maddi M; Martinez-Martinez, María de Los Angeles MLA; Camarillo Romero, Eneida Del Socorro EDS; Mendieta Zerón, Hugo H; Garduño García, José de Jesús JJ; Simón, Laureano L; Tapia-Conyer, Roberto R
Publication Date: 2023-04

Variant appearance in text: rs1801133
PubMed Link: 37085278
Variant Present in the following documents:
  • bmjdrc-2022-003046supp003.pdf
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Role of MDR1 Gene Polymorphisms in Human Male Infertility: A Meta-Analysis.

American Journal Of Men'S Health
Sohail, Anam A; Arshad, Adina A; Tariq, Tamjeed T; Bibi, Ayesha A; Aslam, Shaista S; Irfan, Muhammad M
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 37081725
Variant Present in the following documents:
  • 10.1177_15579883231166645.pdf
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Associations of MTHFR gene polymorphism with lipid metabolism and risk of cerebral infarction in the Northwest Han Chinese population.

Frontiers In Neurology
Guan, Dong D; Ji, Yichun Y; Lu, Xiaoyun X; Feng, Weiyi W; Ma, Wenbing W
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 37064173
Variant Present in the following documents:
  • fneur-14-1152351.pdf
View BVdb publication page



Infants' Folate Markers and Postnatal Growth in the First 4 Months of Life in Relation to Breastmilk and Maternal Plasma Folate.

Nutrients
Obeid, Rima R; Warnke, Ines I; Bendik, Igor I; Troesch, Barbara B; Schoop, Rotraut R; Chenal, Elodie E; Koletzko, Berthold B; ,
Publication Date: 2023-03-20

Variant appearance in text: rs1801133
PubMed Link: 36986225
Variant Present in the following documents:
  • Main text
  • nutrients-15-01495.pdf
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Folate-Methionine Cycle Disruptions in ASD Patients and Possible Interventions: A Systematic Review.

Genes
Roufael, Melissa M; Bitar, Tania T; Sacre, Yonna Y; Andres, Christian C; Hleihel, Walid W
Publication Date: 2023-03-13

Variant appearance in text: rs1801133
PubMed Link: 36980981
Variant Present in the following documents:
  • genes-14-00709.pdf
View BVdb publication page



Case report: Mild leukoencephalopathy caused by a new mutation of NOTCH3 gene.

Medicine
Qi, Yuxiang Y; Li, Hairong H; Yu, Ling L
Publication Date: 2023-03-24

Variant appearance in text: MTHFR: 665C>T; A222V
PubMed Link: 36961171
Variant Present in the following documents:
  • Main text
  • medi-102-e33289.pdf
View BVdb publication page



Genetic factors involved in the co‑occurrence of endometriosis with ankylosing spondylitis (Review).

Molecular Medicine Reports
Zervou, Maria I MI; Papageorgiou, Louis L; Vlachakis, Dimitrios D; Spandidos, Demetrios A DA; Eliopoulos, Elias E; Goulielmos, George N GN
Publication Date: 2023-05

Variant appearance in text: MTHFR: Ala222Val; rs1801133
PubMed Link: 36960867
Variant Present in the following documents:
  • Main text
  • mmr-27-05-12983.pdf
View BVdb publication page



Acquired crizotinib-resistant pulmonary adenocarcinoma and subsequent primary gallbladder cancer: A case report.

Medicine
Zhang, Min M; Chen, Ruilin R; Zheng, Suqun S; Wang, Zhen Z
Publication Date: 2023-03-17

Variant appearance in text: MTHFR: 665C>T; A222V
PubMed Link: 36930086
Variant Present in the following documents:
  • medi-102-e33162.pdf
View BVdb publication page



Impact of pharmacogenetics on aspirin resistance: a systematic review.

Arquivos De Neuro-Psiquiatria
Silva, Gustavo Figueiredo da GFD; Lopes, Bruno Mattei BM; Moser, Vinicius V; Ferreira, Leslie Ecker LE
Publication Date: 2023-01

Variant appearance in text: rs1801133
PubMed Link: 36918009
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0042-1758445.pdf
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Personalized Medicine in Infant Population with Cancer: Pharmacogenetic Pilot Study of Polymorphisms Related to Toxicity and Response to Chemotherapy.

Cancers
Urtasun, Andrea A; Olivera, Gladys G GG; Sendra, Luis L; Aliño, Salvador F SF; Berlanga, Pablo P; Gargallo, Pablo P; Hervás, David D; Balaguer, Julia J; Juan-Ribelles, Antonio A; Andrés, María Del Mar MDM; Cañete, Adela A; Herrero, María José MJ
Publication Date: 2023-02-23

Variant appearance in text: rs1801133
PubMed Link: 36900216
Variant Present in the following documents:
  • Main text
  • cancers-15-01424.pdf
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Toxicomethylomics revisited: A state-of-the-science review about DNA methylation modifications in blood cells from workers exposed to toxic agents.

Frontiers In Public Health
Jiménez-Garza, Octavio O; Ghosh, Manosij M; Barrow, Timothy M TM; Godderis, Lode L
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 36891347
Variant Present in the following documents:
  • Main text
  • fpubh-11-1073658.pdf
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The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion.

American Journal Of Biological Anthropology
Lucock, Mark D MD
Publication Date: 2023-02

Variant appearance in text: rs1801133
PubMed Link: 36790744
Variant Present in the following documents:
  • Main text
  • AJPA-180-252.pdf
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An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo.

Current Genomics
Kakourou, Georgia G; Mamas, Thalia T; Vrettou, Christina C; Traeger-Synodinos, Joanne J
Publication Date: 2022-11-18

Variant appearance in text: rs1801133
PubMed Link: 36778192
Variant Present in the following documents:
  • Main text
  • CG-23-337.pdf
View BVdb publication page



Effects of genetic polymorphisms on methotrexate levels and toxicity in Chinese patients with acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Hao, Qishan Q; Song, Yang Y; Fang, Qiuyun Q; Lin, Yani Y; Chen, Long L; Wang, Xiaodan X; Zhang, Ping P; Wang, Zhe Z; Gong, Xiaoyuan X; Liu, Kaiqi K; Li, Qinghua Q; Tian, Zheng Z; Wang, Min M; Wang, Jianxiang J; Mi, Yingchang Y
Publication Date: 2023-01

Variant appearance in text: rs1801133
PubMed Link: 36742186
Variant Present in the following documents:
  • Main text
  • bs9-5-32.pdf
View BVdb publication page



DNA methylation status of interspersed repetitive sequences in patients with migraine.

The Journal Of International Medical Research
Kraveishvili, Nino N; Kvaratskhelia, Eka E; Surmava, Sandro S; Kvintradze, Merab M; Zarandia, Maia M; Gorgiladze, Tinatin T; Abzianidze, Elene E
Publication Date: 2023-02

Variant appearance in text: rs1801133
PubMed Link: 36734246
Variant Present in the following documents:
  • Main text
  • 10.1177_03000605231152109.pdf
View BVdb publication page



Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report.

Medicine International
Ding, Yuan Y; Wang, Qiao Q; Gong, Chun-Xiu CX
Publication Date: 2022

Variant appearance in text: MTHFR: Ala222Val
PubMed Link: 36699103
Variant Present in the following documents:
  • mi-02-02-00037.pdf
View BVdb publication page



Association Studies in Clinical Pharmacogenetics.

Pharmaceutics
Zubiaur, Pablo P; Abad-Santos, Francisco F
Publication Date: 2022-12-29

Variant appearance in text: rs1801133
PubMed Link: 36678742
Variant Present in the following documents:
  • Main text
  • pharmaceutics-15-00113.pdf
View BVdb publication page



Prothrombin Time and Coagulation Factor IX as Hemostatic Risk Markers for Legg- Calvé-Perthes Disease.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Hernández-Zamora, Edgar E; Rodríguez-Olivas, Armando Odiseo AO; Rosales-Cruz, Erika E; Galicia-Alvarado, Marlene Alejandra MA; Zavala-Hernández, Cesar C; Reyes-Maldonado, Elba E
Publication Date: 2023

Variant appearance in text: rs1801133
PubMed Link: 36650707
Variant Present in the following documents:
  • 10.1177_10760296221151166.pdf
View BVdb publication page



Scientific Abstracts of the 16th Congress of the European Academy of Paediatric Dentistry (EAPD), Lisbon, Portugal, June 15-18, 2022.

European Archives Of Paediatric Dentistry : Official Journal Of The European Academy Of Paediatric Dentistry
Publication Date: 2023-01-16

Variant appearance in text: rs1801133
PubMed Link: 36645645
Variant Present in the following documents:
  • Main text
  • 40368_2022_Article_771.pdf
View BVdb publication page



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: MTHFR: 665C>T; A222V
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: MTHFR: A222V; rs1801133
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Gene polymorphisms and prognosis of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: rs1801133
PubMed Link: 36632296
Variant Present in the following documents:
  • rpor-27-6-1045.pdf
View BVdb publication page



Beta-Meta: a meta-analysis application considering heterogeneity among genome-wide association studies.

Genomics & Informatics
Kim, Gyungbu G; Lee, Yoonsuk Y; Park, Jeong Ho JH; Kim, Dongmin D; Lee, Wonseok W
Publication Date: 2022-12

Variant appearance in text: rs1801133
PubMed Link: 36617656
Variant Present in the following documents:
  • Main text
  • gi-22046.pdf
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SARS-CoV-2 Infection: What Is Currently Known about Homocysteine Involvement?

Diagnostics (Basel, Switzerland)
Filip, Nina N; Cojocaru, Elena E; Badulescu, Oana Viola OV; Clim, Andreea A; Pinzariu, Alin Constantin AC; Bordeianu, Gabriela G; Jehac, Alina Elena AE; Iancu, Cristina Elena CE; Filip, Cristiana C; Maranduca, Minela Aida MA; Sova, Ivona Andreea IA; Serban, Ionela Lacramioara IL
Publication Date: 2022-12-21

Variant appearance in text: MTHFR: 665C>T; Ala222Val
PubMed Link: 36611302
Variant Present in the following documents:
  • Main text
  • diagnostics-13-00010.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1801133
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Polygenic Risk Score and Risk Factors for Preeclampsia and Gestational Hypertension.

Journal Of Personalized Medicine
Perišić, Marija Majda MM; Vladimir, Klemo K; Karpov, Sarah S; Štorga, Mario M; Mostashari, Ali A; Khanin, Raya R
Publication Date: 2022-11-03

Variant appearance in text: rs1801133
PubMed Link: 36579561
Variant Present in the following documents:
  • Main text
  • jpm-12-01826.pdf
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Methylenetetrahydrofolate Reductase C677T Gene Variant in Relation to Body Mass Index and Folate Concentration in a Polish Population.

Biomedicines
Wrzosek, Małgorzata M; Ślusarczyk, Klaudia K
Publication Date: 2022-12-06

Variant appearance in text: rs1801133
PubMed Link: 36551896
Variant Present in the following documents:
  • Main text
  • biomedicines-10-03140.pdf
View BVdb publication page