MTHFR c.1286A>C ;(p.E429A)

Variant ID: 1-11854476-T-G

NM_005957.4(MTHFR):c.1286A>C;(p.E429A)

This variant was identified in 876 publications

View GRCh38 version.




Publications:


Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Frontiers In Genetics
Srivastava, Priyanka P; Bamba, Chitra C; Chopra, Seema S; Rohilla, Minakshi M; Chaudhry, Chakshu C; Kaur, Anupriya A; Panigrahi, Inusha I; Mandal, Kausik K
Publication Date: 2023

Variant appearance in text: MTHFR: 1286A>C; Glu429Ala
PubMed Link: 37260775
Variant Present in the following documents:
  • Main text
  • fgene-14-1155211.pdf
View BVdb publication page



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: rs1801131
PubMed Link: 37256234
Variant Present in the following documents:
  • Main text
  • fphar-14-1184523.pdf
View BVdb publication page



Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Genes
Barretta, Ferdinando F; Uomo, Fabiana F; Fecarotta, Simona S; Albano, Lucia L; Crisci, Daniela D; Verde, Alessandra A; Fisco, Maria Grazia MG; Gallo, Giovanna G; Dottore Stagna, Daniela D; Pricolo, Maria Rosaria MR; Alagia, Marianna M; Terrone, Gaetano G; Rossi, Alessandro A; Parenti, Giancarlo G; Ruoppolo, Margherita M; Mazzaccara, Cristina C; Frisso, Giulia G
Publication Date: 2023-04-26

Variant appearance in text: MTHFR: 1286A>C; Glu429Ala; rs1801131
PubMed Link: 37239340
Variant Present in the following documents:
  • Main text
  • genes-14-00980.pdf
View BVdb publication page



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: 1286A>C
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: rs1801131
PubMed Link: 37159804
Variant Present in the following documents:
  • Main text
  • pgpm-16-407.pdf
View BVdb publication page



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: rs1801131
PubMed Link: 37085278
Variant Present in the following documents:
  • bmjdrc-2022-003046supp003.pdf
View BVdb publication page



Multivariate Genome-wide Association Analysis by Iterative Hard Thresholding.

Bioinformatics (Oxford, England)
Chu, Benjamin B BB; Ko, Seyoon S; Zhou, Jin J JJ; Jensen, Aubrey A; Zhou, Hua H; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2023-04-17

Variant appearance in text: rs1801131
PubMed Link: 37067496
Variant Present in the following documents:
  • btad193_supplementary_data.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: MTHFR: E429A
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
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: rs1801131
PubMed Link: 36986225
Variant Present in the following documents:
  • Main text
  • nutrients-15-01495.pdf
View BVdb publication page



Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19.

Genes
Fevraleva, Irina I; Mamchich, Daria D; Vinogradov, Dmitriy D; Chabaeva, Yulia Y; Kulikov, Sergey S; Makarik, Tatiana T; Margaryan, Vahe V; Manasyan, Georgiy G; Novikova, Veronika V; Rachina, Svetlana S; Melkonyan, Georgiy G; Lytkina, Karine K
Publication Date: 2023-03-04

Variant appearance in text: MTHFR: Glu429Ala; rs1801131
PubMed Link: 36980916
Variant Present in the following documents:
  • genes-14-00644.pdf
View BVdb publication page



Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson's disease.

Iscience
Gaare, Johannes J JJ; Dölle, Christian C; Brakedal, Brage B; Brügger, Kim K; Haugarvoll, Kristoffer K; Nido, Gonzalo S GS; Tzoulis, Charalampos C
Publication Date: 2023-03-17

Variant appearance in text: MTHFR: E429A; rs1801131
PubMed Link: 36936793
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.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: rs1801131
PubMed Link: 36918009
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0042-1758445.pdf
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: MTHFR: 1286A>C; Glu429Ala
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



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: rs1801131
PubMed Link: 36900216
Variant Present in the following documents:
  • Main text
  • cancers-15-01424.pdf
View BVdb publication page



Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer susceptibility: an updated meta-analysis.

Bioscience Reports
Wang, Yuwei Y; Huo, Lili L; Yang, Changqing C; He, Xiaofeng X
Publication Date: 2023-03-10

Variant appearance in text: rs1801131
PubMed Link: 36896928
Variant Present in the following documents:
  • Main text
  • bsr-43-bsr20222553.pdf
View BVdb publication page



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: rs1801131
PubMed Link: 36790744
Variant Present in the following documents:
  • Main text
  • AJPA-180-252.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: rs1801131
PubMed Link: 36742186
Variant Present in the following documents:
  • Main text
  • bs9-5-32.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: Glu429Ala
PubMed Link: 36699103
Variant Present in the following documents:
  • mi-02-02-00037.pdf
View BVdb publication page



New Genetically Determined Markers of the Functional State of the Cardiovascular System.

Genes
Kondakova, Elena V EV; Ilina, Valeria M VM; Ermakova, Lyubov M LM; Krivonosov, Mikhail I MI; Kuchin, Kirill V KV; Vedunova, Maria V MV
Publication Date: 2023-01-10

Variant appearance in text: rs1801131
PubMed Link: 36672926
Variant Present in the following documents:
  • Main text
  • genes-14-00185.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: 1286A>C; E429A
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
  • Supplementary_Data5.xlsx, sheet 2
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: rs1801131
PubMed Link: 36632296
Variant Present in the following documents:
  • rpor-27-6-1045.pdf
View BVdb publication page



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: E429A
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: rs1801131
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Association of homocysteine and polymorphism of methylenetetrahydrofolate reductase with early-onset post stroke depression.

Frontiers In Nutrition
Zhang, Jingyuan J; Zeng, Chang C; Huang, Xia X; Liao, Qiao Q; Chen, Hengshu H; Liu, Fan F; Sun, Dongren D; Luo, Shihang S; Xiao, Yeqing Y; Xu, Weiye W; Zeng, Danfeng D; Song, Mingyu M; Tian, Fafa F
Publication Date: 2022

Variant appearance in text: rs1801131
PubMed Link: 36562046
Variant Present in the following documents:
  • Main text
  • fnut-09-1078281.pdf
View BVdb publication page



Modifiable Risk Factors of Non-Syndromic Orofacial Clefts: A Systematic Review.

Children (Basel, Switzerland)
Inchingolo, Angelo Michele AM; Fatone, Maria Celeste MC; Malcangi, Giuseppina G; Avantario, Pasquale P; Piras, Fabio F; Patano, Assunta A; Di Pede, Chiara C; Netti, Anna A; Ciocia, Anna Maria AM; De Ruvo, Elisabetta E; Viapiano, Fabio F; Palmieri, Giulia G; Campanelli, Merigrazia M; Mancini, Antonio A; Settanni, Vito V; Carpentiere, Vincenzo V; Marinelli, Grazia G; Latini, Giulia G; Rapone, Biagio B; Tartaglia, Gianluca Martino GM; Bordea, Ioana Roxana IR; Scarano, Antonio A; Lorusso, Felice F; Di Venere, Daniela D; Inchingolo, Francesco F; Inchingolo, Alessio Danilo AD; Dipalma, Gianna G
Publication Date: 2022-11-28

Variant appearance in text: rs1801131
PubMed Link: 36553290
Variant Present in the following documents:
  • Main text
  • children-09-01846.pdf
View BVdb publication page



Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Bmc Cancer
Hurkmans, Evelien G E EGE; Brand, Annouk C A M ACAM; Verdonschot, Job A J JAJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH
Publication Date: 2022-12-19

Variant appearance in text: rs1801131
PubMed Link: 36536332
Variant Present in the following documents:
  • Main text
  • 12885_2022_10434_MOESM2_ESM.pdf
  • 12885_2022_Article_10434.pdf
View BVdb publication page



Association between maternal MTHFR C677T/A1298C combination polymorphisms and IVF/ICSI outcomes: a retrospective cohort study.

Human Reproduction Open
Lu, Yong-Jie YJ; Li, Qin Q; Chen, Li-Xue LX; Tian, Tian T; Kang, Jia J; Hao, Yong-Xiu YX; Zhou, Jian-Suo JS; Wang, Yuan-Yuan YY; Yan, Li-Ying LY; Li, Rong R; Chang, Liang L; Qiao, Jie J
Publication Date: 2023

Variant appearance in text: rs1801131
PubMed Link: 36531663
Variant Present in the following documents:
  • Main text
  • hoac055.pdf
View BVdb publication page



Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka.

Journal, Genetic Engineering & Biotechnology
Samarasinghe, Nadeesha N; Mahaliyanage, Dinithi D; De Silva, Sumadee S; Jasinge, Eresha E; Punyasiri, Nimal N; Dilanthi, H W HW
Publication Date: 2022-12-13

Variant appearance in text: MTHFR: 1286A>C; Glu429Ala; rs1801131
PubMed Link: 36512268
Variant Present in the following documents:
  • Main text
  • 43141_2022_Article_449.pdf
View BVdb publication page



Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs1801131
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1801131
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Identification of SNPs associated with methotrexate treatment outcomes in patients with early rheumatoid arthritis.

Frontiers In Pharmacology
Kolan, Shrikant S SS; Li, Gaoyang G; Grimolizzi, Franco F; Sexton, Joe J; Goll, Guro G; Kvien, Tore K TK; Sundlisæter, Nina Paulshus NP; Zucknick, Manuela M; Lillegraven, Siri S; Haavardsholm, Espen A EA; Skålhegg, Bjørn Steen BS
Publication Date: 2022

Variant appearance in text: rs1801131
PubMed Link: 36467057
Variant Present in the following documents:
  • Main text
  • fphar-13-1075603.pdf
View BVdb publication page



Venous Thrombosis Has a Constellation of Different Risk Factors: A Case Report and State-of-the-Art Review.

Cureus
Silva Cruz, Margarida M; Rodrigues Santos, Ligia L; Esteves Rodrigues, Tiago T; Manuel Pereira da Silva, Francisco F; Ferraz Moreira, Vera V
Publication Date: 2022-10

Variant appearance in text: MTHFR: 1286A>C; Glu429Ala
PubMed Link: 36447700
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000030766.pdf
View BVdb publication page



The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival.

Nutrients
Wang, Yu Y; Du, Meizhi M; Vallis, Jillian J; Shariati, Matin M; Parfrey, Patrick S PS; Mclaughlin, John R JR; Wang, Peizhong Peter PP; Zhu, Yun Y
Publication Date: 2022-11-01

Variant appearance in text: MTHFR: Glu429Ala; rs1801131
PubMed Link: 36364857
Variant Present in the following documents:
  • Main text
  • nutrients-14-04594.pdf
View BVdb publication page



Update on Findings about Sudden Sensorineural Hearing Loss and Insight into Its Pathogenesis.

Journal Of Clinical Medicine
Yamada, Satoshi S; Kita, Junya J; Shinmura, Daichi D; Nakamura, Yuki Y; Sahara, Sosuke S; Misawa, Kiyoshi K; Nakanishi, Hiroshi H
Publication Date: 2022-10-28

Variant appearance in text: rs1801131
PubMed Link: 36362614
Variant Present in the following documents:
  • Main text
  • jcm-11-06387.pdf
View BVdb publication page



A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss.

Biology
Capra, Anna Paola AP; Ardizzone, Alessio A; Briuglia, Silvana S; La Rosa, Maria Angela MA; Mondello, Stefania S; Campolo, Michela M; Esposito, Emanuela E
Publication Date: 2022-11-03

Variant appearance in text: MTHFR: Glu429Ala
PubMed Link: 36358309
Variant Present in the following documents:
  • biology-11-01608.pdf
View BVdb publication page