MTHFR c.593C>T ;(p.P198L)

Variant ID: 1-11856450-G-A

NM_005957.4(MTHFR):c.593C>T;(p.P198L)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Association Between the Individual and Combined Effects of the GSTM1 and GSTT1 Polymorphisms and Risk of Leukemia: A Meta-Analysis.

Frontiers In Genetics
Hu, Ting T; Zhou, Guozhong G; Li, Wenjin W
Publication Date: 2022

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 35938012
Variant Present in the following documents:
  • fgene-13-898937.pdf
View BVdb publication page



Evaluation of methylenetetrahydrofolate reductase and S-adenosyl-methionine level in male infertility: A case-control study.

International Journal Of Reproductive Biomedicine
Baranizadeh, Khadijeh K; Bahmanzadeh, Maryam M; Tavilani, Heidar H; Ghiasvand, Tayebeh T; Amiri, Iraj I; Yavangi, Mahnaz M; Shafiee, Gholamreza G
Publication Date: 2022-04

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 35822186
Variant Present in the following documents:
  • ijrb-20-299.pdf
View BVdb publication page



Genomics as a Clinical Decision Support Tool for Identifying and Addressing Modifiable Causes of Cognitive Decline and Improving Outcomes: Proof of Concept Support for This Personalized Medicine Strategy.

Frontiers In Aging Neuroscience
Hausman-Cohen, Sharon S; Bilich, Carol C; Kapoor, Sandeep S; Maristany, Eduardo E; Stefani, Anne A; Wilcox, Alexandra A
Publication Date: 2022

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 35517054
Variant Present in the following documents:
  • fnagi-14-862362.pdf
View BVdb publication page



A comparison of a ketogenic diet with a LowGI/nutrigenetic diet over 6 months for weight loss and 18-month follow-up.

Bmc Nutrition
Vranceanu, Maria M; Pickering, Craig C; Filip, Lorena L; Pralea, Ioana Ecaterina IE; Sundaram, Senthil S; Al-Saleh, Aseel A; Popa, Daniela-Saveta DS; Grimaldi, Keith A KA
Publication Date: 2020

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 32983551
Variant Present in the following documents:
  • Main text
  • 40795_2020_Article_370.pdf
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



Genetics of diabetic neuropathy: Systematic review, meta-analysis and trial sequential analysis.

Annals Of Clinical And Translational Neurology
Zhao, Yating Y; Zhu, Ruixia R; Wang, Danni D; Liu, Xu X
Publication Date: 2019-10

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 31557408
Variant Present in the following documents:
  • ACN3-6-1996.pdf
View BVdb publication page



Genetics of recurrent pregnancy loss among Iranian population.

Molecular Genetics & Genomic Medicine
Moghbeli, Meysam M
Publication Date: 2019-09

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 31364314
Variant Present in the following documents:
  • MGG3-7-e891.pdf
View BVdb publication page



Salivary MicroRNAs for Early Detection of Head and Neck Squamous Cell Carcinoma: A Case-Control Study in the High Altitude Mestizo Ecuadorian Population.

Biomed Research International
Salazar-Ruales, Carolina C; Arguello, Jessica-Viviana JV; López-Cortés, Andrés A; Cabrera-Andrade, Alejandro A; García-Cárdenas, Jennyfer M JM; Guevara-Ramírez, Patricia P; Peralta, Patricio P; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2018

Variant appearance in text: MTHFR: pro198leu
PubMed Link: 30584540
Variant Present in the following documents:
  • BMRI2018-9792730.pdf
View BVdb publication page



Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population.

Biomed Research International
López-Cortés, Andrés A; Leone, Paola E PE; Freire-Paspuel, Byron B; Arcos-Villacís, Nathaly N; Guevara-Ramírez, Patricia P; Rosales, Felipe F; Paz-Y-Miño, César C
Publication Date: 2018

Variant appearance in text: MTHFR: pro198leu
PubMed Link: 30065942
Variant Present in the following documents:
  • Main text
  • BMRI2018-7463832.pdf
View BVdb publication page



State of Art of Cancer Pharmacogenomics in Latin American Populations.

International Journal Of Molecular Sciences
López-Cortés, Andrés A; Guerrero, Santiago S; Redal, María Ana MA; Alvarado, Angel Tito AT; Quiñones, Luis Abel LA
Publication Date: 2017-05-23

Variant appearance in text: MTHFR: pro198leu
PubMed Link: 28545225
Variant Present in the following documents:
  • ijms-18-00639.pdf
View BVdb publication page



DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One
Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K
Publication Date: 2016

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 27073839
Variant Present in the following documents:
  • pone.0152725.s003.xlsx, sheet 1
View BVdb publication page



Genetics and genomic medicine in Ecuador.

Molecular Genetics & Genomic Medicine
Paz-Y-Miño, César C; Guillen Sacoto, María J MJ; Leone, Paola E PE
Publication Date: 2016-01

Variant appearance in text: MTHFR: pro198leu
PubMed Link: 26788533
Variant Present in the following documents:
  • MGG3-4-009.pdf
View BVdb publication page



Ethnic background and genetic variation in the evaluation of cancer risk: a systematic review.

Plos One
Jing, Lijun L; Su, Li L; Ring, Brian Z BZ
Publication Date: 2014

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 24901479
Variant Present in the following documents:
  • pone.0097522.pdf
View BVdb publication page



Genetics of redox systems and their relationship with cardiovascular disease.

Current Atherosclerosis Reports
Farbstein, Dan D; Soloveichik, Yitzchak Z YZ; Levy, Nina S NS; Levy, Andrew P AP
Publication Date: 2011-06

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 21374073
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of genetic variants in human longevity.

Ageing Research Reviews
Chung, Wen-Hung WH; Dao, Ro-Lan RL; Chen, Liang-Kung LK; Hung, Shuen-Iu SI
Publication Date: 2010-11

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 20708717
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Bmc Cancer
Küry, Sébastien S; Buecher, Bruno B; Robiou-du-Pont, Sébastien S; Scoul, Catherine C; Colman, Hélène H; Le Neel, Tanguy T; Le Houérou, Claire C; Faroux, Roger R; Ollivry, Jean J; Lafraise, Bernard B; Chupin, Louis-Dominique LD; Sébille, Véronique V; Bézieau, Stéphane S
Publication Date: 2008-11-07

Variant appearance in text: MTHFR: Pro198Leu
PubMed Link: 18992148
Variant Present in the following documents:
  • 1471-2407-8-326.pdf
View BVdb publication page