MTHFR c.587-1332C>T

Variant ID: 1-11857788-G-A

NM_005957.4(MTHFR):c.587-1332C>T

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Associations of Homocysteine, Folate, and Vitamin B12 with Osteoarthritis: A Mendelian Randomization Study.

Nutrients
Hong, Haofeng H; Chen, Longting L; Zhong, Yiming Y; Yang, Zihuan Z; Li, Weishi W; Song, Chunli C; Leng, Huijie H
Publication Date: 2023-03-28

Variant appearance in text: rs17421511
PubMed Link: 37049476
Variant Present in the following documents:
  • nutrients-15-01636.pdf
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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: rs17421511
PubMed Link: 36467057
Variant Present in the following documents:
  • Main text
  • fphar-13-1075603.pdf
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Biomarkers associated with lower limb muscle function in individuals with sarcopenia: a systematic review.

Journal Of Cachexia, Sarcopenia And Muscle
Jones, Rebecca Louise RL; Paul, Lorna L; Steultjens, Martijn P M MPM; Smith, Stephanie Louise SL
Publication Date: 2022-08-17

Variant appearance in text: rs17421511
PubMed Link: 35977879
Variant Present in the following documents:
  • Main text
  • JCSM-13-2791.pdf
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Polygenic Models Partially Predict Muscle Size and Strength but Not Low Muscle Mass in Older Women.

Genes
Khanal, Praval P; Morse, Christopher I CI; He, Lingxiao L; Herbert, Adam J AJ; Onambélé-Pearson, Gladys L GL; Degens, Hans H; Thomis, Martine M; Williams, Alun G AG; Stebbings, Georgina K GK
Publication Date: 2022-05-30

Variant appearance in text: rs17421511
PubMed Link: 35741744
Variant Present in the following documents:
  • Main text
  • genes-13-00982.pdf
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Causal Effects of Homocysteine, Folate, and Cobalamin on Kidney Function: A Mendelian Randomization Study.

Nutrients
Park, Sehoon S; Lee, Soojin S; Kim, Yaerim Y; Cho, Semin S; Kim, Kwangsoo K; Kim, Yong Chul YC; Han, Seung Seok SS; Lee, Hajeong H; Lee, Jung Pyo JP; Joo, Kwon Wook KW; Lim, Chun Soo CS; Kim, Yon Su YS; Kim, Dong Ki DK
Publication Date: 2021-03-11

Variant appearance in text: rs17421511
PubMed Link: 33799553
Variant Present in the following documents:
  • Main text
  • nutrients-13-00906.pdf
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Investigating the causal effect of maternal vitamin B12 and folate levels on offspring birthweight.

International Journal Of Epidemiology
Moen, Gunn-Helen GH; Beaumont, Robin N RN; Grarup, Niels N; Sommer, Christine C; Shields, Beverley M BM; Lawlor, Deborah A DA; Freathy, Rachel M RM; Evans, David M DM; Warrington, Nicole M NM
Publication Date: 2021-03-03

Variant appearance in text: rs17421511
PubMed Link: 33347560
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Association of Multiple Gene Variants with Ageing Skeletal Muscle Phenotypes in Elderly Women.

Genes
Khanal, Praval P; He, Lingxiao L; Herbert, Adam J AJ; Stebbings, Georgina K GK; Onambele-Pearson, Gladys L GL; Degens, Hans H; Morse, Christopher I CI; Thomis, Martine M; Williams, Alun G AG
Publication Date: 2020-12-05

Variant appearance in text: rs17421511
PubMed Link: 33291384
Variant Present in the following documents:
  • Main text
  • genes-11-01459.pdf
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Clinical and Laboratory Associations with Methotrexate Metabolism Gene Polymorphisms in Rheumatoid Arthritis.

Journal Of Personalized Medicine
D'Cruz, Leon G LG; McEleney, Kevin G KG; Tan, Kyle B C KBC; Shukla, Priyank P; Gardiner, Philip V PV; Connolly, Patricia P; Conway, Caroline C; Cobice, Diego D; Gibson, David S DS
Publication Date: 2020-09-26

Variant appearance in text: rs17421511
PubMed Link: 32993083
Variant Present in the following documents:
  • Main text
  • jpm-10-00149.pdf
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Appraising the role of circulating concentrations of micro-nutrients in epithelial ovarian cancer risk: A Mendelian randomization analysis.

Scientific Reports
Guo, Yan Y; Lu, Yunlong Y; Jin, Hongchuan H
Publication Date: 2020-04-30

Variant appearance in text: rs17421511
PubMed Link: 32355161
Variant Present in the following documents:
  • 41598_2020_63909_MOESM1_ESM.pdf
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A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Scientific Reports
Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D
Publication Date: 2019-12-27

Variant appearance in text: rs17421511
PubMed Link: 31882953
Variant Present in the following documents:
  • 41598_2019_56494_MOESM1_ESM.pdf
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Methylenetetrahydrofolate reductase and psychiatric diseases.

Translational Psychiatry
Wan, Lin L; Li, Yuhong Y; Zhang, Zhengrong Z; Sun, Zuoli Z; He, Yi Y; Li, Rena R
Publication Date: 2018-11-05

Variant appearance in text: rs17421511
PubMed Link: 30397195
Variant Present in the following documents:
  • Main text
  • 41398_2018_Article_276.pdf
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Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.

Scientific Reports
Qiu, Qi Q; Huang, Jing J; Shu, Xiaoming X; Fan, Huizheng H; Zhou, Youwen Y; Xiao, Cheng C
Publication Date: 2017-03-07

Variant appearance in text: rs17421511
PubMed Link: 28266606
Variant Present in the following documents:
  • Main text
  • srep44015.pdf
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Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.

Environmental Health Perspectives
Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y
Publication Date: 2015-05

Variant appearance in text: rs17421511
PubMed Link: 25575156
Variant Present in the following documents:
  • ehp.1307883.s001.508.pdf
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Association of tagging SNPs in the MTHFR gene with risk of type 2 diabetes mellitus and serum homocysteine levels in a Chinese population.

Disease Markers
Wang, Han H; Hu, Cong C; Xiao, Shu-Hui SH; Wan, Bin B
Publication Date: 2014

Variant appearance in text: rs17421511
PubMed Link: 25165408
Variant Present in the following documents:
  • Main text
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Tagging SNPs in the MTHFR gene and risk of ischemic stroke in a Chinese population.

International Journal Of Molecular Sciences
Zhou, Bao-Sheng BS; Bu, Guo-Yun GY; Li, Mu M; Chang, Bin-Ge BG; Zhou, Yi-Pin YP
Publication Date: 2014-05-20

Variant appearance in text: rs17421511
PubMed Link: 24853127
Variant Present in the following documents:
  • Main text
  • ijms-15-08931.pdf
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Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.

Plos Genetics
Grarup, Niels N; Sulem, Patrick P; Sandholt, Camilla H CH; Thorleifsson, Gudmar G; Ahluwalia, Tarunveer S TS; Steinthorsdottir, Valgerdur V; Bjarnason, Helgi H; Gudbjartsson, Daniel F DF; Magnusson, Olafur T OT; Sparsø, Thomas T; Albrechtsen, Anders A; Kong, Augustine A; Masson, Gisli G; Tian, Geng G; Cao, Hongzhi H; Nie, Chao C; Kristiansen, Karsten K; Husemoen, Lise Lotte LL; Thuesen, Betina B; Li, Yingrui Y; Nielsen, Rasmus R; Linneberg, Allan A; Olafsson, Isleifur I; Eyjolfsson, Gudmundur I GI; Jørgensen, Torben T; Wang, Jun J; Hansen, Torben T; Thorsteinsdottir, Unnur U; Stefánsson, Kari K; Pedersen, Oluf O
Publication Date: 2013-06

Variant appearance in text: rs17421511
PubMed Link: 23754956
Variant Present in the following documents:
  • Main text
  • pgen.1003530.pdf
  • pgen.1003530.s010.pdf
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Comprehensive evaluation of one-carbon metabolism pathway gene variants and renal cell cancer risk.

Plos One
Gibson, Todd M TM; Brennan, Paul P; Han, Summer S; Karami, Sara S; Zaridze, David D; Janout, Vladimir V; Kollarova, Helen H; Bencko, Vladimir V; Navratilova, Marie M; Szeszenia-Dabrowska, Neonila N; Mates, Dana D; Slamova, Alena A; Pfeiffer, Ruth M RM; Stolzenberg-Solomon, Rachael Z RZ; Mayne, Susan T ST; Yeager, Meredith M; Chanock, Stephen S; Rothman, Nat N; Chow, Wong-Ho WH; Rosenberg, Philip S PS; Boffetta, Paolo P; Moore, Lee E LE
Publication Date: 2011

Variant appearance in text: rs17421511
PubMed Link: 22039442
Variant Present in the following documents:
  • Main text
  • pone.0026165.pdf
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Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.

Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Publication Date: 2011-04

Variant appearance in text: rs17421511
PubMed Link: 21274745
Variant Present in the following documents:
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Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome.

Genetic Epidemiology
Locke, Adam E AE; Dooley, Kenneth J KJ; Tinker, Stuart W SW; Cheong, Soo Yeon SY; Feingold, Eleanor E; Allen, Emily G EG; Freeman, Sallie B SB; Torfs, Claudine P CP; Cua, Clifford L CL; Epstein, Michael P MP; Wu, Michael C MC; Lin, Xihong X; Capone, George G; Sherman, Stephanie L SL; Bean, Lora J H LJ
Publication Date: 2010-09

Variant appearance in text: rs17421511
PubMed Link: 20718043
Variant Present in the following documents:
  • Main text
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Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Levine, A Joan AJ; Figueiredo, Jane C JC; Lee, Won W; Poynter, Jenny N JN; Conti, David D; Duggan, David J DJ; Campbell, Peter T PT; Newcomb, Polly P; Martinez, Maria Elena ME; Hopper, John L JL; Le Marchand, Loic L; Baron, John A JA; Limburg, Paul J PJ; Ulrich, Cornelia M CM; Haile, Robert W RW
Publication Date: 2010-01

Variant appearance in text: rs17421511
PubMed Link: 20056627
Variant Present in the following documents:
  • Main text
View BVdb publication page