Publications:

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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: rs12121543

PubMed Link: 36364857

Variant Present in the following documents:

• Main text
• nutrients-14-04594.pdf

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Association of Nitric Oxide Synthase Polymorphism and Coagulopathy in Patients with Osteonecrosis of the Femoral Head.

Journal Of Clinical Medicine

Wu, Cheng-Ta CT; Lin, Rio L C RLC; Sung, Pei-Hsun PH; Kuo, Feng-Chih FC; Yip, Hon-Kan HK; Lee, Mel S MS

Publication Date: 2022-08-24

Variant appearance in text: rs12121543

PubMed Link: 36078892

Variant Present in the following documents:

• jcm-11-04963.pdf

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs12121543

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Genetic polymorphism in Methylenetetrahydrofolate Reductase chloride transport protein 6 (MTHFR CLCN6) gene is associated with keratinocyte skin cancer in a cohort of renal transplant recipients.

Skin Health And Disease

Griffin, L L; Ho, L L; Akhurst, R J RJ; Arron, S T ST; Boggs, J M E JME; Conlon, P P; O'Kelly, P P; Toland, A E AE; Epstein, E H EH; Balmain, A A; Bastian, B C BC; Moloney, F J FJ; Murphy, G M GM; Laing, M E ME

Publication Date: 2022-06

Variant appearance in text: rs12121543

PubMed Link: 35677930

Variant Present in the following documents:

• Main text
• SKI2-2-e95.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: rs12121543

PubMed Link: 31882953

Variant Present in the following documents:

• 41598_2019_56494_MOESM1_ESM.pdf

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs12121543

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MTHFR: 1167-76G>T; rs12121543

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs12121543

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs12121543

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: rs12121543

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: rs12121543

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: rs12121543

PubMed Link: 24853127

Variant Present in the following documents:

• Main text
• ijms-15-08931.pdf

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Identifying multiple causative genes at a single GWAS locus.

Genome Research

Flister, Michael J MJ; Tsaih, Shirng-Wern SW; O'Meara, Caitlin C CC; Endres, Bradley B; Hoffman, Matthew J MJ; Geurts, Aron M AM; Dwinell, Melinda R MR; Lazar, Jozef J; Jacob, Howard J HJ; Moreno, Carol C

Publication Date: 2013-12

Variant appearance in text: rs12121543

PubMed Link: 24006081

Variant Present in the following documents:

• Main text

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A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.

Molecular Vision

Awadalla, Mona S MS; Burdon, Kathryn P KP; Thapa, Suman S SS; Hewitt, Alex W AW; Craig, Jamie E JE

Publication Date: 2012

Variant appearance in text: rs12121543

PubMed Link: 22933837

Variant Present in the following documents:

• Main text
• mv-v18-2247.pdf

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Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2012-02

Variant appearance in text: rs12121543

PubMed Link: 22241680

Variant Present in the following documents:

• Main text

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs12121543

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

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Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.

Bmc Medical Genetics

Wernimont, Susan M SM; Clark, Andrew G AG; Stover, Patrick J PJ; Wells, Martin T MT; Litonjua, Augusto A AA; Weiss, Scott T ST; Gaziano, J Michael JM; Tucker, Katherine L KL; Baccarelli, Andrea A; Schwartz, Joel J; Bollati, Valentina V; Cassano, Patricia A PA

Publication Date: 2011-11-21

Variant appearance in text: rs12121543

PubMed Link: 22103680

Variant Present in the following documents:

• Main text
• 1471-2350-12-150.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: rs12121543

PubMed Link: 22039442

Variant Present in the following documents:

• Main text

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Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.

Human Molecular Genetics

Del Greco M, Fabiola F; Pattaro, Cristian C; Luchner, Andreas A; Pichler, Irene I; Winkler, Thomas T; Hicks, Andrew A AA; Fuchsberger, Christian C; Franke, Andre A; Melville, Scott A SA; Peters, Annette A; Wichmann, H Erich HE; Schreiber, Stefan S; Heid, Iris M IM; Krawczak, Michael M; Minelli, Cosetta C; Wiedermann, Christian J CJ; Pramstaller, Peter P PP

Publication Date: 2011-04-15

Variant appearance in text: rs12121543

PubMed Link: 21273288

Variant Present in the following documents:

• Main text
• ddr035.pdf

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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: rs12121543

PubMed Link: 20056627

Variant Present in the following documents:

• Main text

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