SMAD7 c.743-525A>G

Variant ID: 18-46448805-T-C

NM_005904.3(SMAD7):c.743-525A>G

This variant was identified in 14 publications

View GRCh38 version.




Publications:


PEACOCK: a machine learning approach to assess the validity of cell type-specific enhancer-gene regulatory relationships.

Npj Systems Biology And Applications
Mills, Caitlin C; Marconett, Crystal N CN; Lewinger, Juan Pablo JP; Mi, Huaiyu H
Publication Date: 2023-04-03

Variant appearance in text: rs6507874
PubMed Link: 37012250
Variant Present in the following documents:
  • Main text
  • 41540_2023_Article_270.pdf
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Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.

Genome Medicine
Xin, Junyi J; Du, Mulong M; Gu, Dongying D; Jiang, Kewei K; Wang, Mengyun M; Jin, Mingjuan M; Hu, Yeting Y; Ben, Shuai S; Chen, Silu S; Shao, Wei W; Li, Shuwei S; Chu, Haiyan H; Zhu, Linjun L; Li, Chen C; Chen, Kun K; Ding, Kefeng K; Zhang, Zhengdong Z; Shen, Hongbing H; Wang, Meilin M
Publication Date: 2023-01-24

Variant appearance in text: rs6507874
PubMed Link: 36694225
Variant Present in the following documents:
  • Main text
  • 13073_2023_Article_1156.pdf
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Evolutionary Origins of Metabolic Reprogramming in Cancer.

International Journal Of Molecular Sciences
García-Sancha, Natalia N; Corchado-Cobos, Roberto R; Gómez-Vecino, Aurora A; Jiménez-Navas, Alejandro A; Pérez-Baena, Manuel Jesús MJ; Blanco-Gómez, Adrián A; Holgado-Madruga, Marina M; Mao, Jian-Hua JH; Cañueto, Javier J; Castillo-Lluva, Sonia S; Mendiburu-Eliçabe, Marina M; Pérez-Losada, Jesús J
Publication Date: 2022-10-11

Variant appearance in text: rs6507874
PubMed Link: 36292921
Variant Present in the following documents:
  • ijms-23-12063.pdf
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Genome-Wide Association and Transcriptome-Wide Association Studies Identify Novel Susceptibility Genes Contributing to Colorectal Cancer.

Journal Of Immunology Research
Yin, Ruimin R; Song, Binbin B; Wang, Jingjing J; Shao, Chaodan C; Xu, Yufen Y; Jiang, HongGang H
Publication Date: 2022

Variant appearance in text: rs6507874
PubMed Link: 35812248
Variant Present in the following documents:
  • JIR2022-5794055.pdf
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Identification of potential functional variants and genes at 18q21.1 associated with the carcinogenesis of colorectal cancer.

Plos Genetics
Cheng, Xiaoqing X; Zhang, Fenglan F; Gong, Jingwen J; Li, Yige Y; Zhou, Dan D; Wang, Jing J; Vong, Eu Gene EG; Yuan, Ying Y; Lai, Maode M; Zhang, Dandan D
Publication Date: 2022-02

Variant appearance in text: rs6507874
PubMed Link: 35108261
Variant Present in the following documents:
  • Main text
  • pgen.1010050.pdf
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Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.

Nature Communications
Rashkin, Sara R SR; Graff, Rebecca E RE; Kachuri, Linda L; Thai, Khanh K KK; Alexeeff, Stacey E SE; Blatchins, Maruta A MA; Cavazos, Taylor B TB; Corley, Douglas A DA; Emami, Nima C NC; Hoffman, Joshua D JD; Jorgenson, Eric E; Kushi, Lawrence H LH; Meyers, Travis J TJ; Van Den Eeden, Stephen K SK; Ziv, Elad E; Habel, Laurel A LA; Hoffmann, Thomas J TJ; Sakoda, Lori C LC; Witte, John S JS
Publication Date: 2020-09-04

Variant appearance in text: rs6507874
PubMed Link: 32887889
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18246.pdf
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Association of Body Mass Index With Colorectal Cancer Risk by Genome-Wide Variants.

Journal Of The National Cancer Institute
Campbell, Peter T PT; Lin, Yi Y; Bien, Stephanie A SA; Figueiredo, Jane C JC; Harrison, Tabitha A TA; Guinter, Mark A MA; Berndt, Sonja I SI; Brenner, Hermann H; Chan, Andrew T AT; Chang-Claude, Jenny J; Gallinger, Steven J SJ; Gapstur, Susan M SM; Giles, Graham G GG; Giovannucci, Edward E; Gruber, Stephen B SB; Gunter, Marc M; Hoffmeister, Michael M; Jacobs, Eric J EJ; Jenkins, Mark A MA; Le Marchand, Loic L; Li, Li L; McLaughlin, John R JR; Murphy, Neil N; Milne, Roger L RL; Newcomb, Polly A PA; Newton, Christina C; Ogino, Shuji S; Potter, John D JD; Rennert, Gad G; Rennert, Hedy S HS; Robinson, Jennifer J; Sakoda, Lori C LC; Slattery, Martha L ML; Song, Yiqing Y; White, Emily E; Woods, Michael O MO; Casey, Graham G; Hsu, Li L; Peters, Ulrike U
Publication Date: 2021-01-04

Variant appearance in text: rs6507874
PubMed Link: 32324875
Variant Present in the following documents:
  • Main text
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The association between SMAD7 polymorphisms and colorectal cancer susceptibility as well as clinicopathological features in the Iranian population.

Gastroenterology And Hepatology From Bed To Bench
Akbari, Zahra Z; Safari-Alighiarloo, Nahid N; Asadzadeh Aghdaei, Hamid H; Vahedi, Mohsen M; Montazer Haghighi, Mahdi M; Matani Borkheili, Maryam M; Nazemalhosseini-Mojarad, Ehsan E; Zali, Mohammad Reza MR
Publication Date: 2020

Variant appearance in text: rs6507874
PubMed Link: 32190221
Variant Present in the following documents:
  • Main text
  • GHFBB-13-23.pdf
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Association of Selenoprotein and Selenium Pathway Genotypes with Risk of Colorectal Cancer and Interaction with Selenium Status.

Nutrients
Fedirko, Veronika V; Jenab, Mazda M; Méplan, Catherine C; Jones, Jeb S JS; Zhu, Wanzhe W; Schomburg, Lutz L; Siddiq, Afshan A; Hybsier, Sandra S; Overvad, Kim K; Tjønneland, Anne A; Omichessan, Hanane H; Perduca, Vittorio V; Boutron-Ruault, Marie-Christine MC; Kühn, Tilman T; Katzke, Verena V; Aleksandrova, Krasimira K; Trichopoulou, Antonia A; Karakatsani, Anna A; Kotanidou, Anastasia A; Tumino, Rosario R; Panico, Salvatore S; Masala, Giovanna G; Agnoli, Claudia C; Naccarati, Alessio A; Bueno-de-Mesquita, Bas B; Vermeulen, Roel C H RCH; Weiderpass, Elisabete E; Skeie, Guri G; Nøst, Therese Haugdahl TH; Lujan-Barroso, Leila L; Quirós, J Ramón JR; Huerta, José María JM; Rodríguez-Barranco, Miguel M; Barricarte, Aurelio A; Gylling, Björn B; Harlid, Sophia S; Bradbury, Kathryn E KE; Wareham, Nick N; Khaw, Kay-Tee KT; Gunter, Marc M; Murphy, Neil N; Freisling, Heinz H; Tsilidis, Kostas K; Aune, Dagfinn D; Riboli, Elio E; Hesketh, John E JE; Hughes, David J DJ
Publication Date: 2019-04-25

Variant appearance in text: rs6507874
PubMed Link: 31027226
Variant Present in the following documents:
  • Main text
  • nutrients-11-00935.pdf
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Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Human Genetics
Bien, Stephanie A SA; Su, Yu-Ru YR; Conti, David V DV; Harrison, Tabitha A TA; Qu, Conghui C; Guo, Xingyi X; Lu, Yingchang Y; Albanes, Demetrius D; Auer, Paul L PL; Banbury, Barbara L BL; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Buchanan, Daniel D DD; Caan, Bette J BJ; Campbell, Peter T PT; Carlson, Christopher S CS; Chan, Andrew T AT; Chang-Claude, Jenny J; Chen, Sai S; Connolly, Charles M CM; Easton, Douglas F DF; Feskens, Edith J M EJM; Gallinger, Steven S; Giles, Graham G GG; Gunter, Marc J MJ; Hampe, Jochen J; Huyghe, Jeroen R JR; Hoffmeister, Michael M; Hudson, Thomas J TJ; Jacobs, Eric J EJ; Jenkins, Mark A MA; Kampman, Ellen E; Kang, Hyun Min HM; Kühn, Tilman T; Küry, Sébastien S; Lejbkowicz, Flavio F; Le Marchand, Loic L; Milne, Roger L RL; Li, Li L; Li, Christopher I CI; Lindblom, Annika A; Lindor, Noralane M NM; Martín, Vicente V; McNeil, Caroline E CE; Melas, Marilena M; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Pharaoh, Paul D P PDP; Potter, John D JD; Qu, Chenxu C; Riboli, Elio E; Rennert, Gad G; Sala, Núria N; Schafmayer, Clemens C; Scacheri, Peter C PC; Schmit, Stephanie L SL; Severi, Gianluca G; Slattery, Martha L ML; Smith, Joshua D JD; Trichopoulou, Antonia A; Tumino, Rosario R; Ulrich, Cornelia M CM; van Duijnhoven, Fränzel J B FJB; Van Guelpen, Bethany B; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Abecasis, Goncalo R GR; Casey, Graham G; Nickerson, Deborah A DA; Gruber, Stephen B SB; Hsu, Li L; Zheng, Wei W; Peters, Ulrike U
Publication Date: 2019-04

Variant appearance in text: rs6507874
PubMed Link: 30820706
Variant Present in the following documents:
  • Main text
  • 439_2019_Article_1989.pdf
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Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Nature Genetics
Zhou, Wei W; Nielsen, Jonas B JB; Fritsche, Lars G LG; Dey, Rounak R; Gabrielsen, Maiken E ME; Wolford, Brooke N BN; LeFaive, Jonathon J; VandeHaar, Peter P; Gagliano, Sarah A SA; Gifford, Aliya A; Bastarache, Lisa A LA; Wei, Wei-Qi WQ; Denny, Joshua C JC; Lin, Maoxuan M; Hveem, Kristian K; Kang, Hyun Min HM; Abecasis, Goncalo R GR; Willer, Cristen J CJ; Lee, Seunggeun S
Publication Date: 2018-09

Variant appearance in text: rs6507874
PubMed Link: 30104761
Variant Present in the following documents:
  • NIHMS977253-supplement-1.pdf
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The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.

Nature Communications
Liu, Ning Qing NQ; Ter Huurne, Menno M; Nguyen, Luan N LN; Peng, Tianran T; Wang, Shuang-Yin SY; Studd, James B JB; Joshi, Onkar O; Ongen, Halit H; Bramsen, Jesper B JB; Yan, Jian J; Andersen, Claus L CL; Taipale, Jussi J; Dermitzakis, Emmanouil T ET; Houlston, Richard S RS; Hubner, Nina C NC; Stunnenberg, Hendrik G HG
Publication Date: 2017-02-14

Variant appearance in text: rs6507874
PubMed Link: 28195176
Variant Present in the following documents:
  • ncomms14418.pdf
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Genome-wide association study of colorectal cancer in Hispanics.

Carcinogenesis
Schmit, Stephanie L SL; Schumacher, Fredrick R FR; Edlund, Christopher K CK; Conti, David V DV; Ihenacho, Ugonna U; Wan, Peggy P; Van Den Berg, David D; Casey, Graham G; Fortini, Barbara K BK; Lenz, Heinz-Josef HJ; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Moreno-Macías, Hortensia H; Huerta-Chagoya, Alicia A; Ordóñez-Sánchez, María Luisa ML; Rodríguez-Guillén, Rosario R; Cruz-Bautista, Ivette I; Rodríguez-Torres, Maribel M; Muñóz-Hernández, Linda Liliana LL; Arellano-Campos, Olimpia O; Gómez, Donají D; Alvirde, Ulices U; González-Villalpando, Clicerio C; González-Villalpando, María Elena ME; Le Marchand, Loic L; Haiman, Christopher A CA; Figueiredo, Jane C JC
Publication Date: 2016-06

Variant appearance in text: rs6507874
PubMed Link: 27207650
Variant Present in the following documents:
  • Main text
  • bgw046.pdf
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Multiple functional risk variants in a SMAD7 enhancer implicate a colorectal cancer risk haplotype.

Plos One
Fortini, Barbara K BK; Tring, Stephanie S; Plummer, Sarah J SJ; Edlund, Christopher K CK; Moreno, Victor V; Bresalier, Robert S RS; Barry, Elizabeth L EL; Church, Timothy R TR; Figueiredo, Jane C JC; Casey, Graham G
Publication Date: 2014

Variant appearance in text: rs6507874
PubMed Link: 25375357
Variant Present in the following documents:
  • Main text
  • pone.0111914.pdf
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