SMAD3 c.207-14637C>T

Variant ID: 15-67442596-C-T

NM_005902.3(SMAD3):c.207-14637C>T

This variant was identified in 66 publications

View GRCh38 version.




Publications:


TGFβ signaling pathways in human health and disease.

Frontiers In Molecular Biosciences
Chen, Pei-Yu PY; Qin, Lingfeng L; Simons, Michael M
Publication Date: 2023

Variant appearance in text: rs17293632
PubMed Link: 37325472
Variant Present in the following documents:
  • Main text
  • fmolb-10-1113061.pdf
View BVdb publication page



Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.

Cell Genomics
Zhou, Wei W; Kanai, Masahiro M; Wu, Kuan-Han H KH; Rasheed, Humaira H; Tsuo, Kristin K; Hirbo, Jibril B JB; Wang, Ying Y; Bhattacharya, Arjun A; Zhao, Huiling H; Namba, Shinichi S; Surakka, Ida I; Wolford, Brooke N BN; Lo Faro, Valeria V; Lopera-Maya, Esteban A EA; Läll, Kristi K; Favé, Marie-Julie MJ; Partanen, Juulia J JJ; Chapman, Sinéad B SB; Karjalainen, Juha J; Kurki, Mitja M; Maasha, Mutaamba M; Brumpton, Ben M BM; Chavan, Sameer S; Chen, Tzu-Ting TT; Daya, Michelle M; Ding, Yi Y; Feng, Yen-Chen A YA; Guare, Lindsay A LA; Gignoux, Christopher R CR; Graham, Sarah E SE; Hornsby, Whitney E WE; Ingold, Nathan N; Ismail, Said I SI; Johnson, Ruth R; Laisk, Triin T; Lin, Kuang K; Lv, Jun J; Millwood, Iona Y IY; Moreno-Grau, Sonia S; Nam, Kisung K; Palta, Priit P; Pandit, Anita A; Preuss, Michael H MH; Saad, Chadi C; Setia-Verma, Shefali S; Thorsteinsdottir, Unnur U; Uzunovic, Jasmina J; Verma, Anurag A; Zawistowski, Matthew M; Zhong, Xue X; Afifi, Nahla N; Al-Dabhani, Kawthar M KM; Al Thani, Asma A; Bradford, Yuki Y; Campbell, Archie A; Crooks, Kristy K; de Bock, Geertruida H GH; Damrauer, Scott M SM; Douville, Nicholas J NJ; Finer, Sarah S; Fritsche, Lars G LG; Fthenou, Eleni E; Gonzalez-Arroyo, Gilberto G; Griffiths, Christopher J CJ; Guo, Yu Y; Hunt, Karen A KA; Ioannidis, Alexander A; Jansonius, Nomdo M NM; Konuma, Takahiro T; Lee, Ming Ta Michael MTM; Lopez-Pineda, Arturo A; Matsuda, Yuta Y; Marioni, Riccardo E RE; Moatamed, Babak B; Nava-Aguilar, Marco A MA; Numakura, Kensuke K; Patil, Snehal S; Rafaels, Nicholas N; Richmond, Anne A; Rojas-Muñoz, Agustin A; Shortt, Jonathan A JA; Straub, Peter P; Tao, Ran R; Vanderwerff, Brett B; Vernekar, Manvi M; Veturi, Yogasudha Y; Barnes, Kathleen C KC; Boezen, Marike M; Chen, Zhengming Z; Chen, Chia-Yen CY; Cho, Judy J; Smith, George Davey GD; Finucane, Hilary K HK; Franke, Lude L; Gamazon, Eric R ER; Ganna, Andrea A; Gaunt, Tom R TR; Ge, Tian T; Huang, Hailiang H; Huffman, Jennifer J; Katsanis, Nicholas N; Koskela, Jukka T JT; Lajonchere, Clara C; Law, Matthew H MH; Li, Liming L; Lindgren, Cecilia M CM; Loos, Ruth J F RJF; MacGregor, Stuart S; Matsuda, Koichi K; Olsen, Catherine M CM; Porteous, David J DJ; Shavit, Jordan A JA; Snieder, Harold H; Takano, Tomohiro T; Trembath, Richard C RC; Vonk, Judith M JM; Whiteman, David C DC; Wicks, Stephen J SJ; Wijmenga, Cisca C; Wright, John J; Zheng, Jie J; Zhou, Xiang X; Awadalla, Philip P; Boehnke, Michael M; Bustamante, Carlos D CD; Cox, Nancy J NJ; Fatumo, Segun S; Geschwind, Daniel H DH; Hayward, Caroline C; Hveem, Kristian K; Kenny, Eimear E EE; Lee, Seunggeun S; Lin, Yen-Feng YF; Mbarek, Hamdi H; Mägi, Reedik R; Martin, Hilary C HC; Medland, Sarah E SE; Okada, Yukinori Y; Palotie, Aarno V AV; Pasaniuc, Bogdan B; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Sanna, Serena S; Smoller, Jordan W JW; Stefansson, Kari K; van Heel, David A DA; Walters, Robin G RG; Zöllner, Sebastian S; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Martin, Alicia R AR; Willer, Cristen J CJ; Daly, Mark J MJ; Neale, Benjamin M BM
Publication Date: 2022-10-12

Variant appearance in text: rs17293632
PubMed Link: 36777996
Variant Present in the following documents:
  • mmc8.xlsx, sheet 1
View BVdb publication page



FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2023-01

Variant appearance in text: rs17293632
PubMed Link: 36653562
Variant Present in the following documents:
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.

Nature Communications
Saarentaus, Elmo C EC; Karjalainen, Juha J; Rämö, Joel T JT; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Mehtonen, Juha J; Hautakangas, Heidi H; Ruotsalainen, Sanni S; Tamlander, Max M; Mars, Nina N; , ; Toppila-Salmi, Sanna S; Pirinen, Matti M; Kurki, Mitja M; Ripatti, Samuli S; Daly, Mark M; Palotie, Tuula T; Mäkitie, Antti A; Palotie, Aarno A
Publication Date: 2023-01-18

Variant appearance in text: rs17293632
PubMed Link: 36653354
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_33626.pdf
View BVdb publication page



Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.

Diagnostics (Basel, Switzerland)
Zarkasi, Khairul Anwar KA; Abdullah, Noraidatulakma N; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R
Publication Date: 2022-10-21

Variant appearance in text: rs17293632
PubMed Link: 36292250
Variant Present in the following documents:
  • diagnostics-12-02561.pdf
View BVdb publication page



Smad3 regulates smooth muscle cell fate and mediates adverse remodeling and calcification of the atherosclerotic plaque.

Nature Cardiovascular Research
Cheng, Paul P; Wirka, Robert C RC; Kim, Juyong Brian JB; Kim, Hyun-Jung HJ; Nguyen, Trieu T; Kundu, Ramendra R; Zhao, Quanyi Q; Sharma, Disha D; Pedroza, Albert A; Nagao, Manabu M; Iyer, Dharini D; Fischbein, Michael P MP; Quertermous, Thomas T
Publication Date: 2022-04

Variant appearance in text: rs17293632
PubMed Link: 36246779
Variant Present in the following documents:
  • Main text
  • nihms-1785285.pdf
View BVdb publication page



Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.

Nature Genetics
Turner, Adam W AW; Hu, Shengen Shawn SS; Mosquera, Jose Verdezoto JV; Ma, Wei Feng WF; Hodonsky, Chani J CJ; Wong, Doris D; Auguste, Gaëlle G; Song, Yipei Y; Sol-Church, Katia K; Farber, Emily E; Kundu, Soumya S; Kundaje, Anshul A; Lopez, Nicolas G NG; Ma, Lijiang L; Ghosh, Saikat Kumar B SKB; Onengut-Gumuscu, Suna S; Ashley, Euan A EA; Quertermous, Thomas T; Finn, Aloke V AV; Leeper, Nicholas J NJ; Kovacic, Jason C JC; Björkegren, Johan L M JLM; Zang, Chongzhi C; Miller, Clint L CL
Publication Date: 2022-06

Variant appearance in text: rs17293632
PubMed Link: 35590109
Variant Present in the following documents:
  • Main text
  • nihms-1794783.pdf
View BVdb publication page



Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations.

Genome Research
Toropainen, Anu A; Stolze, Lindsey K LK; Örd, Tiit T; Whalen, Michael B MB; Torrell, Paula Martí PM; Link, Verena M VM; Kaikkonen, Minna U MU; Romanoski, Casey E CE
Publication Date: 2022-03

Variant appearance in text: rs17293632
PubMed Link: 35193936
Variant Present in the following documents:
  • Main text
  • 409.pdf
View BVdb publication page



Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.

Gastroenterology Report
Ben-Yosef, Noam N; Frampton, Matthew M; Schiff, Elena R ER; Daher, Saleh S; Abu Baker, Fadi F; Safadi, Rifaat R; Israeli, Eran E; Segal, Anthony W AW; Levine, Adam P AP
Publication Date: 2021-12

Variant appearance in text: rs17293632
PubMed Link: 34925849
Variant Present in the following documents:
  • Main text
  • goab007.pdf
View BVdb publication page



Immune Regulation in Time and Space: The Role of Local- and Long-Range Genomic Interactions in Regulating Immune Responses.

Frontiers In Immunology
Devenish, Liam P LP; Mhlanga, Musa M MM; Negishi, Yutaka Y
Publication Date: 2021

Variant appearance in text: rs17293632
PubMed Link: 34046034
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci.

Circulation Research
Örd, Tiit T; Õunap, Kadri K; Stolze, Lindsey K LK; Aherrahrou, Redouane R; Nurminen, Valtteri V; Toropainen, Anu A; Selvarajan, Ilakya I; Lönnberg, Tapio T; Aavik, Einari E; Ylä-Herttuala, Seppo S; Civelek, Mete M; Romanoski, Casey E CE; Kaikkonen, Minna U MU
Publication Date: 2021-07-09

Variant appearance in text: rs17293632
PubMed Link: 34024118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Landscape of allele-specific transcription factor binding in the human genome.

Nature Communications
Abramov, Sergey S; Boytsov, Alexandr A; Bykova, Daria D; Penzar, Dmitry D DD; Yevshin, Ivan I; Kolmykov, Semyon K SK; Fridman, Marina V MV; Favorov, Alexander V AV; Vorontsov, Ilya E IE; Baulin, Eugene E; Kolpakov, Fedor F; Makeev, Vsevolod J VJ; Kulakovskiy, Ivan V IV
Publication Date: 2021-05-12

Variant appearance in text: rs17293632
PubMed Link: 33980847
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomization as an approach to assess causal effects of inflammatory bowel disease on atrial fibrillation.

Aging
Chen, LaiTe L; Fu, GuoSheng G; Jiang, ChenYang C
Publication Date: 2021-04-06

Variant appearance in text: rs17293632
PubMed Link: 33824227
Variant Present in the following documents:
  • Main text
  • aging-13-202906.pdf
View BVdb publication page



Genetics and Epigenetics in Asthma.

International Journal Of Molecular Sciences
Ntontsi, Polyxeni P; Photiades, Andreas A; Zervas, Eleftherios E; Xanthou, Georgina G; Samitas, Konstantinos K
Publication Date: 2021-02-27

Variant appearance in text: rs17293632
PubMed Link: 33673725
Variant Present in the following documents:
  • Main text
  • ijms-22-02412.pdf
View BVdb publication page



Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease.

American Journal Of Human Genetics
Selvarajan, Ilakya I; Toropainen, Anu A; Garske, Kristina M KM; López Rodríguez, Maykel M; Ko, Arthur A; Miao, Zong Z; Kaminska, Dorota D; Õunap, Kadri K; Örd, Tiit T; Ravindran, Aarthi A; Liu, Oscar H OH; Moreau, Pierre R PR; Jawahar Deen, Ashik A; Männistö, Ville V; Pan, Calvin C; Levonen, Anna-Liisa AL; Lusis, Aldons J AJ; Heikkinen, Sami S; Romanoski, Casey E CE; Pihlajamäki, Jussi J; Pajukanta, Päivi P; Kaikkonen, Minna U MU
Publication Date: 2021-03-04

Variant appearance in text: rs17293632
PubMed Link: 33626337
Variant Present in the following documents:
  • Main text
View BVdb publication page



Conserved regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals.

Nature Communications
Alizada, Azad A; Khyzha, Nadiya N; Wang, Liangxi L; Antounians, Lina L; Chen, Xiaoting X; Khor, Melvin M; Liang, Minggao M; Rathnakumar, Kumaragurubaran K; Weirauch, Matthew T MT; Medina-Rivera, Alejandra A; Fish, Jason E JE; Wilson, Michael D MD
Publication Date: 2021-01-25

Variant appearance in text: rs17293632
PubMed Link: 33495464
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20765.pdf
View BVdb publication page



SMAD3 Hypomethylation as a Biomarker for Early Prediction of Colorectal Cancer.

International Journal Of Molecular Sciences
Ansar, Muhamad M; Wang, Chun-Jung CJ; Wang, Yu-Han YH; Shen, Tsung-Hua TH; Hung, Chin-Sheng CS; Chang, Shih-Ching SC; Lin, Ruo-Kai RK
Publication Date: 2020-10-07

Variant appearance in text: rs17293632
PubMed Link: 33036415
Variant Present in the following documents:
  • Main text
  • ijms-21-07395.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs17293632
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



The contribution of non-coding regulatory elements to cardiovascular disease.

Open Biology
Villar, Diego D; Frost, Stephanie S; Deloukas, Panos P; Tinker, Andrew A
Publication Date: 2020-07

Variant appearance in text: rs17293632
PubMed Link: 32603637
Variant Present in the following documents:
  • Main text
  • rsob-10-200088.pdf
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A practical view of fine-mapping and gene prioritization in the post-genome-wide association era.

Open Biology
Broekema, R V RV; Bakker, O B OB; Jonkers, I H IH
Publication Date: 2020-01

Variant appearance in text: rs17293632
PubMed Link: 31937202
Variant Present in the following documents:
  • Main text
  • rsob-10-190221.pdf
View BVdb publication page



CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies.

Nucleic Acids Research
Wang, Jianhua J; Huang, Dandan D; Zhou, Yao Y; Yao, Hongcheng H; Liu, Huanhuan H; Zhai, Sinan S; Wu, Chengwei C; Zheng, Zhanye Z; Zhao, Ke K; Wang, Zhao Z; Yi, Xianfu X; Zhang, Shijie S; Liu, Xiaorong X; Liu, Zipeng Z; Chen, Kexin K; Yu, Ying Y; Sham, Pak Chung PC; Li, Mulin Jun MJ
Publication Date: 2020-01-08

Variant appearance in text: rs17293632
PubMed Link: 31691819
Variant Present in the following documents:
  • Main text
  • gkz1026.pdf
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2018 George Lyman Duff Memorial Lecture: Genetics and Genomics of Coronary Artery Disease: A Decade of Progress.

Arteriosclerosis, Thrombosis, And Vascular Biology
McPherson, Ruth R
Publication Date: 2019-10

Variant appearance in text: rs17293632
PubMed Link: 31462092
Variant Present in the following documents:
  • Main text
  • atv-39-1925.pdf
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Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.

Human Molecular Genetics
Johansson, Åsa Å; Rask-Andersen, Mathias M; Karlsson, Torgny T; Ek, Weronica E WE
Publication Date: 2019-12-01

Variant appearance in text: rs17293632
PubMed Link: 31361310
Variant Present in the following documents:
  • s8_table_ddz175.xlsx, sheet 1
View BVdb publication page



Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.

Genes
Hińcza, Kinga K; Kowalik, Artur A; Kowalska, Aldona A
Publication Date: 2019-06-26

Variant appearance in text: rs17293632
PubMed Link: 31247975
Variant Present in the following documents:
  • Main text
View BVdb publication page



TCF21 and AP-1 interact through epigenetic modifications to regulate coronary artery disease gene expression.

Genome Medicine
Zhao, Quanyi Q; Wirka, Robert R; Nguyen, Trieu T; Nagao, Manabu M; Cheng, Paul P; Miller, Clint L CL; Kim, Juyong Brian JB; Pjanic, Milos M; Quertermous, Thomas T
Publication Date: 2019-05-02

Variant appearance in text: rs17293632
PubMed Link: 31014396
Variant Present in the following documents:
  • Main text
  • 13073_2019_Article_635.pdf
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Constructing tissue-specific transcriptional regulatory networks via a Markov random field.

Bmc Genomics
Ma, Shining S; Jiang, Tao T; Jiang, Rui R
Publication Date: 2018-12-31

Variant appearance in text: rs17293632
PubMed Link: 30598101
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_5277.pdf
View BVdb publication page



Coronary artery disease genes SMAD3 and TCF21 promote opposing interactive genetic programs that regulate smooth muscle cell differentiation and disease risk.

Plos Genetics
Iyer, Dharini D; Zhao, Quanyi Q; Wirka, Robert R; Naravane, Ameay A; Nguyen, Trieu T; Liu, Boxiang B; Nagao, Manabu M; Cheng, Paul P; Miller, Clint L CL; Kim, Juyong Brian JB; Pjanic, Milos M; Quertermous, Thomas T
Publication Date: 2018-10

Variant appearance in text: rs17293632
PubMed Link: 30307970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrating Genes Affecting Coronary Artery Disease in Functional Networks by Multi-OMICs Approach.

Frontiers In Cardiovascular Medicine
Vilne, Baiba B; Schunkert, Heribert H
Publication Date: 2018

Variant appearance in text: rs17293632
PubMed Link: 30065929
Variant Present in the following documents:
  • Main text
  • fcvm-05-00089.pdf
View BVdb publication page



GWAS Reveal Targets in Vessel Wall Pathways to Treat Coronary Artery Disease.

Frontiers In Cardiovascular Medicine
Turner, Adam W AW; Wong, Doris D; Dreisbach, Caitlin N CN; Miller, Clint L CL
Publication Date: 2018

Variant appearance in text: rs17293632
PubMed Link: 29988570
Variant Present in the following documents:
  • Main text
  • fcvm-05-00072.pdf
View BVdb publication page



Genetic determinants of co-accessible chromatin regions in activated T cells across humans.

Nature Genetics
Gate, Rachel E RE; Cheng, Christine S CS; Aiden, Aviva P AP; Siba, Atsede A; Tabaka, Marcin M; Lituiev, Dmytro D; Machol, Ido I; Gordon, M Grace MG; Subramaniam, Meena M; Shamim, Muhammad M; Hougen, Kendrick L KL; Wortman, Ivo I; Huang, Su-Chen SC; Durand, Neva C NC; Feng, Ting T; De Jager, Philip L PL; Chang, Howard Y HY; Aiden, Erez Lieberman EL; Benoist, Christophe C; Beer, Michael A MA; Ye, Chun J CJ; Regev, Aviv A
Publication Date: 2018-08

Variant appearance in text: rs17293632
PubMed Link: 29988122
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits.

Nucleic Acids Research
Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Zheng, Zhanye Z; Wang, Panwen P; Xuan, Chenghao C; Sham, Pak Chung PC; Wang, Junwen J; Li, Mulin Jun MJ
Publication Date: 2018-07-02

Variant appearance in text: rs17293632
PubMed Link: 29771388
Variant Present in the following documents:
  • Main text
  • gky407.pdf
View BVdb publication page



Genome-wide association studies in Crohn's disease: Past, present and future.

Clinical & Translational Immunology
Verstockt, Bram B; Smith, Kenneth Gc KG; Lee, James C JC
Publication Date: 2018

Variant appearance in text: rs17293632
PubMed Link: 29484179
Variant Present in the following documents:
  • Main text
View BVdb publication page



IW-Scoring: an Integrative Weighted Scoring framework for annotating and prioritizing genetic variations in the noncoding genome.

Nucleic Acids Research
Wang, Jun J; Dayem Ullah, Abu Z AZ; Chelala, Claude C
Publication Date: 2018-05-04

Variant appearance in text: rs17293632
PubMed Link: 29390075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lessons from ten years of genome-wide association studies of asthma.

Clinical & Translational Immunology
Vicente, Cristina T CT; Revez, Joana A JA; Ferreira, Manuel A R MAR
Publication Date: 2017-12

Variant appearance in text: rs17293632
PubMed Link: 29333270
Variant Present in the following documents:
  • Main text
  • cti201754a.pdf
View BVdb publication page



The role of SMAD3 in the genetic predisposition to papillary thyroid carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Yanqiang Y; He, Huiling H; Liyanarachchi, Sandya S; Genutis, Luke K LK; Li, Wei W; Yu, Lianbo L; Phay, John E JE; Shen, Rulong R; Brock, Pamela P; de la Chapelle, Albert A
Publication Date: 2018-09

Variant appearance in text: rs17293632
PubMed Link: 29300379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

Nature Genetics
Demenais, Florence F; Margaritte-Jeannin, Patricia P; Barnes, Kathleen C KC; Cookson, William O C WOC; Altmüller, Janine J; Ang, Wei W; Barr, R Graham RG; Beaty, Terri H TH; Becker, Allan B AB; Beilby, John J; Bisgaard, Hans H; Bjornsdottir, Unnur Steina US; Bleecker, Eugene E; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Bouzigon, Emmanuelle E; Brightling, Christopher E CE; Brossard, Myriam M; Brusselle, Guy G GG; Burchard, Esteban E; Burkart, Kristin M KM; Bush, Andrew A; Chan-Yeung, Moira M; Chung, Kian Fan KF; Couto Alves, Alexessander A; Curtin, John A JA; Custovic, Adnan A; Daley, Denise D; de Jongste, Johan C JC; Del-Rio-Navarro, Blanca E BE; Donohue, Kathleen M KM; Duijts, Liesbeth L; Eng, Celeste C; Eriksson, Johan G JG; Farrall, Martin M; Fedorova, Yuliya Y; Feenstra, Bjarke B; Ferreira, Manuel A MA; , ; Freidin, Maxim B MB; Gajdos, Zofia Z; Gauderman, Jim J; Gehring, Ulrike U; Geller, Frank F; Genuneit, Jon J; Gharib, Sina A SA; Gilliland, Frank F; Granell, Raquel R; Graves, Penelope E PE; Gudbjartsson, Daniel F DF; Haahtela, Tari T; Heckbert, Susan R SR; Heederik, Dick D; Heinrich, Joachim J; Heliövaara, Markku M; Henderson, John J; Himes, Blanca E BE; Hirose, Hiroshi H; Hirschhorn, Joel N JN; Hofman, Albert A; Holt, Patrick P; Hottenga, Jouke J; Hudson, Thomas J TJ; Hui, Jennie J; Imboden, Medea M; Ivanov, Vladimir V; Jaddoe, Vincent W V VWV; James, Alan A; Janson, Christer C; Jarvelin, Marjo-Riitta MR; Jarvis, Deborah D; Jones, Graham G; Jonsdottir, Ingileif I; Jousilahti, Pekka P; Kabesch, Michael M; Kähönen, Mika M; Kantor, David B DB; Karunas, Alexandra S AS; Khusnutdinova, Elza E; Koppelman, Gerard H GH; Kozyrskyj, Anita L AL; Kreiner, Eskil E; Kubo, Michiaki M; Kumar, Rajesh R; Kumar, Ashish A; Kuokkanen, Mikko M; Lahousse, Lies L; Laitinen, Tarja T; Laprise, Catherine C; Lathrop, Mark M; Lau, Susanne S; Lee, Young-Ae YA; Lehtimäki, Terho T; Letort, Sébastien S; Levin, Albert M AM; Li, Guo G; Liang, Liming L; Loehr, Laura R LR; London, Stephanie J SJ; Loth, Daan W DW; Manichaikul, Ani A; Marenholz, Ingo I; Martinez, Fernando J FJ; Matheson, Melanie C MC; Mathias, Rasika A RA; Matsumoto, Kenji K; Mbarek, Hamdi H; McArdle, Wendy L WL; Melbye, Mads M; Melén, Erik E; Meyers, Deborah D; Michel, Sven S; Mohamdi, Hamida H; Musk, Arthur W AW; Myers, Rachel A RA; Nieuwenhuis, Maartje A E MAE; Noguchi, Emiko E; O'Connor, George T GT; Ogorodova, Ludmila M LM; Palmer, Cameron D CD; Palotie, Aarno A; Park, Julie E JE; Pennell, Craig E CE; Pershagen, Göran G; Polonikov, Alexey A; Postma, Dirkje S DS; Probst-Hensch, Nicole N; Puzyrev, Valery P VP; Raby, Benjamin A BA; Raitakari, Olli T OT; Ramasamy, Adaikalavan A; Rich, Stephen S SS; Robertson, Colin F CF; Romieu, Isabelle I; Salam, Muhammad T MT; Salomaa, Veikko V; Schlünssen, Vivi V; Scott, Robert R; Selivanova, Polina A PA; Sigsgaard, Torben T; Simpson, Angela A; Siroux, Valérie V; Smith, Lewis J LJ; Solodilova, Maria M; Standl, Marie M; Stefansson, Kari K; Strachan, David P DP; Stricker, Bruno H BH; Takahashi, Atsushi A; Thompson, Philip J PJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tiesler, Carla M T CMT; Torgerson, Dara G DG; Tsunoda, Tatsuhiko T; Uitterlinden, André G AG; van der Valk, Ralf J P RJP; Vaysse, Amaury A; Vedantam, Sailaja S; von Berg, Andrea A; von Mutius, Erika E; Vonk, Judith M JM; Waage, Johannes J; Wareham, Nick J NJ; Weiss, Scott T ST; White, Wendy B WB; Wickman, Magnus M; Widén, Elisabeth E; Willemsen, Gonneke G; Williams, L Keoki LK; Wouters, Inge M IM; Yang, James J JJ; Zhao, Jing Hua JH; Moffatt, Miriam F MF; Ober, Carole C; Nicolae, Dan L DL
Publication Date: 2018-01

Variant appearance in text: rs17293632
PubMed Link: 29273806
Variant Present in the following documents:
  • NIHMS919076-supplement-8.pdf
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Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation
Cheema, Asma N AN; Rosenthal, Samantha L SL; Ilyas Kamboh, M M
Publication Date: 2017-01-01

Variant appearance in text: rs17293632
PubMed Link: 29220472
Variant Present in the following documents:
  • Main text
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Transforming growth factor-β signaling pathway-associated genes SMAD2 and TGFBR2 are implicated in metabolic syndrome in a Taiwanese population.

Scientific Reports
Lin, Eugene E; Kuo, Po-Hsiu PH; Liu, Yu-Li YL; Yang, Albert C AC; Tsai, Shih-Jen SJ
Publication Date: 2017-10-19

Variant appearance in text: rs17293632
PubMed Link: 29051557
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_14025.pdf
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Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs17293632
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
  • NIHMS72714-supplement-Supplementary_Information.pdf
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Transcriptional networks specifying homeostatic and inflammatory programs of gene expression in human aortic endothelial cells.

Elife
Hogan, Nicholas T NT; Whalen, Michael B MB; Stolze, Lindsey K LK; Hadeli, Nizar K NK; Lam, Michael T MT; Springstead, James R JR; Glass, Christopher K CK; Romanoski, Casey E CE
Publication Date: 2017-06-06

Variant appearance in text: rs17293632
PubMed Link: 28585919
Variant Present in the following documents:
  • Main text
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Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Journal Of The American College Of Cardiology
Webb, Thomas R TR; Erdmann, Jeanette J; Stirrups, Kathleen E KE; Stitziel, Nathan O NO; Masca, Nicholas G D NG; Jansen, Henning H; Kanoni, Stavroula S; Nelson, Christopher P CP; Ferrario, Paola G PG; König, Inke R IR; Eicher, John D JD; Johnson, Andrew D AD; Hamby, Stephen E SE; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Schadt, Eric E EE; Björkegren, Johan L M JL; Weeke, Peter E PE; Auer, Paul L PL; Schick, Ursula M UM; Lu, Yingchang Y; Zhang, He H; Dube, Marie-Pierre MP; Goel, Anuj A; Farrall, Martin M; Peloso, Gina M GM; Won, Hong-Hee HH; Do, Ron R; van Iperen, Erik E; Kruppa, Jochen J; Mahajan, Anubha A; Scott, Robert A RA; Willenborg, Christina C; Braund, Peter S PS; van Capelleveen, Julian C JC; Doney, Alex S F AS; Donnelly, Louise A LA; Asselta, Rosanna R; Merlini, Pier A PA; Duga, Stefano S; Marziliano, Nicola N; Denny, Josh C JC; Shaffer, Christian C; El-Mokhtari, Nour Eddine NE; Franke, Andre A; Heilmann, Stefanie S; Hengstenberg, Christian C; Hoffmann, Per P; Holmen, Oddgeir L OL; Hveem, Kristian K; Jansson, Jan-Håkan JH; Jöckel, Karl-Heinz KH; Kessler, Thorsten T; Kriebel, Jennifer J; Laugwitz, Karl L KL; Marouli, Eirini E; Martinelli, Nicola N; McCarthy, Mark I MI; Van Zuydam, Natalie R NR; Meisinger, Christa C; Esko, Tõnu T; Mihailov, Evelin E; Escher, Stefan A SA; Alver, Maris M; Moebus, Susanne S; Morris, Andrew D AD; Virtamo, Jarma J; Nikpay, Majid M; Olivieri, Oliviero O; Provost, Sylvie S; AlQarawi, Alaa A; Robertson, Neil R NR; Akinsansya, Karen O KO; Reilly, Dermot F DF; Vogt, Thomas F TF; Yin, Wu W; Asselbergs, Folkert W FW; Kooperberg, Charles C; Jackson, Rebecca D RD; Stahl, Eli E; Müller-Nurasyid, Martina M; Strauch, Konstantin K; Varga, Tibor V TV; Waldenberger, Melanie M; , ; Zeng, Lingyao L; Chowdhury, Rajiv R; Salomaa, Veikko V; Ford, Ian I; Jukema, J Wouter JW; Amouyel, Philippe P; Kontto, Jukka J; , ; Nordestgaard, Børge G BG; Ferrières, Jean J; Saleheen, Danish D; Sattar, Naveed N; Surendran, Praveen P; Wagner, Aline A; Young, Robin R; Howson, Joanna M M JM; Butterworth, Adam S AS; Danesh, John J; Ardissino, Diego D; Bottinger, Erwin P EP; Erbel, Raimund R; Franks, Paul W PW; Girelli, Domenico D; Hall, Alistair S AS; Hovingh, G Kees GK; Kastrati, Adnan A; Lieb, Wolfgang W; Meitinger, Thomas T; Kraus, William E WE; Shah, Svati H SH; McPherson, Ruth R; Orho-Melander, Marju M; Melander, Olle O; Metspalu, Andres A; Palmer, Colin N A CN; Peters, Annette A; Rader, Daniel J DJ; Reilly, Muredach P MP; Loos, Ruth J F RJ; Reiner, Alex P AP; Roden, Dan M DM; Tardif, Jean-Claude JC; Thompson, John R JR; Wareham, Nicholas J NJ; Watkins, Hugh H; Willer, Cristen J CJ; Samani, Nilesh J NJ; Schunkert, Heribert H; Deloukas, Panos P; Kathiresan, Sekar S; ,
Publication Date: 2017-02-21

Variant appearance in text: rs17293632
PubMed Link: 28209224
Variant Present in the following documents:
  • Main text
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Combinatorial bZIP dimers display complex DNA-binding specificity landscapes.

Elife
Rodríguez-Martínez, José A JA; Reinke, Aaron W AW; Bhimsaria, Devesh D; Keating, Amy E AE; Ansari, Aseem Z AZ
Publication Date: 2017-02-10

Variant appearance in text: rs17293632
PubMed Link: 28186491
Variant Present in the following documents:
  • Main text
  • elife-19272.pdf
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Angiotensin II Promotes the Development of Carotid Atherosclerosis in Type 2 Diabetes Patients via Regulating the T Cells Activities: A Cohort Study.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Wang, Kai K; Jin, Feng F; Zhang, Zhanpu Z; Sun, Xiaochuan X
Publication Date: 2016-10-26

Variant appearance in text: rs17293632
PubMed Link: 27782101
Variant Present in the following documents:
  • Main text
  • medscimonit-22-4000.pdf
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Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling.

The Journal Of Allergy And Clinical Immunology
Ferreira, Manuel A R MA; Jansen, Rick R; Willemsen, Gonneke G; Penninx, Brenda B; Bain, Lisa M LM; Vicente, Cristina T CT; Revez, Joana A JA; Matheson, Melanie C MC; Hui, Jennie J; Tung, Joyce Y JY; Baltic, Svetlana S; Le Souëf, Peter P; Montgomery, Grant W GW; Martin, Nicholas G NG; Robertson, Colin F CF; James, Alan A; Thompson, Philip J PJ; Boomsma, Dorret I DI; Hopper, John L JL; Hinds, David A DA; Werder, Rhiannon B RB; Phipps, Simon S; ,
Publication Date: 2017-04

Variant appearance in text: rs17293632
PubMed Link: 27554816
Variant Present in the following documents:
  • Main text
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Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.

Inflammatory Bowel Diseases
Guerrerio, Anthony L AL; Frischmeyer-Guerrerio, Pamela A PA; Huang, Chengrui C; Wu, Yuqiong Y; Haritunians, Talin T; McGovern, Dermot P B DPB; MacCarrick, Gretchen L GL; Brant, Steven R SR; Dietz, Harry C HC
Publication Date: 2016-09

Variant appearance in text: rs17293632
PubMed Link: 27508510
Variant Present in the following documents:
  • Main text
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Integrative functional genomics identifies regulatory mechanisms at coronary artery disease loci.

Nature Communications
Miller, Clint L CL; Pjanic, Milos M; Wang, Ting T; Nguyen, Trieu T; Cohain, Ariella A; Lee, Jonathan D JD; Perisic, Ljubica L; Hedin, Ulf U; Kundu, Ramendra K RK; Majmudar, Deshna D; Kim, Juyong B JB; Wang, Oliver O; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Assimes, Themistocles L TL; Montgomery, Stephen B SB; Schadt, Eric E EE; Björkegren, Johan L M JLM; Quertermous, Thomas T
Publication Date: 2016-07-08

Variant appearance in text: rs17293632
PubMed Link: 27386823
Variant Present in the following documents:
  • Main text
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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs17293632
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
  • NIHMS780506-supplement-6.pdf
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