IRF1 c.853+133G>T

Variant ID: 5-131819921-C-A

NM_002198.2(IRF1):c.853+133G>T

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2070729
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association analysis of anti-TNF-α treatment response in Chinese patients with psoriasis.

Frontiers In Pharmacology
Ren, Yunqing Y; Wang, Ling L; Dai, Huatuo H; Qiu, Guiying G; Liu, Jipeng J; Yu, Dianhe D; Liu, Jianjun J; Lyu, Cheng-Zhi CZ; Liu, Lunfei L; Zheng, Min M
Publication Date: 2022

Variant appearance in text: rs2070729
PubMed Link: 36059983
Variant Present in the following documents:
  • Main text
  • fphar-13-968935.pdf
View BVdb publication page



Genetic Associations and Differential mRNA Expression Levels of Host Genes Suggest a Viral Trigger for Endemic Pemphigus Foliaceus.

Viruses
Hoch, Valéria Bumiller-Bini VB; Kohler, Ana Flávia AF; Augusto, Danillo G DG; Lobo-Alves, Sara Cristina SC; Malheiros, Danielle D; Cipolla, Gabriel Adelman GA; Boldt, Angelica Beate Winter ABW; Braun-Prado, Karin K; Wittig, Michael M; Franke, Andre A; Pföhler, Claudia C; Worm, Margitta M; van Beek, Nina N; Goebeler, Matthias M; Sárdy, Miklós M; Ibrahim, Saleh S; Busch, Hauke H; Schmidt, Enno E; Hundt, Jennifer Elisabeth JE; Araujo-Souza, Patrícia Savio de PS; Petzl-Erler, Maria Luiza ML
Publication Date: 2022-04-23

Variant appearance in text: rs2070729
PubMed Link: 35632621
Variant Present in the following documents:
  • Main text
  • viruses-14-00879.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: rs2070729
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Novel association between TGFA, TGFB1, IRF1, PTGS2 and IKBKB single-nucleotide polymorphisms and occurrence, severity and treatment response of major depressive disorder.

Peerj
Bialek, Katarzyna K; Czarny, Piotr P; Watala, Cezary C; Wigner, Paulina P; Talarowska, Monika M; Galecki, Piotr P; Szemraj, Janusz J; Sliwinski, Tomasz T
Publication Date: 2020

Variant appearance in text: rs2070729
PubMed Link: 32140313
Variant Present in the following documents:
  • Main text
  • peerj-08-8676.pdf
View BVdb publication page



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: IRF1: 853+133G>T; rs2070729
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2070729
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genome-wide interaction studies reveal sex-specific asthma risk alleles.

Human Molecular Genetics
Myers, Rachel A RA; Scott, Nicole M NM; Gauderman, W James WJ; Qiu, Weiliang W; Mathias, Rasika A RA; Romieu, Isabelle I; Levin, Albert M AM; Pino-Yanes, Maria M; Graves, Penelope E PE; Villarreal, Albino Barraza AB; Beaty, Terri H TH; Carey, Vincent J VJ; Croteau-Chonka, Damien C DC; del Rio Navarro, Blanca B; Edlund, Christopher C; Hernandez-Cadena, Leticia L; Navarro-Olivos, Efrain E; Padhukasahasram, Badri B; Salam, Muhammad T MT; Torgerson, Dara G DG; Van den Berg, David J DJ; Vora, Hita H; Bleecker, Eugene R ER; Meyers, Deborah A DA; Williams, L Keoki LK; Martinez, Fernando D FD; Burchard, Esteban G EG; Barnes, Kathleen C KC; Gilliland, Frank D FD; Weiss, Scott T ST; London, Stephanie J SJ; Raby, Benjamin A BA; Ober, Carole C; Nicolae, Dan L DL; ,
Publication Date: 2014-10-01

Variant appearance in text: rs2070729
PubMed Link: 24824216
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2014-06

Variant appearance in text: rs2070729
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
View BVdb publication page



Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.

Plos Pathogens
McLaren, Paul J PJ; Coulonges, Cédric C; Ripke, Stephan S; van den Berg, Leonard L; Buchbinder, Susan S; Carrington, Mary M; Cossarizza, Andrea A; Dalmau, Judith J; Deeks, Steven G SG; Delaneau, Olivier O; De Luca, Andrea A; Goedert, James J JJ; Haas, David D; Herbeck, Joshua T JT; Kathiresan, Sekar S; Kirk, Gregory D GD; Lambotte, Olivier O; Luo, Ma M; Mallal, Simon S; van Manen, Daniëlle D; Martinez-Picado, Javier J; Meyer, Laurence L; Miro, José M JM; Mullins, James I JI; Obel, Niels N; O'Brien, Stephen J SJ; Pereyra, Florencia F; Plummer, Francis A FA; Poli, Guido G; Qi, Ying Y; Rucart, Pierre P; Sandhu, Manj S MS; Shea, Patrick R PR; Schuitemaker, Hanneke H; Theodorou, Ioannis I; Vannberg, Fredrik F; Veldink, Jan J; Walker, Bruce D BD; Weintrob, Amy A; Winkler, Cheryl A CA; Wolinsky, Steven S; Telenti, Amalio A; Goldstein, David B DB; de Bakker, Paul I W PI; Zagury, Jean-François JF; Fellay, Jacques J
Publication Date: 2013

Variant appearance in text: rs2070729
PubMed Link: 23935489
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tagging single nucleotide polymorphisms in the IRF1 and IRF8 genes and tuberculosis susceptibility.

Plos One
Ding, Shiping S; Jiang, Tao T; He, Jianqin J; Qin, Beibei B; Lin, Shuangyan S; Li, Lanjuan L
Publication Date: 2012

Variant appearance in text: rs2070729
PubMed Link: 22879909
Variant Present in the following documents:
  • Main text
  • pone.0042104.pdf
View BVdb publication page



Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.

Plos One
Lingappa, Jairam R JR; Petrovski, Slavé S; Kahle, Erin E; Fellay, Jacques J; Shianna, Kevin K; McElrath, M Juliana MJ; Thomas, Katherine K KK; Baeten, Jared M JM; Celum, Connie C; Wald, Anna A; de Bruyn, Guy G; Mullins, James I JI; Nakku-Joloba, Edith E; Farquhar, Carey C; Essex, Max M; Donnell, Deborah D; Kiarie, James J; Haynes, Bart B; Goldstein, David D; ,
Publication Date: 2011

Variant appearance in text: rs2070729
PubMed Link: 22174851
Variant Present in the following documents:
  • Main text
  • pone.0028632.pdf
View BVdb publication page



Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.

Circulation. Cardiovascular Genetics
Dehghan, Abbas A; Yang, Qiong Q; Peters, Annette A; Basu, Saonli S; Bis, Joshua C JC; Rudnicka, Alicja R AR; Kavousi, Maryam M; Chen, Ming-Huei MH; Baumert, Jens J; Lowe, Gordon D O GD; McKnight, Barbara B; Tang, Weihong W; de Maat, Moniek M; Larson, Martin G MG; Eyhermendy, Susana S; McArdle, Wendy L WL; Lumley, Thomas T; Pankow, James S JS; Hofman, Albert A; Massaro, Joseph M JM; Rivadeneira, Fernando F; Kolz, Melanie M; Taylor, Kent D KD; van Duijn, Cornelia M CM; Kathiresan, Sekar S; Illig, Thomas T; Aulchenko, Yurii S YS; Volcik, Kelly A KA; Johnson, Andrew D AD; Uitterlinden, Andre G AG; Tofler, Geoffrey H GH; Gieger, Christian C; , ; Psaty, Bruce M BM; Couper, David J DJ; Boerwinkle, Eric E; Koenig, Wolfgang W; O'Donnell, Christopher J CJ; Witteman, Jacqueline C JC; Strachan, David P DP; Smith, Nicholas L NL; Folsom, Aaron R AR
Publication Date: 2009-04

Variant appearance in text: rs2070729
PubMed Link: 20031576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of interferon regulatory factor 1 with severe malaria in affected child-parental trio studies across three African populations.

Plos One
Mangano, Valentina D VD; Clark, Taane G TG; Auburn, Sarah S; Campino, Susana S; Diakite, Mahamadou M; Fry, Andrew E AE; Green, Angela A; Richardson, Anna A; Jallow, Muminatou M; Sisay-Joof, Fatou F; Pinder, Margaret M; Griffiths, Michael J MJ; Newton, Charles C; Peshu, Norbert N; Williams, Thomas N TN; Marsh, Kevin K; Molyneux, Malcolm E ME; Taylor, Terrie E TE; Modiano, David D; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA
Publication Date: 2009

Variant appearance in text: rs2070729
PubMed Link: 19145247
Variant Present in the following documents:
  • Main text
  • pone.0004206.pdf
View BVdb publication page



Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection.

Genes And Immunity
Mangano, V D VD; Luoni, G G; Rockett, K A KA; Sirima, B S BS; Konaté, A A; Forton, J J; Clark, T G TG; Bancone, G G; Sadighi Akha, E E; Akha, E S ES; Kwiatkowski, D P DP; Modiano, D D
Publication Date: 2008-03

Variant appearance in text: rs2070729
PubMed Link: 18200030
Variant Present in the following documents:
  • Main text
View BVdb publication page