ANTXR2 c.866+2948G>C

Variant ID: 4-80949829-C-G

NM_058172.5(ANTXR2):c.866+2948G>C

This variant was identified in 20 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: rs4333130
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Transcriptome-Wide Association Studies and Integration Analysis of mRNA Expression Profiles Identify Candidate Genes and Pathways Associated With Ankylosing Spondylitis.

Frontiers In Immunology
Feng, Ruoyang R; Lu, Mengnan M; Liu, Lin L; Xu, Ke K; Xu, Peng P
Publication Date: 2022

Variant appearance in text: rs4333130
PubMed Link: 35619696
Variant Present in the following documents:
  • Main text
  • fimmu-13-814303.pdf
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Protective effect of anthrax toxin receptor 2 polymorphism rs4333130 against the risk of ankylosing spondylitis.

Medicine
Xu, Haitao H; Qu, Yiming Y
Publication Date: 2020-07-10

Variant appearance in text: rs4333130
PubMed Link: 32664053
Variant Present in the following documents:
  • Main text
  • medi-99-e19942.pdf
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Ankylosing spondylitis: etiology, pathogenesis, and treatments.

Bone Research
Zhu, Wei W; He, Xuxia X; Cheng, Kaiyuan K; Zhang, Linjie L; Chen, Di D; Wang, Xiao X; Qiu, Guixing G; Cao, Xu X; Weng, Xisheng X
Publication Date: 2019

Variant appearance in text: rs4333130
PubMed Link: 31666997
Variant Present in the following documents:
  • Main text
  • 41413_2019_Article_57.pdf
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Case-Control Study and Meta-Analysis Show a Weak Association between ANTXR2 Polymorphisms and Ankylosing Spondylitis in Chinese Han.

Biomed Research International
Hu, Jiayue J; Du, Liping L; Su, Wencheng W; Liu, Shengyun S; Deng, Jing J; Cao, Qinfeng Q; Yuan, Gangxiang G; Kijlstra, Aize A; Yang, Peizeng P
Publication Date: 2018

Variant appearance in text: rs4333130
PubMed Link: 30255098
Variant Present in the following documents:
  • Main text
  • BMRI2018-8365173.pdf
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A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.

Nucleic Acids Research
Madelaine, Romain R; Notwell, James H JH; Skariah, Gemini G; Halluin, Caroline C; Chen, Charles C CC; Bejerano, Gill G; Mourrain, Philippe P
Publication Date: 2018-04-20

Variant appearance in text: rs4333130
PubMed Link: 29518216
Variant Present in the following documents:
  • Main text
  • gky166.pdf
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Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.

Npj Genomic Medicine
Robinson, Philip C PC; Leo, Paul J PJ; Pointon, Jennifer J JJ; Harris, Jessica J; Cremin, Katie K; Bradbury, Linda A LA; Stebbings, Simon S; Harrison, Andrew A AA; , ; , ; , ; , ; , ; , ; Duncan, Emma L EL; Evans, David M DM; Wordsworth, Paul B PB; Brown, Matthew A MA
Publication Date: 2016

Variant appearance in text: rs4333130
PubMed Link: 29263810
Variant Present in the following documents:
  • Main text
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Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa.

Molecular Psychiatry
Huckins, L M LM; Hatzikotoulas, K K; Southam, L L; Thornton, L M LM; Steinberg, J J; Aguilera-McKay, F F; Treasure, J J; Schmidt, U U; Gunasinghe, C C; Romero, A A; Curtis, C C; Rhodes, D D; Moens, J J; Kalsi, G G; Dempster, D D; Leung, R R; Keohane, A A; Burghardt, R R; Ehrlich, S S; Hebebrand, J J; Hinney, A A; Ludolph, A A; Walton, E E; Deloukas, P P; Hofman, A A; Palotie, A A; Palta, P P; van Rooij, F J A FJA; Stirrups, K K; Adan, R R; Boni, C C; Cone, R R; Dedoussis, G G; van Furth, E E; Gonidakis, F F; Gorwood, P P; Hudson, J J; Kaprio, J J; Kas, M M; Keski-Rahkonen, A A; Kiezebrink, K K; Knudsen, G-P GP; Slof-Op 't Landt, M C T MCT; Maj, M M; Monteleone, A M AM; Monteleone, P P; Raevuori, A H AH; Reichborn-Kjennerud, T T; Tozzi, F F; Tsitsika, A A; van Elburg, A A; , ; Collier, D A DA; Sullivan, P F PF; Breen, G G; Bulik, C M CM; Zeggini, E E
Publication Date: 2018-05

Variant appearance in text: rs4333130
PubMed Link: 29155802
Variant Present in the following documents:
  • Main text
  • mp201788a.pdf
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Genome-Wide Identification of Target Genes for the Key B Cell Transcription Factor Ets1.

Frontiers In Immunology
Saelee, Prontip P; Kearly, Alyssa A; Nutt, Stephen L SL; Garrett-Sinha, Lee Ann LA
Publication Date: 2017

Variant appearance in text: rs4333130
PubMed Link: 28439269
Variant Present in the following documents:
  • fimmu-08-00383.pdf
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Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province.

Chinese Medical Journal
Liu, Jian-Min JM; Cui, Ya-Zhou YZ; Zhang, Geng-Lin GL; Zhou, Xiao-Yan XY; Pang, Jing-Xiang JX; Wang, Xue-Zheng XZ; Han, Jin-Xiang JX
Publication Date: 2016-03-20

Variant appearance in text: rs4333130
PubMed Link: 26960368
Variant Present in the following documents:
  • CMJ-129-657.pdf
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Anthrax toxin receptor 2 gene (ANTXR2) rs4333130 is associated with ankylosing spondylitis.

International Journal Of Clinical And Experimental Medicine
Ou, Yanjuan Y
Publication Date: 2015

Variant appearance in text: rs4333130
PubMed Link: 26221317
Variant Present in the following documents:
  • Main text
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A meta-analysis of gene expression signatures of blood pressure and hypertension.

Plos Genetics
Huan, Tianxiao T; Esko, Tõnu T; Peters, Marjolein J MJ; Pilling, Luke C LC; Schramm, Katharina K; Schurmann, Claudia C; Chen, Brian H BH; Liu, Chunyu C; Joehanes, Roby R; Johnson, Andrew D AD; Yao, Chen C; Ying, Sai-Xia SX; Courchesne, Paul P; Milani, Lili L; Raghavachari, Nalini N; Wang, Richard R; Liu, Poching P; Reinmaa, Eva E; Dehghan, Abbas A; Hofman, Albert A; Uitterlinden, André G AG; Hernandez, Dena G DG; Bandinelli, Stefania S; Singleton, Andrew A; Melzer, David D; Metspalu, Andres A; Carstensen, Maren M; Grallert, Harald H; Herder, Christian C; Meitinger, Thomas T; Peters, Annette A; Roden, Michael M; Waldenberger, Melanie M; Dörr, Marcus M; Felix, Stephan B SB; Zeller, Tanja T; , ; Vasan, Ramachandran R; O'Donnell, Christopher J CJ; Munson, Peter J PJ; Yang, Xia X; Prokisch, Holger H; Völker, Uwe U; van Meurs, Joyce B J JB; Ferrucci, Luigi L; Levy, Daniel D
Publication Date: 2015-03

Variant appearance in text: rs4333130
PubMed Link: 25785607
Variant Present in the following documents:
  • Main text
  • pgen.1005035.pdf
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Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis.

Arthritis & Rheumatology (Hoboken, N.J.)
Robinson, Philip C PC; Claushuis, Theodora A M TA; Cortes, Adrian A; Martin, Tammy M TM; Evans, David M DM; Leo, Paul P; Mukhopadhyay, Pamela P; Bradbury, Linda A LA; Cremin, Katie K; Harris, Jessica J; Maksymowych, Walter P WP; Inman, Robert D RD; Rahman, Proton P; Haroon, Nigil N; Gensler, Lianne L; Powell, Joseph E JE; van der Horst-Bruinsma, Irene E IE; Hewitt, Alex W AW; Craig, Jamie E JE; Lim, Lyndell L LL; Wakefield, Denis D; McCluskey, Peter P; Voigt, Valentina V; Fleming, Peter P; , ; Degli-Esposti, Mariapia M; Pointon, Jennifer J JJ; Weisman, Michael H MH; Wordsworth, B Paul BP; Reveille, John D JD; Rosenbaum, James T JT; Brown, Matthew A MA
Publication Date: 2015-01

Variant appearance in text: rs4333130
PubMed Link: 25200001
Variant Present in the following documents:
  • Main text
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rs10865331 associated with susceptibility and disease severity of ankylosing spondylitis in a Taiwanese population.

Plos One
Wen, Ya-Feng YF; Wei, James Cheng-Chung JC; Hsu, Yu-Wen YW; Chiou, Hung-Yi HY; Wong, Henry Sung-Ching HS; Wong, Ruey-Hong RH; Ikegawa, Shiro S; Chang, Wei-Chiao WC
Publication Date: 2014

Variant appearance in text: rs4333130
PubMed Link: 25184745
Variant Present in the following documents:
  • Main text
  • pone.0104525.pdf
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Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene (ANTXR2).

Annals Of The Rheumatic Diseases
Karaderi, T T; Keidel, S M SM; Pointon, J J JJ; Appleton, L H LH; Brown, M A MA; Evans, D M DM; Wordsworth, B P BP
Publication Date: 2014-11

Variant appearance in text: rs4333130
PubMed Link: 25169729
Variant Present in the following documents:
  • Main text
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Common risk alleles for inflammatory diseases are targets of recent positive selection.

American Journal Of Human Genetics
Raj, Towfique T; Kuchroo, Manik M; Replogle, Joseph M JM; Raychaudhuri, Soumya S; Stranger, Barbara E BE; De Jager, Philip L PL
Publication Date: 2013-04-04

Variant appearance in text: rs4333130
PubMed Link: 23522783
Variant Present in the following documents:
  • Main text
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Association study of polymorphisms rs4552569 and rs17095830 and the risk of ankylosing spondylitis in a Taiwanese population.

Plos One
Wei, James Cheng-Chung JC; Hsu, Yu-Wen YW; Hung, Kuo-Sheng KS; Wong, Ruey-Hong RH; Huang, Chun-Huang CH; Liu, Yi-Tzu YT; Guo, Yuh-Cherng YC; Ikegawa, Shiro S; Chang, Wei-Chiao WC
Publication Date: 2013

Variant appearance in text: rs4333130
PubMed Link: 23308121
Variant Present in the following documents:
  • Main text
  • pone.0052801.pdf
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Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.

Arthritis And Rheumatism
Thompson, Susan D SD; Marion, Miranda C MC; Sudman, Marc M; Ryan, Mary M; Tsoras, Monica M; Howard, Timothy D TD; Barnes, Michael G MG; Ramos, Paula S PS; Thomson, Wendy W; Hinks, Anne A; Haas, Johannes-Peter JP; Prahalad, Sampath S; Bohnsack, John F JF; Wise, Carol A CA; Punaro, Marilynn M; Rosé, Carlos D CD; Pajewski, Nicholas M NM; Spigarelli, Michael M; Keddache, Mehdi M; Wagner, Michael M; Langefeld, Carl D CD; Glass, David N DN
Publication Date: 2012-08

Variant appearance in text: rs4333130
PubMed Link: 22354554
Variant Present in the following documents:
  • Main text
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Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

Nature Genetics
Hüffmeier, Ulrike U; Uebe, Steffen S; Ekici, Arif B AB; Bowes, John J; Giardina, Emiliano E; Korendowych, Eleanor E; Juneblad, Kristina K; Apel, Maria M; McManus, Ross R; Ho, Pauline P; Bruce, Ian N IN; Ryan, Anthony W AW; Behrens, Frank F; Lascorz, Jesús J; Böhm, Beate B; Traupe, Heiko H; Lohmann, Jörg J; Gieger, Christian C; Wichmann, Heinz-Erich HE; Herold, Christine C; Steffens, Michael M; Klareskog, Lars L; Wienker, Thomas F TF; Fitzgerald, Oliver O; Alenius, Gerd-Marie GM; McHugh, Neil J NJ; Novelli, Giuseppe G; Burkhardt, Harald H; Barton, Anne A; Reis, André A
Publication Date: 2010-11

Variant appearance in text: rs4333130
PubMed Link: 20953186
Variant Present in the following documents:
  • NIHMS32132-supplement-1.pdf
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Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

Nature Genetics
, ; Reveille, John D JD; Sims, Anne-Marie AM; Danoy, Patrick P; Evans, David M DM; Leo, Paul P; Pointon, Jennifer J JJ; Jin, Rui R; Zhou, Xiaodong X; Bradbury, Linda A LA; Appleton, Louise H LH; Davis, John C JC; Diekman, Laura L; Doan, Tracey T; Dowling, Alison A; Duan, Ran R; Duncan, Emma L EL; Farrar, Claire C; Hadler, Johanna J; Harvey, David D; Karaderi, Tugce T; Mogg, Rebecca R; Pomeroy, Emma E; Pryce, Karena K; Taylor, Jacqueline J; Savage, Laurie L; Deloukas, Panos P; Kumanduri, Vasudev V; Peltonen, Leena L; Ring, Sue M SM; Whittaker, Pamela P; Glazov, Evgeny E; Thomas, Gethin P GP; Maksymowych, Walter P WP; Inman, Robert D RD; Ward, Michael M MM; Stone, Millicent A MA; Weisman, Michael H MH; Wordsworth, B Paul BP; Brown, Matthew A MA
Publication Date: 2010-02

Variant appearance in text: rs4333130
PubMed Link: 20062062
Variant Present in the following documents:
  • Main text
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