TNPO3 c.2062-1477T>G

Variant ID: 7-128617466-A-C

NM_012470.3(TNPO3):c.2062-1477T>G

This variant was identified in 24 publications

View GRCh38 version.




Publications:


How genetic risk contributes to autoimmune liver disease.

Seminars In Immunopathology
Ellinghaus, David D
Publication Date: 2022-07

Variant appearance in text: rs12531711
PubMed Link: 35650446
Variant Present in the following documents:
  • Main text
  • 281_2022_Article_950.pdf
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Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.

Arthritis Research & Therapy
Tangtanatakul, Pattarin P; Thumarat, Chisanu C; Satproedprai, Nusara N; Kunhapan, Punna P; Chaiyasung, Tassamonwan T; Klinchanhom, Siriwan S; Wang, Yong-Fei YF; Wei, Wei W; Wongshinsri, Jeerapat J; Chiewchengchol, Direkrit D; Rodsaward, Pongsawat P; Ngamjanyaporn, Pintip P; Suangtamai, Thanitta T; Mahasirimongkol, Surakameth S; Pisitkun, Prapaporn P; Hirankarn, Nattiya N
Publication Date: 2020-08-08

Variant appearance in text: rs12531711
PubMed Link: 32771030
Variant Present in the following documents:
  • Main text
  • 13075_2020_Article_2276.pdf
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Understanding the genetics of systemic lupus erythematosus using Bayesian statistics and gene network analysis.

Clinical And Experimental Pediatrics
Nam, Seoung Wan SW; Lee, Kwang Seob KS; Yang, Jae Won JW; Ko, Younhee Y; Eisenhut, Michael M; Lee, Keum Hwa KH; Shin, Jae Il JI; Kronbichler, Andreas A
Publication Date: 2021-05

Variant appearance in text: rs12531711
PubMed Link: 32683804
Variant Present in the following documents:
  • Main text
  • cep-2020-00633.pdf
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Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes.

Genes
Dolgova, Olga O; Lao, Oscar O
Publication Date: 2018-07-18

Variant appearance in text: rs12531711
PubMed Link: 30022013
Variant Present in the following documents:
  • genes-09-00358-s001.xlsx, sheet 1
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Functional implications of Neandertal introgression in modern humans.

Genome Biology
Dannemann, Michael M; Prüfer, Kay K; Kelso, Janet J
Publication Date: 2017-04-03

Variant appearance in text: rs12531711
PubMed Link: 28366169
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1181.pdf
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Several Critical Cell Types, Tissues, and Pathways Are Implicated in Genome-Wide Association Studies for Systemic Lupus Erythematosus.

G3 (Bethesda, Md.)
Liu, Lu L; Yin, Xianyong X; Wen, Leilei L; Yang, Chao C; Sheng, Yujun Y; Lin, Yan Y; Zhu, Zhengwei Z; Shen, Changbing C; Shi, Yinjuan Y; Zheng, Yajie Y; Yang, Sen S; Zhang, Xuejun X; Cui, Yong Y
Publication Date: 2016-06-01

Variant appearance in text: rs12531711
PubMed Link: 27172182
Variant Present in the following documents:
  • supp_g3.116.027326_TableS1.pdf
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Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.

Elife
Raj, Prithvi P; Rai, Ekta E; Song, Ran R; Khan, Shaheen S; Wakeland, Benjamin E BE; Viswanathan, Kasthuribai K; Arana, Carlos C; Liang, Chaoying C; Zhang, Bo B; Dozmorov, Igor I; Carr-Johnson, Ferdicia F; Mitrovic, Mitja M; Wiley, Graham B GB; Kelly, Jennifer A JA; Lauwerys, Bernard R BR; Olsen, Nancy J NJ; Cotsapas, Chris C; Garcia, Christine K CK; Wise, Carol A CA; Harley, John B JB; Nath, Swapan K SK; James, Judith A JA; Jacob, Chaim O CO; Tsao, Betty P BP; Pasare, Chandrashekhar C; Karp, David R DR; Li, Quan Zhen QZ; Gaffney, Patrick M PM; Wakeland, Edward K EK
Publication Date: 2016-02-15

Variant appearance in text: rs12531711
PubMed Link: 26880555
Variant Present in the following documents:
  • Main text
  • elife-12089.pdf
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Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.

Arthritis Research & Therapy
Arismendi, Maria M; Giraud, Matthieu M; Ruzehaji, Nadira N; Dieudé, Philippe P; Koumakis, Eugenie E; Ruiz, Barbara B; Airo, Paolo P; Cusi, Daniele D; Matucci-Cerinic, Marco M; Salvi, Erika E; Cuomo, Giovanna G; Hachulla, Eric E; Diot, Elisabeth E; Caramaschi, Paola P; Riccieri, Valeria V; Avouac, Jérôme J; Kayser, Cristiane C; Allanore, Yannick Y
Publication Date: 2015-03-21

Variant appearance in text: rs12531711
PubMed Link: 25880423
Variant Present in the following documents:
  • Main text
  • 13075_2015_Article_572.pdf
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An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.

Arthritis Research & Therapy
Zochling, Jane J; Newell, Felicity F; Charlesworth, Jac C JC; Leo, Paul P; Stankovich, Jim J; Cortes, Adrian A; Zhou, Yuan Y; Stevens, Wendy W; Sahhar, Joanne J; Roddy, Janet J; Nash, Peter P; Tymms, Kathleen K; Rischmueller, Maureen M; Lester, Sue S; Proudman, Susanna S; Brown, Matthew A MA
Publication Date: 2014-10-21

Variant appearance in text: rs12531711
PubMed Link: 25332064
Variant Present in the following documents:
  • Main text
  • 13075_2014_Article_438.pdf
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Widespread signals of convergent adaptation to high altitude in Asia and america.

American Journal Of Human Genetics
Foll, Matthieu M; Gaggiotti, Oscar E OE; Daub, Josephine T JT; Vatsiou, Alexandra A; Excoffier, Laurent L
Publication Date: 2014-10-02

Variant appearance in text: rs12531711
PubMed Link: 25262650
Variant Present in the following documents:
  • Main text
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The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

Human Molecular Genetics
Kottyan, Leah C LC; Zoller, Erin E EE; Bene, Jessica J; Lu, Xiaoming X; Kelly, Jennifer A JA; Rupert, Andrew M AM; Lessard, Christopher J CJ; Vaughn, Samuel E SE; Marion, Miranda M; Weirauch, Matthew T MT; Namjou, Bahram B; Adler, Adam A; Rasmussen, Astrid A; Glenn, Stuart S; Montgomery, Courtney G CG; Hirschfield, Gideon M GM; Xie, Gang G; Coltescu, Catalina C; Amos, Chris C; Li, He H; Ice, John A JA; Nath, Swapan K SK; Mariette, Xavier X; Bowman, Simon S; , ; Rischmueller, Maureen M; Lester, Sue S; Brun, Johan G JG; Gøransson, Lasse G LG; Harboe, Erna E; Omdal, Roald R; Cunninghame-Graham, Deborah S DS; Vyse, Tim T; Miceli-Richard, Corinne C; Brennan, Michael T MT; Lessard, James A JA; Wahren-Herlenius, Marie M; Kvarnström, Marika M; Illei, Gabor G GG; Witte, Torsten T; Jonsson, Roland R; Eriksson, Per P; Nordmark, Gunnel G; Ng, Wan-Fai WF; , ; Anaya, Juan-Manuel JM; Rhodus, Nelson L NL; Segal, Barbara M BM; Merrill, Joan T JT; James, Judith A JA; Guthridge, Joel M JM; Scofield, R Hal RH; Alarcon-Riquelme, Marta M; Bae, Sang-Cheol SC; Boackle, Susan A SA; Criswell, Lindsey A LA; Gilkeson, Gary G; Kamen, Diane L DL; Jacob, Chaim O CO; Kimberly, Robert R; Brown, Elizabeth E; Edberg, Jeffrey J; Alarcón, Graciela S GS; Reveille, John D JD; Vilá, Luis M LM; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Freedman, Barry I BI; Niewold, Timothy T; Stevens, Anne M AM; Tsao, Betty P BP; Ying, Jun J; Mayes, Maureen D MD; Gorlova, Olga Y OY; Wakeland, Ward W; Radstake, Timothy T; Martin, Ezequiel E; Martin, Javier J; Siminovitch, Katherine K; Moser Sivils, Kathy L KL; Gaffney, Patrick M PM; Langefeld, Carl D CD; Harley, John B JB; Kaufman, Kenneth M KM
Publication Date: 2015-01-15

Variant appearance in text: rs12531711
PubMed Link: 25205108
Variant Present in the following documents:
  • Main text
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Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants.

American Journal Of Human Genetics
Li, Xin X; Battle, Alexis A; Karczewski, Konrad J KJ; Zappala, Zach Z; Knowles, David A DA; Smith, Kevin S KS; Kukurba, Kim R KR; Wu, Eric E; Simon, Noah N; Montgomery, Stephen B SB
Publication Date: 2014-09-04

Variant appearance in text: rs12531711
PubMed Link: 25192044
Variant Present in the following documents:
  • mmc2.pdf
  • mmc1.pdf
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GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity
Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO
Publication Date: 2014-09

Variant appearance in text: rs12531711
PubMed Link: 24871463
Variant Present in the following documents:
  • Main text
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The genomic landscape of Neanderthal ancestry in present-day humans.

Nature
Sankararaman, Sriram S; Mallick, Swapan S; Dannemann, Michael M; Prüfer, Kay K; Kelso, Janet J; Pääbo, Svante S; Patterson, Nick N; Reich, David D
Publication Date: 2014-03-20

Variant appearance in text: rs12531711
PubMed Link: 24476815
Variant Present in the following documents:
  • Main text
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Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

Arthritis & Rheumatology (Hoboken, N.J.)
Orozco, Gisela G; Viatte, Sebastien S; Bowes, John J; Martin, Paul P; Wilson, Anthony G AG; Morgan, Ann W AW; Steer, Sophia S; Wordsworth, Paul P; Hocking, Lynne J LJ; , ; , ; , ; Barton, Anne A; Worthington, Jane J; Eyre, Stephen S
Publication Date: 2014-01

Variant appearance in text: rs12531711
PubMed Link: 24449572
Variant Present in the following documents:
  • Main text
  • art0066-0024.pdf
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Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in europeans.

Plos One
Cobb, Joanna E JE; Plant, Darren D; Flynn, Edward E; Tadjeddine, Meriem M; Dieudé, Philippe P; Cornélis, François F; Ärlestig, Lisbeth L; Dahlqvist, Solbritt Rantapää SR; Goulielmos, George G; Boumpas, Dimitrios T DT; Sidiropoulos, Prodromos P; Krintel, Sophine B SB; Ørnbjerg, Lykke M LM; Hetland, Merete L ML; Klareskog, Lars L; Haeupl, Thomas T; Filer, Andrew A; Buckley, Christopher D CD; Raza, Karim K; Witte, Torsten T; Schmidt, Reinhold E RE; FitzGerald, Oliver O; Veale, Douglas D; Eyre, Stephen S; Worthington, Jane J
Publication Date: 2013

Variant appearance in text: rs12531711
PubMed Link: 23840476
Variant Present in the following documents:
  • Main text
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Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs12531711
PubMed Link: 22825589
Variant Present in the following documents:
View BVdb publication page



Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients.

Annals Of The Rheumatic Diseases
Viatte, Sebastien S; Plant, Darren D; Bowes, John J; Lunt, Mark M; Eyre, Stephen S; Barton, Anne A; Worthington, Jane J
Publication Date: 2012-12

Variant appearance in text: rs12531711
PubMed Link: 22661644
Variant Present in the following documents:
  • Main text
  • annrheumdis-2011-201225.pdf
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Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

Human Molecular Genetics
Martin, Jose-Ezequiel JE; Broen, Jasper C JC; Carmona, F David FD; Teruel, Maria M; Simeon, Carmen P CP; Vonk, Madelon C MC; van 't Slot, Ruben R; Rodriguez-Rodriguez, Luis L; Vicente, Esther E; Fonollosa, Vicente V; Ortego-Centeno, Norberto N; González-Gay, Miguel A MA; García-Hernández, Francisco J FJ; de la Peña, Paloma García PG; Carreira, Patricia P; , ; Voskuyl, Alexandre E AE; Schuerwegh, Annemie J AJ; van Riel, Piet L C M PL; Kreuter, Alexander A; Witte, Torsten T; Riemekasten, Gabriella G; Airo, Paolo P; Scorza, Raffaella R; Lunardi, Claudio C; Hunzelmann, Nicolas N; Distler, Jörg H W JH; Beretta, Lorenzo L; van Laar, Jacob J; Chee, Meng May MM; Worthington, Jane J; Herrick, Ariane A; Denton, Christopher C; Tan, Filemon K FK; Arnett, Frank C FC; Assassi, Shervin S; Fonseca, Carmen C; Mayes, Maureen D MD; Radstake, Timothy R D J TR; Koeleman, Bobby P C BP; Martin, Javier J
Publication Date: 2012-06-15

Variant appearance in text: rs12531711
PubMed Link: 22407130
Variant Present in the following documents:
  • Main text
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Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

Plos Genetics
Chung, Sharon A SA; Taylor, Kimberly E KE; Graham, Robert R RR; Nititham, Joanne J; Lee, Annette T AT; Ortmann, Ward A WA; Jacob, Chaim O CO; Alarcón-Riquelme, Marta E ME; Tsao, Betty P BP; Harley, John B JB; Gaffney, Patrick M PM; Moser, Kathy L KL; , ; Petri, Michelle M; Demirci, F Yesim FY; Kamboh, M Ilyas MI; Manzi, Susan S; Gregersen, Peter K PK; Langefeld, Carl D CD; Behrens, Timothy W TW; Criswell, Lindsey A LA
Publication Date: 2011-03

Variant appearance in text: rs12531711
PubMed Link: 21408207
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA
Publication Date: 2011-03-13

Variant appearance in text: rs12531711
PubMed Link: 21399635
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: rs12531711
PubMed Link: 20953186
Variant Present in the following documents:
  • NIHMS32132-supplement-1.pdf
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Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Liu, Yanhong Y; Shete, Sanjay S; Etzel, Carol J CJ; Scheurer, Michael M; Alexiou, George G; Armstrong, Georgina G; Tsavachidis, Spyros S; Liang, Fu-Wen FW; Gilbert, Mark M; Aldape, Ken K; Armstrong, Terri T; Houlston, Richard R; Hosking, Fay F; Robertson, Lindsay L; Xiao, Yuanyuan Y; Wiencke, John J; Wrensch, Margaret M; Andersson, Ulrika U; Melin, Beatrice S BS; Bondy, Melissa M
Publication Date: 2010-05-10

Variant appearance in text: rs12531711
PubMed Link: 20368557
Variant Present in the following documents:
  • Main text
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