Publications:

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Updates on genetics in systemic sclerosis.

Inflammation And Regeneration

Ota, Yuko Y; Kuwana, Masataka M

Publication Date: 2021-06-15

Variant appearance in text: rs2233287

PubMed Link: 34130729

Variant Present in the following documents:

• Main text
• 41232_2021_Article_167.pdf

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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: rs2233287

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Role of Systemic Lupus Erythematosus Risk Variants With Opposing Functional Effects as a Driver of Hypomorphic Expression of TNIP1 and Other Genes Within a Three-Dimensional Chromatin Network.

Arthritis & Rheumatology (Hoboken, N.J.)

Pasula, Satish S; Tessneer, Kandice L KL; Fu, Yao Y; Gopalakrishnan, Jaanam J; Pelikan, Richard C RC; Kelly, Jennifer A JA; Wiley, Graham B GB; Wiley, Mandi M MM; Gaffney, Patrick M PM

Publication Date: 2020-05

Variant appearance in text: rs2233287

PubMed Link: 31804013

Variant Present in the following documents:

• Main text

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TNFAIP3 genetic polymorphisms reduce ankylosing spondylitis risk in Eastern Chinese Han population.

Scientific Reports

Yang, Jiajia J; Hu, Xingxing X; Wu, Meng M; Ma, Yubo Y; Zhang, Xu X; Chen, Mengya M; Yuan, Yaping Y; Han, Renfang R; Liu, Rui R; Guan, Shiyang S; Deng, Jixiang J; Xu, Shanshan S; Gao, Xing X; Xu, Shengqian S; Shuai, Zongwen Z; Jiang, Shanqun S; Guan, Shihe S; Chen, Liwen L; Pan, Faming F

Publication Date: 2019-07-15

Variant appearance in text: rs2233287

PubMed Link: 31308453

Variant Present in the following documents:

• Main text
• 41598_2019_Article_46647.pdf

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Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity.

Nature Genetics

Harley, John B JB; Chen, Xiaoting X; Pujato, Mario M; Miller, Daniel D; Maddox, Avery A; Forney, Carmy C; Magnusen, Albert F AF; Lynch, Arthur A; Chetal, Kashish K; Yukawa, Masashi M; Barski, Artem A; Salomonis, Nathan N; Kaufman, Kenneth M KM; Kottyan, Leah C LC; Weirauch, Matthew T MT

Publication Date: 2018-05

Variant appearance in text: rs2233287

PubMed Link: 29662164

Variant Present in the following documents:

• Main text

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Unfolding the pathogenesis of scleroderma through genomics and epigenomics.

Journal Of Autoimmunity

Tsou, Pei-Suen PS; Sawalha, Amr H AH

Publication Date: 2017-09

Variant appearance in text: rs2233287

PubMed Link: 28526340

Variant Present in the following documents:

• Main text

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Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.

Annals Of The Rheumatic Diseases

Terao, Chikashi C; Kawaguchi, Takahisa T; Dieude, Philippe P; Varga, John J; Kuwana, Masataka M; Hudson, Marie M; Kawaguchi, Yasushi Y; Matucci-Cerinic, Marco M; Ohmura, Koichiro K; Riemekasten, Gabriela G; Kawasaki, Aya A; Airo, Paolo P; Horita, Tetsuya T; Oka, Akira A; Hachulla, Eric E; Yoshifuji, Hajime H; Caramaschi, Paola P; Hunzelmann, Nicolas N; Baron, Murray M; Atsumi, Tatsuya T; Hassoun, Paul P; Torii, Takeshi T; Takahashi, Meiko M; Tabara, Yasuharu Y; Shimizu, Masakazu M; Tochimoto, Akiko A; Ayuzawa, Naho N; Yanagida, Hidetoshi H; Furukawa, Hiroshi H; Tohma, Shigeto S; Hasegawa, Minoru M; Fujimoto, Manabu M; Ishikawa, Osamu O; Yamamoto, Toshiyuki T; Goto, Daisuke D; Asano, Yoshihide Y; Jinnin, Masatoshi M; Endo, Hirahito H; Takahashi, Hiroki H; Takehara, Kazuhiko K; Sato, Shinichi S; Ihn, Hironobu H; Raychaudhuri, Soumya S; Liao, Katherine K; Gregersen, Peter P; Tsuchiya, Naoyuki N; Riccieri, Valeria V; Melchers, Inga I; Valentini, Gabriele G; Cauvet, Anne A; Martinez, Maria M; Mimori, Tsuneyo T; Matsuda, Fumihiko F; Allanore, Yannick Y

Publication Date: 2017-06

Variant appearance in text: rs2233287

PubMed Link: 28314753

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: rs2233287

PubMed Link: 28186491

Variant Present in the following documents:

• elife-19272.pdf

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Genetic risk factors for sclerotic graft-versus-host disease.

Blood

Inamoto, Yoshihiro Y; Martin, Paul J PJ; Flowers, Mary E D ME; Lee, Stephanie J SJ; Carpenter, Paul A PA; Warren, Edus H EH; Geraghty, Daniel E DE; Lee, Ni N; Boeckh, Michael J MJ; Storer, Barry E BE; Levine, David M DM; Fan, Wenhong W; Zhao, Lue-Ping LP; Hansen, John A JA

Publication Date: 2016-09-15

Variant appearance in text: rs2233287

PubMed Link: 27313329

Variant Present in the following documents:

• Main text

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Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Rheumatic Diseases Clinics Of North America

Salazar, Gloria G; Mayes, Maureen D MD

Publication Date: 2015-08

Variant appearance in text: rs2233287

PubMed Link: 26210123

Variant Present in the following documents:

• Main text

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Pathogenesis of Systemic Sclerosis.

Frontiers In Immunology

Pattanaik, Debendra D; Brown, Monica M; Postlethwaite, Bradley C BC; Postlethwaite, Arnold E AE

Publication Date: 2015

Variant appearance in text: rs2233287

PubMed Link: 26106387

Variant Present in the following documents:

• Main text

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A20-Binding Inhibitor of NF-κB Activation 1 is a Physiologic Inhibitor of NF-κB: A Molecular Switch for Inflammation and Autoimmunity.

Arthritis & Rheumatology (Hoboken, N.J.)

G'Sell, Rachel T RT; Gaffney, Patrick M PM; Powell, David W DW

Publication Date: 2015-09

Variant appearance in text: rs2233287

PubMed Link: 26097105

Variant Present in the following documents:

• Main text

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Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.

Current Rheumatology Reports

Korman, Benjamin D BD; Criswell, Lindsey A LA

Publication Date: 2015-03

Variant appearance in text: rs2233287

PubMed Link: 25777745

Variant Present in the following documents:

• Main text
• 11926_2014_Article_484.pdf

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Intronic variants in the NFKB1 gene may influence hearing forecast in patients with unilateral sensorineural hearing loss in Meniere's disease.

Plos One

Cabrera, Sonia S; Sanchez, Elena E; Requena, Teresa T; Martinez-Bueno, Manuel M; Benitez, Jesus J; Perez, Nicolas N; Trinidad, Gabriel G; Soto-Varela, Andrés A; Santos-Perez, Sofía S; Martin-Sanz, Eduardo E; Fraile, Jesus J; Perez, Paz P; Alarcon-Riquelme, Marta E ME; Batuecas, Angel A; Espinosa-Sanchez, Juan M JM; Aran, Ismael I; Lopez-Escamez, Jose A JA

Publication Date: 2014

Variant appearance in text: rs2233287

PubMed Link: 25397881

Variant Present in the following documents:

• Main text

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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: rs2233287

PubMed Link: 25332064

Variant Present in the following documents:

• Main text
• 13075_2014_Article_438.pdf

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ABIN1 dysfunction as a genetic basis for lupus nephritis.

Journal Of The American Society Of Nephrology : Jasn

Caster, Dawn J DJ; Korte, Erik A EA; Nanda, Sambit K SK; McLeish, Kenneth R KR; Oliver, Rebecca K RK; G'sell, Rachel T RT; Sheehan, Ryan M RM; Freeman, Darrell W DW; Coventry, Susan C SC; Kelly, Jennifer A JA; Guthridge, Joel M JM; James, Judith A JA; Sivils, Kathy L KL; Alarcon-Riquelme, Marta E ME; Scofield, R Hal RH; Adrianto, Indra I; Gaffney, Patrick M PM; Stevens, Anne M AM; Freedman, Barry I BI; Langefeld, Carl D CD; Tsao, Betty P BP; Pons-Estel, Bernardo A BA; Jacob, Chaim O CO; Kamen, Diane L DL; Gilkeson, Gary S GS; Brown, Elizabeth E EE; Alarcon, Graciela S GS; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Martin, Javier J; Merrill, Joan T JT; Harley, John B JB; Kaufman, Kenneth M KM; Reveille, John D JD; Anaya, Juan-Manuel JM; Criswell, Lindsey A LA; Vila, Luis M LM; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Bae, Sang-Cheol SC; Boackle, Susan A SA; Vyse, Timothy J TJ; Niewold, Timothy B TB; Cohen, Philip P; Powell, David W DW

Publication Date: 2013-11

Variant appearance in text: rs2233287

PubMed Link: 23970121

Variant Present in the following documents:

• Main text

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Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

Annals Of Neurology

Gregersen, Peter K PK; Kosoy, Roman R; Lee, Annette T AT; Lamb, Janine J; Sussman, Jon J; McKee, David D; Simpfendorfer, Kim R KR; Pirskanen-Matell, Ritva R; Piehl, Frederik F; Pan-Hammarstrom, Qiang Q; Verschuuren, Jan J G M JJ; Titulaer, Maarten J MJ; Niks, Erik H EH; Marx, Alexander A; Ströbel, Philipp P; Tackenberg, Björn B; Pütz, Michael M; Maniaol, Angelina A; Elsais, Ahmed A; Tallaksen, Chantal C; Harbo, Hanne F HF; Lie, Benedicte A BA; Raychaudhuri, Soumya S; de Bakker, Paul I W PI; Melms, Arthur A; Garchon, Henri-Jean HJ; Willcox, Nicholas N; Hammarstrom, Lennart L; Seldin, Michael F MF

Publication Date: 2012-12

Variant appearance in text: rs2233287

PubMed Link: 23055271

Variant Present in the following documents:

• Main text

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Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.

Annals Of The Rheumatic Diseases

Bossini-Castillo, Lara L; Martin, Jose Ezequiel JE; Broen, Jasper J; Simeon, Carmen P CP; Beretta, Lorenzo L; Gorlova, Olga Y OY; Vonk, Madelon C MC; Ortego-Centeno, Norberto N; Espinosa, Gerard G; Carreira, Patricia P; García de la Peña, Paloma P; Oreiro, Natividad N; Román-Ivorra, José Andrés JA; Castillo, María Jesús MJ; González-Gay, Miguel A MA; Sáez-Comet, Luis L; Castellví, Ivan I; Schuerwegh, Annemie J AJ; Voskuyl, Alexandre E AE; Hoffmann-Vold, Anna-Maria AM; Hesselstrand, Roger R; Nordin, Annika A; Lunardi, Claudio C; Scorza, Raffaella R; van Laar, Jacob M JM; Shiels, Paul G PG; Herrick, Ariane A; Worthington, Jane J; Fonseca, Carmen C; Denton, Christopher C; Tan, Filemon K FK; Arnett, Frank C FC; Assassi, Shervin S; Koeleman, Bobby P BP; Mayes, Maureen D MD; Radstake, Timothy R D J TR; Martin, Javier J; ,

Publication Date: 2013-04

Variant appearance in text: rs2233287

PubMed Link: 22896740

Variant Present in the following documents:

• Main text

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Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus.

Arthritis And Rheumatism

Adrianto, Indra I; Wang, Shaofeng S; Wiley, Graham B GB; Lessard, Christopher J CJ; Kelly, Jennifer A JA; Adler, Adam J AJ; Glenn, Stuart B SB; Williams, Adrienne H AH; Ziegler, Julie T JT; Comeau, Mary E ME; Marion, Miranda C MC; Wakeland, Benjamin E BE; Liang, Chaoying C; Kaufman, Kenneth M KM; Guthridge, Joel M JM; Alarcón-Riquelme, Marta E ME; , ; Alarcón, Graciela S GS; Anaya, Juan-Manuel JM; Bae, Sang-Cheol SC; Kim, Jae-Hoon JH; Joo, Young Bin YB; Boackle, Susan A SA; Brown, Elizabeth E EE; Petri, Michelle A MA; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vilá, Luis M LM; Criswell, Lindsey A LA; Edberg, Jeffrey C JC; Freedman, Barry I BI; Gilkeson, Gary S GS; Jacob, Chaim O CO; James, Judith A JA; Kamen, Diane L DL; Kimberly, Robert P RP; Martín, Javier J; Merrill, Joan T JT; Niewold, Timothy B TB; Pons-Estel, Bernardo A BA; Scofield, R Hal RH; Stevens, Anne M AM; Tsao, Betty P BP; Vyse, Timothy J TJ; Langefeld, Carl D CD; Harley, John B JB; Wakeland, Edward K EK; Moser, Kathy L KL; Montgomery, Courtney G CG; Gaffney, Patrick M PM

Publication Date: 2012-11

Variant appearance in text: rs2233287

PubMed Link: 22833143

Variant Present in the following documents:

• Main text

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Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases.

The Journal Of Allergy And Clinical Immunology

Li, Xingnan X; Ampleford, Elizabeth J EJ; Howard, Timothy D TD; Moore, Wendy C WC; Torgerson, Dara G DG; Li, Huashi H; Busse, William W WW; Castro, Mario M; Erzurum, Serpil C SC; Israel, Elliot E; Nicolae, Dan L DL; Ober, Carole C; Wenzel, Sally E SE; Hawkins, Gregory A GA; Bleecker, Eugene R ER; Meyers, Deborah A DA

Publication Date: 2012-10

Variant appearance in text: rs2233287

PubMed Link: 22694930

Variant Present in the following documents:

• Main text

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Genetics of systemic sclerosis: an update.

Current Rheumatology Reports

Broen, Jasper C A JC; Coenen, Marieke J H MJ; Radstake, Timothy R D J TR

Publication Date: 2012-02

Variant appearance in text: rs2233287

PubMed Link: 22102179

Variant Present in the following documents:

• Main text

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Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

Plos Genetics

Allanore, Yannick Y; Saad, Mohamad M; Dieudé, Philippe P; Avouac, Jérôme J; Distler, Jorg H W JH; Amouyel, Philippe P; Matucci-Cerinic, Marco M; Riemekasten, Gabriella G; Airo, Paolo P; Melchers, Inga I; Hachulla, Eric E; Cusi, Daniele D; Wichmann, H-Erich HE; Wipff, Julien J; Lambert, Jean-Charles JC; Hunzelmann, Nicolas N; Tiev, Kiet K; Caramaschi, Paola P; Diot, Elisabeth E; Kowal-Bielecka, Otylia O; Valentini, Gabriele G; Mouthon, Luc L; Czirják, László L; Damjanov, Nemanja N; Salvi, Erika E; Conti, Costanza C; Müller, Martina M; Müller-Ladner, Ulf U; Riccieri, Valeria V; Ruiz, Barbara B; Cracowski, Jean-Luc JL; Letenneur, Luc L; Dupuy, Anne Marie AM; Meyer, Oliver O; Kahan, André A; Munnich, Arnold A; Boileau, Catherine C; Martinez, Maria M

Publication Date: 2011-07

Variant appearance in text: rs2233287

PubMed Link: 21750679

Variant Present in the following documents:

• Main text
• pgen.1002091.pdf

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Allelic skewing of DNA methylation is widespread across the genome.

American Journal Of Human Genetics

Schalkwyk, Leonard C LC; Meaburn, Emma L EL; Smith, Rebecca R; Dempster, Emma L EL; Jeffries, Aaron R AR; Davies, Matthew N MN; Plomin, Robert R; Mill, Jonathan J

Publication Date: 2010-02-12

Variant appearance in text: rs2233287

PubMed Link: 20159110

Variant Present in the following documents:

• Main text

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