UBASH3A c.1393+3A>C

Variant ID: 21-43855067-A-C

NM_018961.3(UBASH3A):c.1393+3A>C

This variant was identified in 43 publications

View GRCh38 version.




Publications:


The genetic liability to rheumatoid arthritis may decrease hepatocellular carcinoma risk in East Asian population: a Mendelian randomization study.

Arthritis Research & Therapy
Zhang, Yuzhuo Y; Zhang, Yudong Y; He, Peng P; Ge, Fan F; Huo, Zhenyu Z; Qiao, Guibin G
Publication Date: 2023-03-27

Variant appearance in text: rs1893592
PubMed Link: 36973792
Variant Present in the following documents:
  • Main text
  • 13075_2023_Article_3029.pdf
View BVdb publication page



IL-6 production through repression of UBASH3A gene via epigenetic dysregulation of super-enhancer in CD4+ T cells in rheumatoid arthritis.

Inflammation And Regeneration
Yamagata, Kaoru K; Nakayamada, Shingo S; Zhang, Tong T; Nguyen, Anh Phuong AP; Ohkubo, Naoaki N; Iwata, Shigeru S; Kato, Shigeaki S; Tanaka, Yoshiya Y
Publication Date: 2022-11-03

Variant appearance in text: rs1893592
PubMed Link: 36324153
Variant Present in the following documents:
  • Main text
  • 41232_2022_Article_231.pdf
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1893592
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



How genetic risk contributes to autoimmune liver disease.

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

Variant appearance in text: rs1893592
PubMed Link: 35650446
Variant Present in the following documents:
  • Main text
  • 281_2022_Article_950.pdf
View BVdb publication page



DNA Methylation of T Lymphocytes as a Therapeutic Target: Implications for Rheumatoid Arthritis Etiology.

Frontiers In Immunology
Zhao, Jianan J; Wei, Kai K; Chang, Cen C; Xu, Lingxia L; Jiang, Ping P; Guo, Shicheng S; Schrodi, Steven J SJ; He, Dongyi D
Publication Date: 2022

Variant appearance in text: rs1893592
PubMed Link: 35309322
Variant Present in the following documents:
  • Main text
  • fimmu-13-863703.pdf
View BVdb publication page



Methods for statistical fine-mapping and their applications to auto-immune diseases.

Seminars In Immunopathology
Wang, Qingbo S QS; Huang, Hailiang H
Publication Date: 2022-01

Variant appearance in text: rs1893592
PubMed Link: 35041074
Variant Present in the following documents:
  • Main text
  • 281_2021_Article_902.pdf
View BVdb publication page



Functional genomics atlas of synovial fibroblasts defining rheumatoid arthritis heritability.

Genome Biology
Ge, Xiangyu X; Frank-Bertoncelj, Mojca M; Klein, Kerstin K; McGovern, Amanda A; Kuret, Tadeja T; Houtman, Miranda M; Burja, Blaž B; Micheroli, Raphael R; Shi, Chenfu C; Marks, Miriam M; Filer, Andrew A; Buckley, Christopher D CD; Orozco, Gisela G; Distler, Oliver O; Morris, Andrew P AP; Martin, Paul P; Eyre, Stephen S; Ospelt, Caroline C
Publication Date: 2021-08-25

Variant appearance in text: rs1893592
PubMed Link: 34433485
Variant Present in the following documents:
  • Main text
  • 13059_2021_Article_2460.pdf
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs1893592
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs1893592
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: UBASH3A: 1393+3A>C; rs1893592
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1893592
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrative Analysis of Omics Data Reveals Regulatory Network of CDK10 in Vitiligo Risk.

Frontiers In Genetics
Cai, Minglong M; Yuan, Tao T; Huang, He H; Gui, Lan L; Zhang, Li L; Meng, Ziyuan Z; Wu, Wenjuan W; Sheng, Yujun Y; Zhang, Xuejun X
Publication Date: 2021

Variant appearance in text: rs1893592
PubMed Link: 33679896
Variant Present in the following documents:
  • Main text
  • fgene-12-634553.pdf
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs1893592
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
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: rs1893592
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population.

Disease Markers
Aslam, Muhammad Muaaz MM; John, Peter P; Fan, Kang-Hsien KH; Bhatti, Attya A; Aziz, Wajahat W; Ahmed, Bashir B; Feingold, Eleanor E; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2020

Variant appearance in text: rs1893592
PubMed Link: 32831971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk.

Nature Communications
Huang, Qin Qin QQ; Tang, Howard H F HHF; Teo, Shu Mei SM; Mok, Danny D; Ritchie, Scott C SC; Nath, Artika P AP; Brozynska, Marta M; Salim, Agus A; Bakshi, Andrew A; Holt, Barbara J BJ; Khor, Chiea Chuen CC; Sly, Peter D PD; Holt, Patrick G PG; Holt, Kathryn E KE; Inouye, Michael M
Publication Date: 2020-07-28

Variant appearance in text: rs1893592
PubMed Link: 32724101
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_17477.pdf
View BVdb publication page



Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.

International Journal Of Molecular Sciences
Mikhaylenko, Dmitry S DS; Nemtsova, Marina V MV; Bure, Irina V IV; Kuznetsova, Ekaterina B EB; Alekseeva, Ekaterina A EA; Tarasov, Vadim V VV; Lukashev, Alexander N AN; Beloukhova, Marina I MI; Deviatkin, Andrei A AA; Zamyatnin, Andrey A AA
Publication Date: 2020-07-11

Variant appearance in text: rs1893592
PubMed Link: 32664585
Variant Present in the following documents:
  • Main text
  • ijms-21-04911.pdf
View BVdb publication page



Resolving mechanisms of immune-mediated disease in primary CD4 T cells.

Embo Molecular Medicine
Bourges, Christophe C; Groff, Abigail F AF; Burren, Oliver S OS; Gerhardinger, Chiara C; Mattioli, Kaia K; Hutchinson, Anna A; Hu, Theodore T; Anand, Tanmay T; Epping, Madeline W MW; Wallace, Chris C; Smith, Kenneth Gc KG; Rinn, John L JL; Lee, James C JC
Publication Date: 2020-05-08

Variant appearance in text: rs1893592
PubMed Link: 32239644
Variant Present in the following documents:
  • EMMM-12-e12112.pdf
View BVdb publication page



Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing.

Frontiers In Genetics
Mucaki, Eliseos J EJ; Shirley, Ben C BC; Rogan, Peter K PK
Publication Date: 2020

Variant appearance in text: UBASH3A: 1393+3A>C; rs1893592
PubMed Link: 32211018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rheumatoid Arthritis Patients, Both Newly Diagnosed and Methotrexate Treated, Show More DNA Methylation Differences in CD4+ Memory Than in CD4+ Naïve T Cells.

Frontiers In Immunology
Guderud, Kari K; Sunde, Line H LH; Flåm, Siri T ST; Mæhlen, Marthe T MT; Mjaavatten, Maria D MD; Lillegraven, Siri S; Aga, Anna-Birgitte AB; Evenrød, Ida M IM; Norli, Ellen S ES; Andreassen, Bettina K BK; Franzenburg, Sören S; Franke, Andre A; Haavardsholm, Espen A EA; Rayner, Simon S; Gervin, Kristina K; Lie, Benedicte A BA
Publication Date: 2020

Variant appearance in text: rs1893592
PubMed Link: 32117312
Variant Present in the following documents:
  • Main text
  • fimmu-11-00194.pdf
View BVdb publication page



Advances in genetics toward identifying pathogenic cell states of rheumatoid arthritis.

Immunological Reviews
Amariuta, Tiffany T; Luo, Yang Y; Knevel, Rachel R; Okada, Yukinori Y; Raychaudhuri, Soumya S
Publication Date: 2020-03

Variant appearance in text: rs1893592
PubMed Link: 31782165
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs1893592
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications
Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2019-04-23

Variant appearance in text: rs1893592
PubMed Link: 31015401
Variant Present in the following documents:
  • 41467_2019_9572_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.

Genome Medicine
Márquez, Ana A; Kerick, Martin M; Zhernakova, Alexandra A; Gutierrez-Achury, Javier J; Chen, Wei-Min WM; Onengut-Gumuscu, Suna S; González-Álvaro, Isidoro I; Rodriguez-Rodriguez, Luis L; Rios-Fernández, Raquel R; González-Gay, Miguel A MA; , ; , ; , ; , ; Mayes, Maureen D MD; Raychaudhuri, Soumya S; Rich, Stephen S SS; Wijmenga, Cisca C; Martín, Javier J
Publication Date: 2018-12-20

Variant appearance in text: rs1893592
PubMed Link: 30572963
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_604.pdf
View BVdb publication page



Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

Human Molecular Genetics
Laufer, Vincent A VA; Tiwari, Hemant K HK; Reynolds, Richard J RJ; Danila, Maria I MI; Wang, Jelai J; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Kottyan, Leah C LC; Harley, John B JB; Mikuls, Ted R TR; Gregersen, Peter K PK; Absher, Devin M DM; Langefeld, Carl D CD; Arnett, Donna K DK; Bridges, S Louis SL
Publication Date: 2019-03-01

Variant appearance in text: rs1893592
PubMed Link: 30423114
Variant Present in the following documents:
  • Main text
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: UBASH3A: 1393+3A>C; rs1893592
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Evidence that UBASH3 is a causal gene for type 1 diabetes.

European Journal Of Human Genetics : Ejhg
Todd, John A JA
Publication Date: 2018-07

Variant appearance in text: rs1893592
PubMed Link: 29760431
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes.

European Journal Of Human Genetics : Ejhg
Ge, Yan Y; Concannon, Patrick P
Publication Date: 2018-07

Variant appearance in text: rs1893592
PubMed Link: 29491471
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the association of UBASH3A and SYNGR1 with rheumatoid arthritis and disease activity and severity in Han Chinese.

Oncotarget
Liu, Dan D; Liu, Jiayu J; Cui, Guofeng G; Yang, Haojie H; Cao, Tuanping T; Wang, Li L
Publication Date: 2017-11-28

Variant appearance in text: rs1893592
PubMed Link: 29262569
Variant Present in the following documents:
  • Main text
  • oncotarget-08-103385.pdf
View BVdb publication page



Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes.

Genome Research
Newman, Jeremy R B JRB; Conesa, Ana A; Mika, Matthew M; New, Felicia N FN; Onengut-Gumuscu, Suna S; Atkinson, Mark A MA; Rich, Stephen S SS; McIntyre, Lauren M LM; Concannon, Patrick P
Publication Date: 2017-11

Variant appearance in text: rs1893592
PubMed Link: 29025893
Variant Present in the following documents:
  • Main text
  • 1807.pdf
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: rs1893592
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: rs1893592
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 2
View BVdb publication page



Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

Nature Genetics
Ji, Sun-Gou SG; Juran, Brian D BD; Mucha, Sören S; Folseraas, Trine T; Jostins, Luke L; Melum, Espen E; Kumasaka, Natsuhiko N; Atkinson, Elizabeth J EJ; Schlicht, Erik M EM; Liu, Jimmy Z JZ; Shah, Tejas T; Gutierrez-Achury, Javier J; Boberg, Kirsten M KM; Bergquist, Annika A; Vermeire, Severine S; Eksteen, Bertus B; Durie, Peter R PR; Farkkila, Martti M; Müller, Tobias T; Schramm, Christoph C; Sterneck, Martina M; Weismüller, Tobias J TJ; Gotthardt, Daniel N DN; Ellinghaus, David D; Braun, Felix F; Teufel, Andreas A; Laudes, Mattias M; Lieb, Wolfgang W; Jacobs, Gunnar G; Beuers, Ulrich U; Weersma, Rinse K RK; Wijmenga, Cisca C; Marschall, Hanns-Ulrich HU; Milkiewicz, Piotr P; Pares, Albert A; Kontula, Kimmo K; Chazouillères, Olivier O; Invernizzi, Pietro P; Goode, Elizabeth E; Spiess, Kelly K; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem H WH; Roberts, David J DJ; Danesh, John J; Floreani, Annarosa A; Gulamhusein, Aliya F AF; Eaton, John E JE; Schreiber, Stefan S; Coltescu, Catalina C; Bowlus, Christopher L CL; Luketic, Velimir A VA; Odin, Joseph A JA; Chopra, Kapil B KB; Kowdley, Kris V KV; Chalasani, Naga N; Manns, Michael P MP; Srivastava, Brijesh B; Mells, George G; Sandford, Richard N RN; Alexander, Graeme G; Gaffney, Daniel J DJ; Chapman, Roger W RW; Hirschfield, Gideon M GM; de Andrade, Mariza M; , ; , ; , ; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; Anderson, Carl A CA
Publication Date: 2017-02

Variant appearance in text: rs1893592
PubMed Link: 27992413
Variant Present in the following documents:
  • Main text
  • nihms831185.pdf
View BVdb publication page



Association-heterogeneity mapping identifies an Asian-specific association of the GTF2I locus with rheumatoid arthritis.

Scientific Reports
Kim, Kwangwoo K; Bang, So-Young SY; Ikari, Katsunori K; Yoo, Dae Hyun DH; Cho, Soo-Kyung SK; Choi, Chan-Bum CB; Sung, Yoon-Kyoung YK; Kim, Tae-Hwan TH; Jun, Jae-Bum JB; Kang, Young Mo YM; Suh, Chang-Hee CH; Shim, Seung-Cheol SC; Lee, Shin-Seok SS; Lee, Jisoo J; Chung, Won Tae WT; Kim, Seong-Kyu SK; Choe, Jung-Yoon JY; Momohara, Shigeki S; Taniguchi, Atsuo A; Yamanaka, Hisashi H; Nath, Swapan K SK; Lee, Hye-Soon HS; Bae, Sang-Cheol SC
Publication Date: 2016-06-08

Variant appearance in text: rs1893592
PubMed Link: 27272985
Variant Present in the following documents:
  • Main text
  • srep27563.pdf
View BVdb publication page



Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

Nature Genetics
Ellinghaus, David D; Jostins, Luke L; Spain, Sarah L SL; Cortes, Adrian A; Bethune, Jörn J; Han, Buhm B; Park, Yu Rang YR; Raychaudhuri, Soumya S; Pouget, Jennie G JG; Hübenthal, Matthias M; Folseraas, Trine T; Wang, Yunpeng Y; Esko, Tonu T; Metspalu, Andres A; Westra, Harm-Jan HJ; Franke, Lude L; Pers, Tune H TH; Weersma, Rinse K RK; Collij, Valerie V; D'Amato, Mauro M; Halfvarson, Jonas J; Jensen, Anders Boeck AB; Lieb, Wolfgang W; Degenhardt, Franziska F; Forstner, Andreas J AJ; Hofmann, Andrea A; , ; , ; , ; , ; , ; Schreiber, Stefan S; Mrowietz, Ulrich U; Juran, Brian D BD; Lazaridis, Konstantinos N KN; Brunak, Søren S; Dale, Anders M AM; Trembath, Richard C RC; Weidinger, Stephan S; Weichenthal, Michael M; Ellinghaus, Eva E; Elder, James T JT; Barker, Jonathan N W N JN; Andreassen, Ole A OA; McGovern, Dermot P DP; Karlsen, Tom H TH; Barrett, Jeffrey C JC; Parkes, Miles M; Brown, Matthew A MA; Franke, Andre A
Publication Date: 2016-05

Variant appearance in text: rs1893592
PubMed Link: 26974007
Variant Present in the following documents:
  • Main text
  • nihms-762030.pdf
  • NIHMS762030-supplement-1.pdf
View BVdb publication page



Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.

Human Molecular Genetics
Gutierrez-Achury, Javier J; Zorro, Maria Magdalena MM; Ricaño-Ponce, Isis I; Zhernakova, Daria V DV; , ; Diogo, Dorothée D; Raychaudhuri, Soumya S; Franke, Lude L; Trynka, Gosia G; Wijmenga, Cisca C; Zhernakova, Alexandra A
Publication Date: 2016-01-01

Variant appearance in text: rs1893592
PubMed Link: 26546613
Variant Present in the following documents:
  • Main text
View BVdb publication page



Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies.

American Journal Of Human Genetics
Kichaev, Gleb G; Pasaniuc, Bogdan B
Publication Date: 2015-08-06

Variant appearance in text: rs1893592
PubMed Link: 26189819
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics
Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J
Publication Date: 2015

Variant appearance in text: rs1893592
PubMed Link: 26110739
Variant Present in the following documents:
  • 1471-2164-16-S8-S4-S1.pdf
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: rs1893592
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 4
View BVdb publication page



The genetics of rheumatoid arthritis: risk and protection in different stages of the evolution of RA.

Rheumatology (Oxford, England)
Yarwood, Annie A; Huizinga, Tom W J TW; Worthington, Jane J
Publication Date: 2016-02

Variant appearance in text: rs1893592
PubMed Link: 25239882
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

Annals Of The Rheumatic Diseases
Kim, Kwangwoo K; Bang, So-Young SY; Lee, Hye-Soon HS; Cho, Soo-Kyung SK; Choi, Chan-Bum CB; Sung, Yoon-Kyoung YK; Kim, Tae-Hwan TH; Jun, Jae-Bum JB; Yoo, Dae Hyun DH; Kang, Young Mo YM; Kim, Seong-Kyu SK; Suh, Chang-Hee CH; Shim, Seung-Cheol SC; Lee, Shin-Seok SS; Lee, Jisoo J; Chung, Won Tae WT; Choe, Jung-Yoon JY; Shin, Hyoung Doo HD; Lee, Jong-Young JY; Han, Bok-Ghee BG; Nath, Swapan K SK; Eyre, Steve S; Bowes, John J; Pappas, Dimitrios A DA; Kremer, Joel M JM; Gonzalez-Gay, Miguel A MA; Rodriguez-Rodriguez, Luis L; Ärlestig, Lisbeth L; Okada, Yukinori Y; Diogo, Dorothée D; Liao, Katherine P KP; Karlson, Elizabeth W EW; Raychaudhuri, Soumya S; Rantapää-Dahlqvist, Solbritt S; Martin, Javier J; Klareskog, Lars L; Padyukov, Leonid L; Gregersen, Peter K PK; Worthington, Jane J; Greenberg, Jeffrey D JD; Plenge, Robert M RM; Bae, Sang-Cheol SC
Publication Date: 2015-03

Variant appearance in text: rs1893592
PubMed Link: 24532676
Variant Present in the following documents:
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Genetics of rheumatoid arthritis contributes to biology and drug discovery.

Nature
Okada, Yukinori Y; Wu, Di D; Trynka, Gosia G; Raj, Towfique T; Terao, Chikashi C; Ikari, Katsunori K; Kochi, Yuta Y; Ohmura, Koichiro K; Suzuki, Akari A; Yoshida, Shinji S; Graham, Robert R RR; Manoharan, Arun A; Ortmann, Ward W; Bhangale, Tushar T; Denny, Joshua C JC; Carroll, Robert J RJ; Eyler, Anne E AE; Greenberg, Jeffrey D JD; Kremer, Joel M JM; Pappas, Dimitrios A DA; Jiang, Lei L; Yin, Jian J; Ye, Lingying L; Su, Ding-Feng DF; Yang, Jian J; Xie, Gang G; Keystone, Ed E; Westra, Harm-Jan HJ; Esko, Tõnu T; Metspalu, Andres A; Zhou, Xuezhong X; Gupta, Namrata N; Mirel, Daniel D; Stahl, Eli A EA; Diogo, Dorothée D; Cui, Jing J; Liao, Katherine K; Guo, Michael H MH; Myouzen, Keiko K; Kawaguchi, Takahisa T; Coenen, Marieke J H MJ; van Riel, Piet L C M PL; van de Laar, Mart A F J MA; Guchelaar, Henk-Jan HJ; Huizinga, Tom W J TW; Dieudé, Philippe P; Mariette, Xavier X; Bridges, S Louis SL; Zhernakova, Alexandra A; Toes, Rene E M RE; Tak, Paul P PP; Miceli-Richard, Corinne C; Bang, So-Young SY; Lee, Hye-Soon HS; Martin, Javier J; Gonzalez-Gay, Miguel A MA; Rodriguez-Rodriguez, Luis L; Rantapää-Dahlqvist, Solbritt S; Arlestig, Lisbeth L; Choi, Hyon K HK; Kamatani, Yoichiro Y; Galan, Pilar P; Lathrop, Mark M; , ; , ; Eyre, Steve S; Bowes, John J; Barton, Anne A; de Vries, Niek N; Moreland, Larry W LW; Criswell, Lindsey A LA; Karlson, Elizabeth W EW; Taniguchi, Atsuo A; Yamada, Ryo R; Kubo, Michiaki M; Liu, Jun S JS; Bae, Sang-Cheol SC; Worthington, Jane J; Padyukov, Leonid L; Klareskog, Lars L; Gregersen, Peter K PK; Raychaudhuri, Soumya S; Stranger, Barbara E BE; De Jager, Philip L PL; Franke, Lude L; Visscher, Peter M PM; Brown, Matthew A MA; Yamanaka, Hisashi H; Mimori, Tsuneyo T; Takahashi, Atsushi A; Xu, Huji H; Behrens, Timothy W TW; Siminovitch, Katherine A KA; Momohara, Shigeki S; Matsuda, Fumihiko F; Yamamoto, Kazuhiko K; Plenge, Robert M RM
Publication Date: 2014-02-20

Variant appearance in text: rs1893592
PubMed Link: 24390342
Variant Present in the following documents:
  • NIHMS539022-supplement-2.pdf
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Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Nature Genetics
Trynka, Gosia G; Hunt, Karen A KA; Bockett, Nicholas A NA; Romanos, Jihane J; Mistry, Vanisha V; Szperl, Agata A; Bakker, Sjoerd F SF; Bardella, Maria Teresa MT; Bhaw-Rosun, Leena L; Castillejo, Gemma G; de la Concha, Emilio G EG; de Almeida, Rodrigo Coutinho RC; Dias, Kerith-Rae M KR; van Diemen, Cleo C CC; Dubois, Patrick C A PC; Duerr, Richard H RH; Edkins, Sarah S; Franke, Lude L; Fransen, Karin K; Gutierrez, Javier J; Heap, Graham A R GA; Hrdlickova, Barbara B; Hunt, Sarah S; Plaza Izurieta, Leticia L; Izzo, Valentina V; Joosten, Leo A B LA; Langford, Cordelia C; Mazzilli, Maria Cristina MC; Mein, Charles A CA; Midah, Vandana V; Mitrovic, Mitja M; Mora, Barbara B; Morelli, Marinita M; Nutland, Sarah S; Núñez, Concepción C; Onengut-Gumuscu, Suna S; Pearce, Kerra K; Platteel, Mathieu M; Polanco, Isabel I; Potter, Simon S; Ribes-Koninckx, Carmen C; Ricaño-Ponce, Isis I; Rich, Stephen S SS; Rybak, Anna A; Santiago, José Luis JL; Senapati, Sabyasachi S; Sood, Ajit A; Szajewska, Hania H; Troncone, Riccardo R; Varadé, Jezabel J; Wallace, Chris C; Wolters, Victorien M VM; Zhernakova, Alexandra A; , ; , ; , ; Thelma, B K BK; Cukrowska, Bozena B; Urcelay, Elena E; Bilbao, Jose Ramon JR; Mearin, M Luisa ML; Barisani, Donatella D; Barrett, Jeffrey C JC; Plagnol, Vincent V; Deloukas, Panos P; Wijmenga, Cisca C; van Heel, David A DA
Publication Date: 2011-11-06

Variant appearance in text: rs1893592
PubMed Link: 22057235
Variant Present in the following documents:
  • Main text
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