IL2RA c.64+5102G>A

Variant ID: 10-6098949-C-T

NM_000417.2(IL2RA):c.64+5102G>A

This variant was identified in 67 publications

View GRCh38 version.




Publications:


Immune cells and their related genes provide a new perspective on the common pathogenesis of ankylosing spondylitis and inflammatory bowel diseases.

Frontiers In Immunology
Ding, Yimei Y; Yang, Yue Y; Xue, Luan L
Publication Date: 2023

Variant appearance in text: rs706778
PubMed Link: 37063924
Variant Present in the following documents:
  • Main text
  • fimmu-14-1137523.pdf
View BVdb publication page



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: rs706778
PubMed Link: 36973792
Variant Present in the following documents:
  • Main text
  • 13075_2023_Article_3029.pdf
View BVdb publication page



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: rs706778
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset.

Annals Of The Rheumatic Diseases
Saevarsdottir, Saedis S; Stefansdottir, Lilja L; Sulem, Patrick P; Thorleifsson, Gudmar G; Ferkingstad, Egil E; Rutsdottir, Gudrun G; Glintborg, Bente B; Westerlind, Helga H; Grondal, Gerdur G; Loft, Isabella C IC; Sorensen, Signe Bek SB; Lie, Benedicte A BA; Brink, Mikael M; Ärlestig, Lisbeth L; Arnthorsson, Asgeir Orn AO; Baecklund, Eva E; Banasik, Karina K; Bank, Steffen S; Bjorkman, Lena I LI; Ellingsen, Torkell T; Erikstrup, Christian C; Frei, Oleksandr O; Gjertsson, Inger I; Gudbjartsson, Daniel F DF; Gudjonsson, Sigurjon A SA; Halldorsson, Gisli H GH; Hendricks, Oliver O; Hillert, Jan J; Hogdall, Estrid E; Jacobsen, Søren S; Jensen, Dorte Vendelbo DV; Jonsson, Helgi H; Kastbom, Alf A; Kockum, Ingrid I; Kristensen, Salome S; Kristjansdottir, Helga H; Larsen, Margit H MH; Linauskas, Asta A; Hauge, Ellen-Margrethe EM; Loft, Anne G AG; Ludviksson, Bjorn R BR; Lund, Sigrun H SH; Markusson, Thorsteinn T; Masson, Gisli G; Melsted, Pall P; Moore, Kristjan H S KHS; Munk, Heidi H; Nielsen, Kaspar R KR; Norddahl, Gudmundur L GL; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Olason, Pall I PI; Olsson, Tomas T; Ostrowski, Sisse Rye SR; Hørslev-Petersen, Kim K; Rognvaldsson, Solvi S; Sanner, Helga H; Silberberg, Gilad N GN; Stefansson, Hreinn H; Sørensen, Erik E; Sørensen, Inge J IJ; Turesson, Carl C; Bergman, Thomas T; Alfredsson, Lars L; Kvien, Tore K TK; Brunak, Søren S; Steinsson, Kristján K; Andersen, Vibeke V; Andreassen, Ole A OA; Rantapää-Dahlqvist, Solbritt S; Hetland, Merete Lund ML; Klareskog, Lars L; Askling, Johan J; Padyukov, Leonid L; Pedersen, Ole Bv OB; Thorsteinsdottir, Unnur U; Jonsdottir, Ingileif I; Stefansson, Kari K; , ; , ; ,
Publication Date: 2022-08

Variant appearance in text: rs706778
PubMed Link: 35470158
Variant Present in the following documents:
  • Main text
  • annrheumdis-2021-221754.pdf
View BVdb publication page



Genetics of rheumatoid arthritis.

Seminars In Immunopathology
Padyukov, Leonid L
Publication Date: 2022-01

Variant appearance in text: rs706778
PubMed Link: 35088123
Variant Present in the following documents:
  • Main text
  • 281_2022_Article_912.pdf
View BVdb publication page



Mutation of Hashimoto's Thyroiditis and Papillary Thyroid Carcinoma Related Genes and the Screening of Candidate Genes.

Frontiers In Oncology
Zhang, Lizhuo L; Zhou, Lingyan L; Feng, Qingqing Q; Li, Qinglin Q; Ge, Minghua M
Publication Date: 2021

Variant appearance in text: rs706778
PubMed Link: 34993154
Variant Present in the following documents:
  • Main text
  • fonc-11-813802.pdf
View BVdb publication page



Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis.

Plos One
Gil-Quiñones, S R SR; Sepúlveda-Pachón, I T IT; Sánchez Vanegas, G G; Gutierrez-Castañeda, L D LD
Publication Date: 2021

Variant appearance in text: rs706778
PubMed Link: 34735462
Variant Present in the following documents:
  • Main text
  • pone.0258499.pdf
View BVdb publication page



Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis.

Plos One
Gil-Quiñones, S R SR; Sepúlveda-Pachón, I T IT; Sánchez Vanegas, G G; Gutierrez-Castañeda, L D LD
Publication Date: 2021

Variant appearance in text: rs706778
PubMed Link: 34735462
Variant Present in the following documents:
  • Main text
  • pone.0258499.pdf
View BVdb publication page



The flashfm approach for fine-mapping multiple quantitative traits.

Nature Communications
Hernández, N N; Soenksen, J J; Newcombe, P P; Sandhu, M M; Barroso, I I; Wallace, C C; Asimit, J L JL
Publication Date: 2021-10-22

Variant appearance in text: rs706778
PubMed Link: 34686674
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26364.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: rs706778
PubMed Link: 34433485
Variant Present in the following documents:
  • Main text
  • 13059_2021_Article_2460.pdf
View BVdb publication page



Type 1 diabetes: genes associated with disease development.

Central-European Journal Of Immunology
Klak, Marta M; Gomółka, Magdalena M; Kowalska, Patrycja P; Cichoń, Justyna J; Ambrożkiewicz, Filip F; Serwańska-Świętek, Marta M; Berman, Andrzej A; Wszoła, Michał M
Publication Date: 2020

Variant appearance in text: rs706778
PubMed Link: 33658892
Variant Present in the following documents:
  • Main text
  • CEJI-45-43203.pdf
View BVdb publication page



Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms.

Annals Of The Rheumatic Diseases
López-Isac, Elena E; Smith, Samantha L SL; Marion, Miranda C MC; Wood, Abigail A; Sudman, Marc M; Yarwood, Annie A; Shi, Chenfu C; Gaddi, Vasanthi Priyadarshini VP; Martin, Paul P; Prahalad, Sampath S; Eyre, Stephen S; Orozco, Gisela G; Morris, Andrew P AP; Langefeld, Carl D CD; Thompson, Susan D SD; Thomson, Wendy W; Bowes, John J
Publication Date: 2020-10-26

Variant appearance in text: rs706778
PubMed Link: 33106285
Variant Present in the following documents:
  • Main text
  • annrheumdis-2020-218481.pdf
View BVdb publication page



Combined genetic analysis of juvenile idiopathic arthritis clinical subtypes identifies novel risk loci, target genes and key regulatory mechanisms.

Annals Of The Rheumatic Diseases
López-Isac, Elena E; Smith, Samantha L SL; Marion, Miranda C MC; Wood, Abigail A; Sudman, Marc M; Yarwood, Annie A; Shi, Chenfu C; Gaddi, Vasanthi Priyadarshini VP; Martin, Paul P; Prahalad, Sampath S; Eyre, Stephen S; Orozco, Gisela G; Morris, Andrew P AP; Langefeld, Carl D CD; Thompson, Susan D SD; Thomson, Wendy W; Bowes, John J
Publication Date: 2021-03

Variant appearance in text: rs706778
PubMed Link: 33106285
Variant Present in the following documents:
  • Main text
  • annrheumdis-2020-218481.pdf
View BVdb publication page



Genetics of fulminant type 1 diabetes.

Diabetology International
Kawabata, Yumiko Y; Ikegami, Hiroshi H
Publication Date: 2020-10

Variant appearance in text: rs706778
PubMed Link: 33088637
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Multi-Omics Architecture of Juvenile Idiopathic Arthritis.

Cells
Hou, Xiaoyuan X; Qu, Huiqi H; Zhang, Sipeng S; Qi, Xiaohui X; Hakonarson, Hakon H; Xia, Qianghua Q; Li, Jin J
Publication Date: 2020-10-15

Variant appearance in text: rs706778
PubMed Link: 33076506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Association Study of IL2RA, IFIH1, and CTLA-4 Polymorphisms With Autoimmune Thyroid Diseases and Type 1 Diabetes.

Frontiers In Pediatrics
Borysewicz-Sańczyk, Hanna H; Sawicka, Beata B; Wawrusiewicz-Kurylonek, Natalia N; Głowińska-Olszewska, Barbara B; Kadłubiska, Anna A; Gościk, Joanna J; Szadkowska, Agnieszka A; Łosiewicz, Aleksandra A; Młynarski, Wojciech W; Kretowski, Adam A; Bossowski, Artur A
Publication Date: 2020

Variant appearance in text: rs706778
PubMed Link: 32974248
Variant Present in the following documents:
  • Main text
  • fped-08-00481.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: rs706778
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: rs706778
PubMed Link: 32831971
Variant Present in the following documents:
  • Main text
  • DM2020-1910215.pdf
View BVdb publication page



Association analysis in a Latin American population revealed ethnic differences in rheumatoid arthritis-associated SNPs in Caucasian and Asian populations.

Scientific Reports
Castro-Santos, P P; Verdugo, R A RA; Alonso-Arias, R R; Gutiérrez, M A MA; Suazo, J J; Aguillón, J C JC; Olloquequi, J J; Pinochet, C C; Lucia, A A; Quiñones, L A LA; Díaz-Peña, R R
Publication Date: 2020-05-12

Variant appearance in text: rs706778
PubMed Link: 32398702
Variant Present in the following documents:
View BVdb publication page



Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis.

Peerj
Jia, Jun J; Li, Junyi J; Yao, Xueming X; Zhang, YuHang Y; Yang, Xiaohao X; Wang, Ping P; Xia, Qianghua Q; Hakonarson, Hakon H; Li, Jin J
Publication Date: 2020

Variant appearance in text: rs706778
PubMed Link: 31988799
Variant Present in the following documents:
  • Main text
  • peerj-08-8234.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: rs706778
PubMed Link: 31782165
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of diabetic neuropathy: Systematic review, meta-analysis and trial sequential analysis.

Annals Of Clinical And Translational Neurology
Zhao, Yating Y; Zhu, Ruixia R; Wang, Danni D; Liu, Xu X
Publication Date: 2019-10

Variant appearance in text: rs706778
PubMed Link: 31557408
Variant Present in the following documents:
  • Main text
  • ACN3-6-1996.pdf
View BVdb publication page



Stochastic search and joint fine-mapping increases accuracy and identifies previously unreported associations in immune-mediated diseases.

Nature Communications
Asimit, Jennifer L JL; Rainbow, Daniel B DB; Fortune, Mary D MD; Grinberg, Nastasiya F NF; Wicker, Linda S LS; Wallace, Chris C
Publication Date: 2019-07-19

Variant appearance in text: rs706778
PubMed Link: 31324808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in the BACH2 and CLEC16A gene might be associated with susceptibility to insulin-triggered type 1 diabetes.

Journal Of Diabetes Investigation
Onuma, Hiroshi H; Kawamura, Ryoichi R; Tabara, Yasuharu Y; Yamashita, Masakatsu M; Ohashi, Jun J; Kawasaki, Eiji E; Imagawa, Akihisa A; Yamada, Yuya Y; Chujo, Daisuke D; Takahashi, Kenji K; Suehiro, Tadashi T; Takata, Yasunori Y; Osawa, Haruhiko H; Makino, Hideichi H
Publication Date: 2019-11

Variant appearance in text: rs706778
PubMed Link: 30970177
Variant Present in the following documents:
  • Main text
  • JDI-10-1447.pdf
View BVdb publication page



Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.

Journal Of Clinical Medicine
Lee, Kwang Seob KS; Kronbichler, Andreas A; Pereira Vasconcelos, Daniel Fernando DF; Pereira da Silva, Felipe Rodolfo FR; Ko, Younhee Y; Oh, Yeon Su YS; Eisenhut, Michael M; Merkel, Peter A PA; Jayne, David D; Amos, Christopher I CI; Siminovitch, Katherine A KA; Rahmattulla, Chinar C; Lee, Keum Hwa KH; Shin, Jae Il JI
Publication Date: 2019-02-21

Variant appearance in text: rs706778
PubMed Link: 30795559
Variant Present in the following documents:
  • jcm-08-00266-s001.pdf
View BVdb publication page



Polymorphisms in the TGFB1 and IL2RA genes are associated with clinical forms of leprosy in Brazilian population.

Memorias Do Instituto Oswaldo Cruz
Camargo, Rodrigo Mendes de RM; Silva, Weber Laurentino da WLD; Medeiros, Priscila P; Belone, Andrea de Faria Fernandes AFF; Latini, Ana Carla Pereira ACP
Publication Date: 2018-12-10

Variant appearance in text: rs706778
PubMed Link: 30540075
Variant Present in the following documents:
  • Main text
  • 1678-8060-mioc-113-12-e180274.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: rs706778
PubMed Link: 30423114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes.

Nature Genetics
Westra, Harm-Jan HJ; Martínez-Bonet, Marta M; Onengut-Gumuscu, Suna S; Lee, Annette A; Luo, Yang Y; Teslovich, Nikola N; Worthington, Jane J; Martin, Javier J; Huizinga, Tom T; Klareskog, Lars L; Rantapaa-Dahlqvist, Solbritt S; Chen, Wei-Min WM; Quinlan, Aaron A; Todd, John A JA; Eyre, Steve S; Nigrovic, Peter A PA; Gregersen, Peter K PK; Rich, Stephen S SS; Raychaudhuri, Soumya S
Publication Date: 2018-10

Variant appearance in text: rs706778
PubMed Link: 30224649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dynamic demethylation of the IL2RA promoter during in vitro CD4+ T cell activation in association with IL2RA expression.

Epigenetics
Belot, Marie-Pierre MP; Castell, Anne-Laure AL; Le Fur, Sophie S; Bougnères, Pierre P
Publication Date: 2018

Variant appearance in text: rs706778
PubMed Link: 30096258
Variant Present in the following documents:
  • Main text
View BVdb publication page



A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.

Diabetologia
Johnson, Matthew B MB; Patel, Kashyap A KA; De Franco, Elisa E; Houghton, Jayne A L JAL; McDonald, Timothy J TJ; Ellard, Sian S; Flanagan, Sarah E SE; Hattersley, Andrew T AT
Publication Date: 2018-04

Variant appearance in text: rs706778
PubMed Link: 29417186
Variant Present in the following documents:
  • Main text
  • 125_2018_Article_4551.pdf
View BVdb publication page



Two separate effects contribute to regulatory T cell defect in systemic lupus erythematosus patients and their unaffected relatives.

Clinical And Experimental Immunology
Costa, N N; Marques, O O; Godinho, S I SI; Carvalho, C C; Leal, B B; Figueiredo, A M AM; Vasconcelos, C C; Marinho, A A; Moraes-Fontes, M F MF; Gomes da Costa, A A; Ponte, C C; Campanilho-Marques, R R; Cóias, T T; Martins, A R AR; Viana, J F JF; Lima, M M; Martins, B B; Fesel, C C
Publication Date: 2017-09

Variant appearance in text: rs706778
PubMed Link: 28542701
Variant Present in the following documents:
  • Main text
  • CEI-189-318.pdf
View BVdb publication page



The single nucleotide variant rs12722489 determines differential estrogen receptor binding and enhancer properties of an IL2RA intronic region.

Plos One
Afanasyeva, Marina A MA; Putlyaeva, Lidia V LV; Demin, Denis E DE; Kulakovskiy, Ivan V IV; Vorontsov, Ilya E IE; Fridman, Marina V MV; Makeev, Vsevolod J VJ; Kuprash, Dmitry V DV; Schwartz, Anton M AM
Publication Date: 2017

Variant appearance in text: rs706778
PubMed Link: 28234966
Variant Present in the following documents:
  • Main text
  • pone.0172681.pdf
View BVdb publication page



Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+IL-17+ cells.

Genes And Immunity
Marwaha, A K AK; Panagiotopoulos, C C; Biggs, C M CM; Staiger, S S; Del Bel, K L KL; Hirschfeld, A F AF; Priatel, J J JJ; Turvey, S E SE; Tan, R R
Publication Date: 2017-01

Variant appearance in text: rs706778
PubMed Link: 28053319
Variant Present in the following documents:
  • Main text
View BVdb publication page



ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese.

Meta Gene
Sun, Chengjun C; Wei, Haiyan H; Chen, Xiuli X; Zhao, Zhuhui Z; Du, Hongwei H; Song, Wenhui W; Yang, Yu Y; Zhang, Miaoying M; Lu, Wei W; Pei, Zhou Z; Xi, Li L; Yan, Jian J; Zhi, Dijing D; Cheng, Ruoqian R; Luo, Feihong F
Publication Date: 2016-09

Variant appearance in text: rs706778
PubMed Link: 27331016
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pharmacogenetics and interstitial lung disease.

Current Opinion In Pulmonary Medicine
Oldham, Justin M JM; Noth, Imre I; Martinez, Fernando J FJ
Publication Date: 2016-09

Variant appearance in text: rs706778
PubMed Link: 27253772
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress and challenges for treating Type 1 diabetes.

Journal Of Autoimmunity
Garyu, Justin W JW; Meffre, Eric E; Cotsapas, Chris C; Herold, Kevan C KC
Publication Date: 2016-07

Variant appearance in text: rs706778
PubMed Link: 27210268
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin.

Frontiers In Endocrinology
Lombardi, Angela A; Menconi, Francesca F; Greenberg, David D; Concepcion, Erlinda E; Leo, Marenza M; Rocchi, Roberto R; Marinó, Michele M; Keddache, Mehdi M; Tomer, Yaron Y
Publication Date: 2016

Variant appearance in text: rs706778
PubMed Link: 27014188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis.

Journal Of Advanced Research
Saad, Mohamed N MN; Mabrouk, Mai S MS; Eldeib, Ayman M AM; Shaker, Olfat G OG
Publication Date: 2016-01

Variant appearance in text: rs706778
PubMed Link: 26843965
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism
Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN
Publication Date: 2015-09

Variant appearance in text: rs706778
PubMed Link: 26413465
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Nature Medicine
Li, Yun R YR; Li, Jin J; Zhao, Sihai D SD; Bradfield, Jonathan P JP; Mentch, Frank D FD; Maggadottir, S Melkorka SM; Hou, Cuiping C; Abrams, Debra J DJ; Chang, Diana D; Gao, Feng F; Guo, Yiran Y; Wei, Zhi Z; Connolly, John J JJ; Cardinale, Christopher J CJ; Bakay, Marina M; Glessner, Joseph T JT; Li, Dong D; Kao, Charlly C; Thomas, Kelly A KA; Qiu, Haijun H; Chiavacci, Rosetta M RM; Kim, Cecilia E CE; Wang, Fengxiang F; Snyder, James J; Richie, Marylyn D MD; Flatø, Berit B; Førre, Øystein Ø; Denson, Lee A LA; Thompson, Susan D SD; Becker, Mara L ML; Guthery, Stephen L SL; Latiano, Anna A; Perez, Elena E; Resnick, Elena E; Russell, Richard K RK; Wilson, David C DC; Silverberg, Mark S MS; Annese, Vito V; Lie, Benedicte A BA; Punaro, Marilynn M; Dubinsky, Marla C MC; Monos, Dimitri S DS; Strisciuglio, Caterina C; Staiano, Annamaria A; Miele, Erasmo E; Kugathasan, Subra S; Ellis, Justine A JA; Munro, Jane E JE; Sullivan, Kathleen E KE; Wise, Carol A CA; Chapel, Helen H; Cunningham-Rundles, Charlotte C; Grant, Struan F A SF; Orange, Jordan S JS; Sleiman, Patrick M A PM; Behrens, Edward M EM; Griffiths, Anne M AM; Satsangi, Jack J; Finkel, Terri H TH; Keinan, Alon A; Prak, Eline T Luning ET; Polychronakos, Constantin C; Baldassano, Robert N RN; Li, Hongzhe H; Keating, Brendan J BJ; Hakonarson, Hakon H
Publication Date: 2015-09

Variant appearance in text: rs706778
PubMed Link: 26301688
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of common polymorphisms in the IL2RA gene with type 1 diabetes: evidence of 32,646 individuals from 10 independent studies.

Journal Of Cellular And Molecular Medicine
Tang, Wei W; Cui, Dai D; Jiang, Lin L; Zhao, Lijuan L; Qian, Wei W; Long, Sarah Alice SA; Xu, Kuanfeng K
Publication Date: 2015-10

Variant appearance in text: rs706778
PubMed Link: 26249556
Variant Present in the following documents:
  • Main text
View BVdb publication page



The influence of the CHIEF pathway on colorectal cancer-specific mortality.

Plos One
Slattery, Martha L ML; Lundgreen, Abbie A
Publication Date: 2014

Variant appearance in text: rs706778
PubMed Link: 25541970
Variant Present in the following documents:
  • Main text
  • pone.0116169.pdf
View BVdb publication page



Genetic variants in interleukin genes are associated with breast cancer risk and survival in a genetically admixed population: the Breast Cancer Health Disparities Study.

Carcinogenesis
Slattery, Martha L ML; Herrick, Jennifer S JS; Torres-Mejia, Gabriella G; John, Esther M EM; Giuliano, Anna R AR; Hines, Lisa M LM; Stern, Mariana C MC; Baumgartner, Kathy B KB; Presson, Angela P AP; Wolff, Roger K RK
Publication Date: 2014-08

Variant appearance in text: rs706778
PubMed Link: 24670917
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs706778
PubMed Link: 24390342
Variant Present in the following documents:
  • NIHMS539022-supplement-2.pdf
View BVdb publication page



Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits.

Genome Research
Corradin, Olivia O; Saiakhova, Alina A; Akhtar-Zaidi, Batool B; Myeroff, Lois L; Willis, Joseph J; Cowper-Sal lari, Richard R; Lupien, Mathieu M; Markowitz, Sanford S; Scacheri, Peter C PC
Publication Date: 2014-01

Variant appearance in text: rs706778
PubMed Link: 24196873
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking.

Plos Genetics
Scott, Ian C IC; Seegobin, Seth D SD; Steer, Sophia S; Tan, Rachael R; Forabosco, Paola P; Hinks, Anne A; Eyre, Stephen S; Morgan, Ann W AW; Wilson, Anthony G AG; Hocking, Lynne J LJ; Wordsworth, Paul P; Barton, Anne A; Worthington, Jane J; Cope, Andrew P AP; Lewis, Cathryn M CM
Publication Date: 2013

Variant appearance in text: rs706778
PubMed Link: 24068971
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs706778
PubMed Link: 23840476
Variant Present in the following documents:
  • Main text
View BVdb publication page



Independent replication analysis of genetic loci with previous evidence of association with juvenile idiopathic arthritis.

Pediatric Rheumatology Online Journal
Ellis, Justine A JA; Chavez, Raul A RA; Pezic, Angela A; Ponsonby, Anne-Louise AL; Akikusa, Jonathan D JD; Allen, Roger C RC; Munro, Jane E JE
Publication Date: 2013-03-18

Variant appearance in text: rs706778
PubMed Link: 23506417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs706778
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
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: rs706778
PubMed Link: 22661644
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.

Arthritis And Rheumatism
Chung, Sharon A SA; Xie, Gang G; Roshandel, Delnaz D; Sherva, Richard R; Edberg, Jeffrey C JC; Kravitz, Megan M; Dellaripa, Paul F PF; Hoffman, Gary S GS; Mahr, Alfred D AD; Seo, Philip P; Specks, Ulrich U; Spiera, Robert F RF; St Clair, E William EW; Stone, John H JH; Plenge, Robert M RM; Siminovitch, Katherine A KA; Merkel, Peter A PA; Monach, Paul A PA
Publication Date: 2012-10

Variant appearance in text: rs706778
PubMed Link: 22508400
Variant Present in the following documents:
  • Main text
View BVdb publication page



Compensatory T-cell regulation in unaffected relatives of SLE patients, and opposite IL-2/CD25-mediated effects suggested by coreferentiality modeling.

Plos One
Fesel, Constantin C; Barreto, Marta M; Ferreira, Ricardo C RC; Costa, Nuno N; Venda, Lara L LL; Pereira, Clara C; Carvalho, Claudia C; Morães-Fontes, Maria Francisca MF; Ferreira, Carlos M CM; Vasconcelos, Carlos C; Viana, João F JF; Santos, Eugenia E; Martins, Berta B; Demengeot, Jocelyne J; Vicente, Astrid M AM
Publication Date: 2012

Variant appearance in text: rs706778
PubMed Link: 22479496
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

Annals Of The Rheumatic Diseases
Bowes, John J; Ho, Pauline P; Flynn, Edward E; Ali, Faisal F; Marzo-Ortega, Helena H; Coates, Laura C LC; Warren, Richard B RB; McManus, Ross R; Ryan, Anthony W AW; Kane, David D; Korendowych, Eleanor E; McHugh, Neil N; FitzGerald, Oliver O; Packham, Jonathon J; Morgan, Ann W AW; Bruce, Ian N IN; Barton, Anne A
Publication Date: 2012-08

Variant appearance in text: rs706778
PubMed Link: 22328738
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap.

Annals Of The Rheumatic Diseases
Hinks, Anne A; Cobb, Joanna J; Sudman, Marc M; Eyre, Stephen S; Martin, Paul P; Flynn, Edward E; Packham, Jonathon J; , ; , ; , ; Barton, Anne A; Worthington, Jane J; Langefeld, Carl D CD; Glass, David N DN; Thompson, Susan D SD; Thomson, Wendy W
Publication Date: 2012-07

Variant appearance in text: rs706778
PubMed Link: 22294642
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic factors of autoimmune thyroid diseases in Japanese.

Autoimmune Diseases
Ban, Yoshiyuki Y
Publication Date: 2012

Variant appearance in text: rs706778
PubMed Link: 22242199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cytokine gene polymorphisms and human autoimmune disease in the era of genome-wide association studies.

Journal Of Interferon & Cytokine Research : The Official Journal Of The International Society For Interferon And Cytokine Research
Vandenbroeck, Koen K
Publication Date: 2012-04

Variant appearance in text: rs706778
PubMed Link: 22191464
Variant Present in the following documents:
  • Main text
View BVdb publication page



A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis.

Plos One
Nakaoka, Hirofumi H; Cui, Tailin T; Tajima, Atsushi A; Oka, Akira A; Mitsunaga, Shigeki S; Kashiwase, Koichi K; Homma, Yasuhiko Y; Sato, Shinji S; Suzuki, Yasuo Y; Inoko, Hidetoshi H; Inoue, Ituro I
Publication Date: 2011

Variant appearance in text: rs706778
PubMed Link: 21980439
Variant Present in the following documents:
  • pone.0025389.pdf
View BVdb publication page