IL2RA c.64+2338A>T

Variant ID: 10-6101713-T-A

NM_000417.2(IL2RA):c.64+2338A>T

This variant was identified in 58 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3118470
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The IL-2 - IL-2 receptor pathway: Key to understanding multiple sclerosis.

Journal Of Translational Autoimmunity
Peerlings, Daphne D; Mimpen, Max M; Damoiseaux, Jan J
Publication Date: 2021

Variant appearance in text: rs3118470
PubMed Link: 35005590
Variant Present in the following documents:
  • Main text
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: rs3118470
PubMed Link: 34993154
Variant Present in the following documents:
  • Main text
  • fonc-11-813802.pdf
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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: rs3118470
PubMed Link: 34735462
Variant Present in the following documents:
  • Main text
  • pone.0258499.pdf
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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: rs3118470
PubMed Link: 34735462
Variant Present in the following documents:
  • Main text
  • pone.0258499.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: rs3118470
PubMed Link: 33658892
Variant Present in the following documents:
  • Main text
  • CEJI-45-43203.pdf
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Prediction for Intravenous Immunoglobulin Resistance Combining Genetic Risk Loci Identified From Next Generation Sequencing and Laboratory Data in Kawasaki Disease.

Frontiers In Pediatrics
Chen, Liqin L; Song, Sirui S; Ning, Qianqian Q; Zhu, Danying D; Jia, Jia J; Zhang, Han H; Zhao, Jian J; Hao, Shiying S; Liu, Fang F; Chu, Chen C; Huang, Meirong M; Chen, Sun S; Xie, Lijian L; Xiao, Tingting T; Huang, Min M
Publication Date: 2020

Variant appearance in text: rs3118470
PubMed Link: 33344378
Variant Present in the following documents:
  • Main text
  • fped-08-462367.pdf
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Analysis of Single Nucleotide Polymorphisms in HLA-DRA, IL2RA , and HMGB1 Genes in Multiple Sclerosis.

Reports Of Biochemistry & Molecular Biology
Asouri, Mohsen M; Alinejad Rokni, Hamid H; Sahraian, Mohammad Ali MA; Fattahi, Sadegh S; Motamed, Nima N; Doosti, Rozita R; Rahimi, Hamzeh H; Lotfi, Maryam M; Moslemi, Azam A; Karimpoor, Morteza M; Mahboudi, Fereidoun F; Akhavan-Niaki, Haleh H
Publication Date: 2020-07

Variant appearance in text: rs3118470
PubMed Link: 33178870
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of HLA-DRA and IL2RA Polymorphisms with the Severity and Relapses Rate of Multiple Sclerosis in an Iranian Population.

Reports Of Biochemistry & Molecular Biology
Asouri, Mohsen M; Alinejad Rokni, Hamid H; Sahraian, Mohammad Ali MA; Fattahi, Sadegh S; Motamed, Nima N; Doosti, Rozita R; Amirbozorgi, Galia G; Karimpoor, Morteza M; Mahboudi, Fereidoun F; Akhavan-Niaki, Haleh H
Publication Date: 2020-07

Variant appearance in text: rs3118470
PubMed Link: 33178861
Variant Present in the following documents:
  • Main text
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: rs3118470
PubMed Link: 33088637
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights Into Coronary Artery Lesions in Kawasaki Disease.

Frontiers In Pediatrics
Zhang, Danfeng D; Liu, Lingjuan L; Huang, Xupei X; Tian, Jie J
Publication Date: 2020

Variant appearance in text: rs3118470
PubMed Link: 32984207
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: rs3118470
PubMed Link: 32974248
Variant Present in the following documents:
  • Main text
  • fped-08-00481.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: rs3118470
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Feature selection based on differentially correlated gene pairs reveals the mechanism of IFN-β therapy for multiple sclerosis.

Peerj
Jin, Tao T; Wang, Chi C; Tian, Suyan S
Publication Date: 2020

Variant appearance in text: rs3118470
PubMed Link: 32211244
Variant Present in the following documents:
  • Main text
  • peerj-08-8812.pdf
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Kawasaki Disease: Global Burden and Genetic Background.

Cardiology Research
Elakabawi, Karim K; Lin, Jing J; Jiao, Fuyong F; Guo, Ning N; Yuan, Zuyi Z
Publication Date: 2020-02

Variant appearance in text: rs3118470
PubMed Link: 32095191
Variant Present in the following documents:
  • Main text
  • cr-11-009.pdf
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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: rs3118470
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: rs3118470
PubMed Link: 30970177
Variant Present in the following documents:
  • Main text
  • JDI-10-1447.pdf
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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: rs3118470
PubMed Link: 30572963
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_604.pdf
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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: rs3118470
PubMed Link: 30096258
Variant Present in the following documents:
  • Main text
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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: rs3118470
PubMed Link: 28234966
Variant Present in the following documents:
  • Main text
  • pone.0172681.pdf
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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: rs3118470
PubMed Link: 28053319
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Risk Score for Predicting Multiple Sclerosis.

Plos One
Dobson, Ruth R; Ramagopalan, Sreeram S; Topping, Joanne J; Smith, Paul P; Solanky, Bhavana B; Schmierer, Klaus K; Chard, Declan D; Giovannoni, Gavin G
Publication Date: 2016

Variant appearance in text: rs3118470
PubMed Link: 27802296
Variant Present in the following documents:
  • Main text
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Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies.

Neurology. Genetics
George, Michaela F MF; Briggs, Farren B S FB; Shao, Xiaorong X; Gianfrancesco, Milena A MA; Kockum, Ingrid I; Harbo, Hanne F HF; Celius, Elisabeth G EG; Bos, Steffan D SD; Hedström, Anna A; Shen, Ling L; Bernstein, Allan A; Alfredsson, Lars L; Hillert, Jan J; Olsson, Tomas T; Patsopoulos, Nikolaos A NA; De Jager, Philip L PL; Oturai, Annette B AB; Søndergaard, Helle B HB; Sellebjerg, Finn F; Sorensen, Per S PS; Gomez, Refujia R; Caillier, Stacy J SJ; Cree, Bruce A C BA; Oksenberg, Jorge R JR; Hauser, Stephen L SL; D'Alfonso, Sandra S; Leone, Maurizio A MA; Martinelli Boneschi, Filippo F; Sorosina, Melissa M; van der Mei, Ingrid I; Taylor, Bruce V BV; Zhou, Yuan Y; Schaefer, Catherine C; Barcellos, Lisa F LF
Publication Date: 2016-08

Variant appearance in text: rs3118470
PubMed Link: 27540591
Variant Present in the following documents:
  • NG2015001412.pdf
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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: rs3118470
PubMed Link: 27331016
Variant Present in the following documents:
  • Main text
  • main.pdf
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: rs3118470
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: rs3118470
PubMed Link: 27014188
Variant Present in the following documents:
  • Main text
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The multiple sclerosis susceptibility genes TAGAP and IL2RA are regulated by vitamin D in CD4+ T cells.

Genes And Immunity
Berge, T T; Leikfoss, I S IS; Brorson, I S IS; Bos, S D SD; Page, C M CM; Gustavsen, M W MW; Bjølgerud, A A; Holmøy, T T; Celius, E G EG; Damoiseaux, J J; Smolders, J J; Harbo, H F HF; Spurkland, A A
Publication Date: 2016-03

Variant appearance in text: rs3118470
PubMed Link: 26765264
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Interpretation of Genome-Wide Association Study Evidence in Alopecia Areata.

The Journal Of Investigative Dermatology
Petukhova, Lynn L; Christiano, Angela M AM
Publication Date: 2016-01

Variant appearance in text: rs3118470
PubMed Link: 26763452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-Gene Associations with the Susceptibility of Kawasaki Disease and Coronary Artery Lesions.

Plos One
Kuo, Ho-Chang HC; Chang, Jen-Chieh JC; Guo, Mindy Ming-Huey MM; Hsieh, Kai-Sheng KS; Yeter, Deniz D; Li, Sung-Chou SC; Yang, Kuender D KD
Publication Date: 2015

Variant appearance in text: rs3118470
PubMed Link: 26619243
Variant Present in the following documents:
  • Main text
  • pone.0143056.pdf
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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: rs3118470
PubMed Link: 26413465
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: rs3118470
PubMed Link: 26249556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity.

Plos One
Akkad, Denis A DA; Olischewsky, Alexandra A; Reiner, Franziska F; Hellwig, Kerstin K; Esser, Sarika S; Epplen, Jörg T JT; Curk, Tomaz T; Gold, Ralf R; Haghikia, Aiden A
Publication Date: 2015

Variant appearance in text: rs3118470
PubMed Link: 26011527
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.

Nature Communications
Betz, Regina C RC; Petukhova, Lynn L; Ripke, Stephan S; Huang, Hailiang H; Menelaou, Androniki A; Redler, Silke S; Becker, Tim T; Heilmann, Stefanie S; Yamany, Tarek T; Duvic, Madeliene M; Hordinsky, Maria M; Norris, David D; Price, Vera H VH; Mackay-Wiggan, Julian J; de Jong, Annemieke A; DeStefano, Gina M GM; Moebus, Susanne S; Böhm, Markus M; Blume-Peytavi, Ulrike U; Wolff, Hans H; Lutz, Gerhard G; Kruse, Roland R; Bian, Li L; Amos, Christopher I CI; Lee, Annette A; Gregersen, Peter K PK; Blaumeiser, Bettina B; Altshuler, David D; Clynes, Raphael R; de Bakker, Paul I W PIW; Nöthen, Markus M MM; Daly, Mark J MJ; Christiano, Angela M AM
Publication Date: 2015-01-22

Variant appearance in text: rs3118470
PubMed Link: 25608926
Variant Present in the following documents:
  • Main text
  • nihms-645117.pdf
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Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies.

European Journal Of Human Genetics : Ejhg
Dandine-Roulland, Claire C; Perdry, Hervé H
Publication Date: 2015-10

Variant appearance in text: rs3118470
PubMed Link: 25585700
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: rs3118470
PubMed Link: 25541970
Variant Present in the following documents:
  • Main text
View BVdb publication page



A pathway approach to evaluating the association between the CHIEF pathway and risk of colorectal cancer.

Carcinogenesis
Slattery, Martha L ML; Wolff, Roger K RK; Lundgreen, Abbie A
Publication Date: 2015-01

Variant appearance in text: rs3118470
PubMed Link: 25330801
Variant Present in the following documents:
  • Main text
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: rs3118470
PubMed Link: 24670917
Variant Present in the following documents:
  • Main text
View BVdb publication page



No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Human Molecular Genetics
Goris, An A; van Setten, Jessica J; Diekstra, Frank F; Ripke, Stephan S; Patsopoulos, Nikolaos A NA; Sawcer, Stephen J SJ; , ; van Es, Michael M; , ; Andersen, Peter M PM; Melki, Judith J; Meininger, Vincent V; Hardiman, Orla O; Landers, John E JE; Brown, Robert H RH; Shatunov, Aleksey A; Leigh, Nigel N; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Traynor, Bryan J BJ; Chiò, Adriano A; Restagno, Gabriella G; Mora, Gabriele G; Ophoff, Roel A RA; Oksenberg, Jorge R JR; Van Damme, Philip P; Compston, Alastair A; Robberecht, Wim W; Dubois, Bénédicte B; van den Berg, Leonard H LH; De Jager, Philip L PL; Veldink, Jan H JH; de Bakker, Paul I W PI
Publication Date: 2014-04-01

Variant appearance in text: rs3118470
PubMed Link: 24234648
Variant Present in the following documents:
  • Main text
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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: rs3118470
PubMed Link: 24196873
Variant Present in the following documents:
  • Main text
  • 1.pdf
View BVdb publication page



The genetics of multiple sclerosis: review of current and emerging candidates.

The Application Of Clinical Genetics
Muñoz-Culla, Maider M; Irizar, Haritz H; Otaegui, David D
Publication Date: 2013

Variant appearance in text: rs3118470
PubMed Link: 24019748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Different genetic associations of the IgE production among fetus, infancy and childhood.

Plos One
Chang, Jen-Chieh JC; Kuo, Ho-Chang HC; Hsu, Te-Yao TY; Ou, Chia-Yu CY; Liu, Chieh-An CA; Chuang, Hau H; Liang, Hsiu-Mei HM; Huang, Hurng-Wern HW; Yang, Kuender D KD
Publication Date: 2013

Variant appearance in text: rs3118470
PubMed Link: 23936416
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress in multiple sclerosis genetics.

Current Genomics
Goris, An A; Pauwels, Ine I; Dubois, Bénédicte B
Publication Date: 2012-12

Variant appearance in text: rs3118470
PubMed Link: 23730204
Variant Present in the following documents:
  • Main text
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Integrative pathway analysis of genome-wide association studies and gene expression data in prostate cancer.

Bmc Systems Biology
Jia, Peilin P; Liu, Yang Y; Zhao, Zhongming Z
Publication Date: 2012

Variant appearance in text: rs3118470
PubMed Link: 23281744
Variant Present in the following documents:
  • Main text
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Protein-protein interaction analysis highlights additional loci of interest for multiple sclerosis.

Plos One
Ragnedda, Giammario G; Disanto, Giulio G; Giovannoni, Gavin G; Ebers, George C GC; Sotgiu, Stefano S; Ramagopalan, Sreeram V SV
Publication Date: 2012

Variant appearance in text: rs3118470
PubMed Link: 23094030
Variant Present in the following documents:
  • Main text
  • pone.0046730.pdf
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The genetics of multiple sclerosis: an up-to-date review.

Immunological Reviews
Gourraud, Pierre-Antoine PA; Harbo, Hanne F HF; Hauser, Stephen L SL; Baranzini, Sergio E SE
Publication Date: 2012-07

Variant appearance in text: rs3118470
PubMed Link: 22725956
Variant Present in the following documents:
  • Main text
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Genomic regions associated with multiple sclerosis are active in B cells.

Plos One
Disanto, Giulio G; Sandve, Geir Kjetil GK; Berlanga-Taylor, Antonio J AJ; Morahan, Julia M JM; Dobson, Ruth R; Giovannoni, Gavin G; Ramagopalan, Sreeram V SV
Publication Date: 2012

Variant appearance in text: rs3118470
PubMed Link: 22396755
Variant Present in the following documents:
  • Main text
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Genetic factors of autoimmune thyroid diseases in Japanese.

Autoimmune Diseases
Ban, Yoshiyuki Y
Publication Date: 2012

Variant appearance in text: rs3118470
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: rs3118470
PubMed Link: 22191464
Variant Present in the following documents:
  • Main text
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Perspectives on the use of multiple sclerosis risk genes for prediction.

Plos One
Jafari, Naghmeh N; Broer, Linda L; van Duijn, Cornelia M CM; Janssens, A Cecile J W AC; Hintzen, Rogier Q RQ
Publication Date: 2011

Variant appearance in text: rs3118470
PubMed Link: 22164203
Variant Present in the following documents:
  • Main text
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Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.

European Journal Of Human Genetics : Ejhg
Babron, Marie-Claude MC; Perdry, Hervé H; Handel, Adam E AE; Ramagopalan, Sreeram V SV; Damotte, Vincent V; Fontaine, Bertrand B; Müller-Myhsok, Bertram B; Ebers, George C GC; Clerget-Darpoux, Françoise F
Publication Date: 2012-03

Variant appearance in text: rs3118470
PubMed Link: 22085902
Variant Present in the following documents:
  • Main text
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Nature
, ; , ; Sawcer, Stephen S; Hellenthal, Garrett G; Pirinen, Matti M; Spencer, Chris C A CC; Patsopoulos, Nikolaos A NA; Moutsianas, Loukas L; Dilthey, Alexander A; Su, Zhan Z; Freeman, Colin C; Hunt, Sarah E SE; Edkins, Sarah S; Gray, Emma E; Booth, David R DR; Potter, Simon C SC; Goris, An A; Band, Gavin G; Oturai, Annette Bang AB; Strange, Amy A; Saarela, Janna J; Bellenguez, Céline C; Fontaine, Bertrand B; Gillman, Matthew M; Hemmer, Bernhard B; Gwilliam, Rhian R; Zipp, Frauke F; Jayakumar, Alagurevathi A; Martin, Roland R; Leslie, Stephen S; Hawkins, Stanley S; Giannoulatou, Eleni E; D'alfonso, Sandra S; Blackburn, Hannah H; Martinelli Boneschi, Filippo F; Liddle, Jennifer J; Harbo, Hanne F HF; Perez, Marc L ML; Spurkland, Anne A; Waller, Matthew J MJ; Mycko, Marcin P MP; Ricketts, Michelle M; Comabella, Manuel M; Hammond, Naomi N; Kockum, Ingrid I; McCann, Owen T OT; Ban, Maria M; Whittaker, Pamela P; Kemppinen, Anu A; Weston, Paul P; Hawkins, Clive C; Widaa, Sara S; Zajicek, John J; Dronov, Serge S; Robertson, Neil N; Bumpstead, Suzannah J SJ; Barcellos, Lisa F LF; Ravindrarajah, Rathi R; Abraham, Roby R; Alfredsson, Lars L; Ardlie, Kristin K; Aubin, Cristin C; Baker, Amie A; Baker, Katharine K; Baranzini, Sergio E SE; Bergamaschi, Laura L; Bergamaschi, Roberto R; Bernstein, Allan A; Berthele, Achim A; Boggild, Mike M; Bradfield, Jonathan P JP; Brassat, David D; Broadley, Simon A SA; Buck, Dorothea D; Butzkueven, Helmut H; Capra, Ruggero R; Carroll, William M WM; Cavalla, Paola P; Celius, Elisabeth G EG; Cepok, Sabine S; Chiavacci, Rosetta R; Clerget-Darpoux, Françoise F; Clysters, Katleen K; Comi, Giancarlo G; Cossburn, Mark M; Cournu-Rebeix, Isabelle I; Cox, Mathew B MB; Cozen, Wendy W; Cree, Bruce A C BA; Cross, Anne H AH; Cusi, Daniele D; Daly, Mark J MJ; Davis, Emma E; de Bakker, Paul I W PI; Debouverie, Marc M; D'hooghe, Marie Beatrice MB; Dixon, Katherine K; Dobosi, Rita R; Dubois, Bénédicte B; Ellinghaus, David D; Elovaara, Irina I; Esposito, Federica F; Fontenille, Claire C; Foote, Simon S; Franke, Andre A; Galimberti, Daniela D; Ghezzi, Angelo A; Glessner, Joseph J; Gomez, Refujia R; Gout, Olivier O; Graham, Colin C; Grant, Struan F A SF; Guerini, Franca Rosa FR; Hakonarson, Hakon H; Hall, Per P; Hamsten, Anders A; Hartung, Hans-Peter HP; Heard, Rob N RN; Heath, Simon S; Hobart, Jeremy J; Hoshi, Muna M; Infante-Duarte, Carmen C; Ingram, Gillian G; Ingram, Wendy W; Islam, Talat T; Jagodic, Maja M; Kabesch, Michael M; Kermode, Allan G AG; Kilpatrick, Trevor J TJ; Kim, Cecilia C; Klopp, Norman N; Koivisto, Keijo K; Larsson, Malin M; Lathrop, Mark M; Lechner-Scott, Jeannette S JS; Leone, Maurizio A MA; Leppä, Virpi V; Liljedahl, Ulrika U; Bomfim, Izaura Lima IL; Lincoln, Robin R RR; Link, Jenny J; Liu, Jianjun J; Lorentzen, Aslaug R AR; Lupoli, Sara S; Macciardi, Fabio F; Mack, Thomas T; Marriott, Mark M; Martinelli, Vittorio V; Mason, Deborah D; McCauley, Jacob L JL; Mentch, Frank F; Mero, Inger-Lise IL; Mihalova, Tania T; Montalban, Xavier X; Mottershead, John J; Myhr, Kjell-Morten KM; Naldi, Paola P; Ollier, William W; Page, Alison A; Palotie, Aarno A; Pelletier, Jean J; Piccio, Laura L; Pickersgill, Trevor T; Piehl, Fredrik F; Pobywajlo, Susan S; Quach, Hong L HL; Ramsay, Patricia P PP; Reunanen, Mauri M; Reynolds, Richard R; Rioux, John D JD; Rodegher, Mariaemma M; Roesner, Sabine S; Rubio, Justin P JP; Rückert, Ina-Maria IM; Salvetti, Marco M; Salvi, Erika E; Santaniello, Adam A; Schaefer, Catherine A CA; Schreiber, Stefan S; Schulze, Christian C; Scott, Rodney J RJ; Sellebjerg, Finn F; Selmaj, Krzysztof W KW; Sexton, David D; Shen, Ling L; Simms-Acuna, Brigid B; Skidmore, Sheila S; Sleiman, Patrick M A PM; Smestad, Cathrine C; Sørensen, Per Soelberg PS; Søndergaard, Helle Bach HB; Stankovich, Jim J; Strange, Richard C RC; Sulonen, Anna-Maija AM; Sundqvist, Emilie E; Syvänen, Ann-Christine AC; Taddeo, Francesca F; Taylor, Bruce B; Blackwell, Jenefer M JM; Tienari, Pentti P; Bramon, Elvira E; Tourbah, Ayman A; Brown, Matthew A MA; Tronczynska, Ewa E; Casas, Juan P JP; Tubridy, Niall N; Corvin, Aiden A; Vickery, Jane J; Jankowski, Janusz J; Villoslada, Pablo P; Markus, Hugh S HS; Wang, Kai K; Mathew, Christopher G CG; Wason, James J; Palmer, Colin N A CN; Wichmann, H-Erich HE; Plomin, Robert R; Willoughby, Ernest E; Rautanen, Anna A; Winkelmann, Juliane J; Wittig, Michael M; Trembath, Richard C RC; Yaouanq, Jacqueline J; Viswanathan, Ananth C AC; Zhang, Haitao H; Wood, Nicholas W NW; Zuvich, Rebecca R; Deloukas, Panos P; Langford, Cordelia C; Duncanson, Audrey A; Oksenberg, Jorge R JR; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Olsson, Tomas T; Hillert, Jan J; Ivinson, Adrian J AJ; De Jager, Philip L PL; Peltonen, Leena L; Stewart, Graeme J GJ; Hafler, David A DA; Hauser, Stephen L SL; McVean, Gil G; Donnelly, Peter P; Compston, Alastair A
Publication Date: 2011-08-10

Variant appearance in text: rs3118470
PubMed Link: 21833088
Variant Present in the following documents:
  • NIHMS36028-supplement-1.pdf
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Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.

Nature
Petukhova, Lynn L; Duvic, Madeleine M; Hordinsky, Maria M; Norris, David D; Price, Vera V; Shimomura, Yutaka Y; Kim, Hyunmi H; Singh, Pallavi P; Lee, Annette A; Chen, Wei V WV; Meyer, Katja C KC; Paus, Ralf R; Jahoda, Colin A B CA; Amos, Christopher I CI; Gregersen, Peter K PK; Christiano, Angela M AM
Publication Date: 2010-07-01

Variant appearance in text: rs3118470
PubMed Link: 20596022
Variant Present in the following documents:
  • Main text
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Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

Genes And Immunity
Howson, J M M JM; Walker, N M NM; Smyth, D J DJ; Todd, J A JA; ,
Publication Date: 2009-12

Variant appearance in text: rs3118470
PubMed Link: 19956106
Variant Present in the following documents:
  • Main text
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Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs3118470
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
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The type I diabetes association of the IL2RA locus.

Genes And Immunity
Qu, H-Q HQ; Bradfield, J P JP; Bélisle, A A; Grant, S F A SF; Hakonarson, H H; Polychronakos, C C; ,
Publication Date: 2009-12

Variant appearance in text: rs3118470
PubMed Link: 19956099
Variant Present in the following documents:
  • Main text
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Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study.

Diabetes
Pettersen, Elin E; Skorpen, Frank F; Kvaløy, Kirsti K; Midthjell, Kristian K; Grill, Valdemar V
Publication Date: 2010-01

Variant appearance in text: rs3118470
PubMed Link: 19833889
Variant Present in the following documents:
  • Main text
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Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.

Diabetes
Grant, Struan F A SF; Qu, Hui-Qi HQ; Bradfield, Jonathan P JP; Marchand, Luc L; Kim, Cecilia E CE; Glessner, Joseph T JT; Grabs, Rosemarie R; Taback, Shayne P SP; Frackelton, Edward C EC; Eckert, Andrew W AW; Annaiah, Kiran K; Lawson, Margaret L ML; Otieno, F George FG; Santa, Erin E; Shaner, Julie L JL; Smith, Ryan M RM; Skraban, Robert R; Imielinski, Marcin M; Chiavacci, Rosetta M RM; Grundmeier, Robert W RW; Stanley, Charles A CA; Kirsch, Susan E SE; Waggott, Daryl D; Paterson, Andrew D AD; Monos, Dimitri S DS; , ; Polychronakos, Constantin C; Hakonarson, Hakon H
Publication Date: 2009-01

Variant appearance in text: rs3118470
PubMed Link: 18840781
Variant Present in the following documents:
  • Main text
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Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.

Endocrine Reviews
Huber, Amanda A; Menconi, Francesca F; Corathers, Sarah S; Jacobson, Eric M EM; Tomer, Yaron Y
Publication Date: 2008-10

Variant appearance in text: rs3118470
PubMed Link: 18776148
Variant Present in the following documents:
  • Main text
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Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

Diabetes
Butty, Vincent V; Campbell, Christopher C; Mathis, Diane D; Benoist, Christophe C; ,
Publication Date: 2008-09

Variant appearance in text: rs3118470
PubMed Link: 18556337
Variant Present in the following documents:
  • Main text
  • 2348.pdf
View BVdb publication page