IL1RL1 c.233C>A ;(p.A78E)

Variant ID: 2-102955468-C-A

NM_016232.4(IL1RL1):c.233C>A;(p.A78E)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


Association of interleukin-10 rs1800896, rs1800872, and interleukin-6 rs1800795 polymorphisms with squamous cell carcinoma risk: A meta-analysis.

Open Life Sciences
Wei, Zhenxia Z; Su, Xiaoping X; Hu, Qiurui Q; Huang, Yonghui Y; Li, Cuiping C; Huang, Xuanping X
Publication Date: 2023

Variant appearance in text: rs1041973
PubMed Link: 37077342
Variant Present in the following documents:
  • biol-2022-0580.pdf
View BVdb publication page



The survival rate of laryngeal squamous cell carcinoma: impact of IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, BLK rs13277113, and TIMP3 rs9621532 single nucleotide polymorphisms.

Discover. Oncology
Pasvenskaite, Agne A; Liutkeviciene, Rasa R; Gedvilaite, Greta G; Vilkeviciute, Alvita A; Liutkevicius, Vykintas V; Uloza, Virgilijus V
Publication Date: 2023-01-22

Variant appearance in text: rs1041973
PubMed Link: 36682035
Variant Present in the following documents:
  • Main text
  • 12672_2023_Article_619.pdf
View BVdb publication page



Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.

Nature Communications
Saarentaus, Elmo C EC; Karjalainen, Juha J; Rämö, Joel T JT; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Mehtonen, Juha J; Hautakangas, Heidi H; Ruotsalainen, Sanni S; Tamlander, Max M; Mars, Nina N; , ; Toppila-Salmi, Sanna S; Pirinen, Matti M; Kurki, Mitja M; Ripatti, Samuli S; Daly, Mark M; Palotie, Tuula T; Mäkitie, Antti A; Palotie, Aarno A
Publication Date: 2023-01-18

Variant appearance in text: rs1041973
PubMed Link: 36653354
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_33626.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: rs1041973
PubMed Link: 36632298
Variant Present in the following documents:
  • rpor-27-6-1058.pdf
View BVdb publication page



Exome variants associated with asthma and allergy.

Scientific Reports
Wjst, Matthias M
Publication Date: 2022-12-05

Variant appearance in text: IL1RL1: 233C>A
PubMed Link: 36470944
Variant Present in the following documents:
  • 41598_2022_24960_MOESM1_ESM.pdf
View BVdb publication page



The Genetic Factors of the Airway Epithelium Associated with the Pathology of Asthma.

Genes
Ranjbar, Maral M; Whetstone, Christiane E CE; Omer, Hafsa H; Power, Lucy L; Cusack, Ruth P RP; Gauvreau, Gail M GM
Publication Date: 2022-10-15

Variant appearance in text: rs1041973
PubMed Link: 36292755
Variant Present in the following documents:
  • genes-13-01870.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: IL1RL1: A78E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
View BVdb publication page



Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Plos Neglected Tropical Diseases
Fava, Vinicius M VM; Dallmann-Sauer, Monica M; Orlova, Marianna M; Correa-Macedo, Wilian W; Van Thuc, Nguyen N; Thai, Vu Hong VH; Alcaïs, Alexandre A; Abel, Laurent L; Cobat, Aurélie A; Schurr, Erwin E
Publication Date: 2021-12-08

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 34879060
Variant Present in the following documents:
  • pntd.0010029.s004.xlsx, sheet 1
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: IL1RL1: A78E
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



ABCA1 rs1883025 and CYP4F2 rs2108622 Gene Polymorphism Association with Age-Related Macular Degeneration and Anti-VEGF Treatment.

Medicina (Kaunas, Lithuania)
Mockute, Ruta R; Vilkeviciute, Alvita A; Balciuniene, Vilma Jurate VJ; Zemaitiene, Reda R; Liutkeviciene, Rasa R
Publication Date: 2021-09-16

Variant appearance in text: rs1041973
PubMed Link: 34577897
Variant Present in the following documents:
  • Main text
  • medicina-57-00974.pdf
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: IL1RL1: A78E; rs1041973
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: IL1RL1: A78E; rs1041973
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



IL-1RL1a serum levels and IL1RL1 SNPs in the prediction of food allergy.

Clinical And Experimental Allergy : Journal Of The British Society For Allergy And Clinical Immunology
Ketelaar, Maria E ME; Westerlaken-van Ginkel, C Doriene CD; Nawijn, Martijn C MC; Ej Dubois, Antony A; Koppelman, Gerard H GH
Publication Date: 2021-04

Variant appearance in text: rs1041973
PubMed Link: 33278838
Variant Present in the following documents:
  • Main text
  • CEA-51-614.pdf
View BVdb publication page



Gene regulatory networks controlling vertebrate retinal regeneration.

Science (New York, N.Y.)
Hoang, Thanh T; Wang, Jie J; Boyd, Patrick P; Wang, Fang F; Santiago, Clayton C; Jiang, Lizhi L; Yoo, Sooyeon S; Lahne, Manuela M; Todd, Levi J LJ; Jia, Meng M; Saez, Cristian C; Keuthan, Casey C; Palazzo, Isabella I; Squires, Natalie N; Campbell, Warren A WA; Rajaii, Fatemeh F; Parayil, Trisha T; Trinh, Vickie V; Kim, Dong Won DW; Wang, Guohua G; Campbell, Leah J LJ; Ash, John J; Fischer, Andy J AJ; Hyde, David R DR; Qian, Jiang J; Blackshaw, Seth S
Publication Date: 2020-11-20

Variant appearance in text: ST2: A78E
PubMed Link: 33004674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between MyD88, TIRAP and IL1RL1 against Helicobacter pylori infection.

Scientific Reports
Fulgione, Andrea A; Papaianni, Marina M; Cuomo, Paola P; Paris, Debora D; Romano, Marco M; Tuccillo, Concetta C; Palomba, Letizia L; Medaglia, Chiara C; De Seta, Massimiliano M; Esposito, Nicolino N; Motta, Andrea A; Iannelli, Antonio A; Iannelli, Domenico D; Capparelli, Rosanna R
Publication Date: 2020-09-28

Variant appearance in text: rs1041973
PubMed Link: 32985578
Variant Present in the following documents:
  • 41598_2020_72974_MOESM1_ESM.pdf
View BVdb publication page



The Role of SNPs in IL1RL1 and IL1RAP Genes in Age-related Macular Degeneration Development and Treatment Efficacy.

In Vivo (Athens, Greece)
Vilkeviciute, Alvita A; Bastikaityte, Neringa N; Mockute, Ruta R; Cebatoriene, Dzastina D; Kriauciuniene, Loresa L; Balciuniene, Jurate J; Zemaitiene, Reda R; Liutkeviciene, Rasa R
Publication Date: 2020

Variant appearance in text: rs1041973
PubMed Link: 32871771
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium.

Jci Insight
Portelli, Michael A MA; Dijk, F Nicole FN; Ketelaar, Maria E ME; Shrine, Nick N; Hankinson, Jenny J; Bhaker, Sangita S; Grotenboer, Néomi S NS; Obeidat, Ma'en M; Henry, Amanda P AP; Billington, Charlotte K CK; Shaw, Dominick D; Johnson, Simon R SR; Pogson, Zara Ek ZE; Fogarty, Andrew A; McKeever, Tricia M TM; Nickle, David C DC; Bossé, Yohan Y; van den Berge, Maarten M; Faiz, Alen A; Brouwer, Sharon S; Vonk, Judith M JM; de Vos, Paul P; Brandsma, Corry-Anke CA; Vermeulen, Cornelis J CJ; Singapuri, Amisha A; Heaney, Liam G LG; Mansur, Adel H AH; Chaudhuri, Rekha R; Thomson, Neil C NC; Holloway, John W JW; Lockett, Gabrielle A GA; Howarth, Peter H PH; Niven, Robert R; Simpson, Angela A; Blakey, John D JD; Tobin, Martin D MD; Postma, Dirkje S DS; Hall, Ian P IP; Wain, Louise V LV; Nawijn, Martijn C MC; Brightling, Christopher E CE; Koppelman, Gerard H GH; Sayers, Ian I
Publication Date: 2020-04-23

Variant appearance in text: rs1041973
PubMed Link: 32324168
Variant Present in the following documents:
  • Main text
  • jciinsight-5-132446-s011.pdf
View BVdb publication page



Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief
Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP
Publication Date: 2020-02

Variant appearance in text: rs1041973
PubMed Link: 31872004
Variant Present in the following documents:
  • Main text
View BVdb publication page



IL1RL1 gene variations are associated with asthma exacerbations in children and adolescents using inhaled corticosteroids.

Allergy
Dijk, F Nicole FN; Vijverberg, Susanne J SJ; Hernandez-Pacheco, Natalia N; Repnik, Katja K; Karimi, Leila L; Mitratza, Marianna M; Farzan, Niloufar N; Nawijn, Martijn C MC; Burchard, Esteban G EG; Engelkes, Marjolein M; Verhamme, Katia M KM; Potočnik, Uroš U; Pino-Yanes, Maria M; Postma, Dirkje S DS; Maitland-van der Zee, Anke-Hilse AH; Koppelman, Gerard H GH
Publication Date: 2020-04

Variant appearance in text: rs1041973
PubMed Link: 31755552
Variant Present in the following documents:
  • Main text
  • ALL-75-984.pdf
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: IL1RL1: A78E; rs1041973
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Association of IL1RL1 rs3771180 and TSLP rs1837253 variants with asthma in the Guangxi Zhuang population in China.

Journal Of Clinical Laboratory Analysis
Sun, Yan Y; Wei, Xuan X; Deng, Jingmin J; Zhang, Jianquan J; He, Zhiyi Z; Yang, Meiling M; Liang, Siqiao S; Chen, Zhangrong Z; Qin, Huajiao H
Publication Date: 2019-07

Variant appearance in text: rs1041973
PubMed Link: 31066119
Variant Present in the following documents:
  • Main text
  • JCLA-33-e22905.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1041973
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



New Cytokines in the Pathogenesis of Atopic Dermatitis-New Therapeutic Targets.

International Journal Of Molecular Sciences
Klonowska, Jolanta J; Gleń, Jolanta J; Nowicki, Roman J RJ; Trzeciak, Magdalena M
Publication Date: 2018-10-09

Variant appearance in text: rs1041973
PubMed Link: 30304837
Variant Present in the following documents:
  • Main text
  • ijms-19-03086.pdf
View BVdb publication page



Association of ST2 polymorphisms with atopy, asthma, and leukemia.

The Journal Of Allergy And Clinical Immunology
Bloodworth, Melissa H MH; Rusznak, Mark M; Bastarache, Lisa L; Wang, Janey J; Denny, Joshua C JC; Peebles, R Stokes RS
Publication Date: 2018-09

Variant appearance in text: rs1041973
PubMed Link: 29787780
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.

Plos Genetics
Smith, Dirk D; Helgason, Hannes H; Sulem, Patrick P; Bjornsdottir, Unnur Steina US; Lim, Ai Ching AC; Sveinbjornsson, Gardar G; Hasegawa, Haruki H; Brown, Michael M; Ketchem, Randal R RR; Gavala, Monica M; Garrett, Logan L; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Asgeir A; Magnusson, Olafur T OT; Eyjolfsson, Gudmundur I GI; Olafsson, Isleifur I; Onundarson, Pall Torfi PT; Sigurdardottir, Olof O; Gislason, David D; Gislason, Thorarinn T; Ludviksson, Bjorn Runar BR; Ludviksdottir, Dora D; Boezen, H Marike HM; Heinzmann, Andrea A; Krueger, Marcus M; Porsbjerg, Celeste C; Ahluwalia, Tarunveer S TS; Waage, Johannes J; Backer, Vibeke V; Deichmann, Klaus A KA; Koppelman, Gerard H GH; Bønnelykke, Klaus K; Bisgaard, Hans H; Masson, Gisli G; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Johnston, James A JA; Jonsdottir, Ingileif I; Stefansson, Kari K
Publication Date: 2017-03

Variant appearance in text: ST2: Ala78Glu; rs1041973
PubMed Link: 28273074
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of ST2 and ST2 genetic variants in schistosomiasis.

The Journal Of Allergy And Clinical Immunology
Long, Xin X; Daya, Michelle M; Zhao, Jianping J; Rafaels, Nicholas N; Liang, Huifang H; Potee, Joseph J; Campbell, Monica M; Zhang, Bixiang B; Araujo, Maria Ilma MI; Oliveira, Ricardo R RR; Mathias, Rasika A RA; Gao, Li L; Ruczinski, Ingo I; Georas, Steve N SN; Vercelli, Donata D; Beaty, Terri H TH; Barnes, Kathleen C KC; Chen, Xiaoping X; Chen, Qian Q
Publication Date: 2017-11

Variant appearance in text: rs1041973
PubMed Link: 28189770
Variant Present in the following documents:
  • Main text
View BVdb publication page



A functional variant in ST2 gene is associated with risk of hypertension via interfering MiR-202-3p.

Journal Of Cellular And Molecular Medicine
Wu, Fangqin F; Li, Lu L; Wen, Qiang Q; Yang, Jinhua J; Chen, Zhuyue Z; Wu, Peng P; He, Meian M; Zhang, Xiaomin X; Wu, Tangchun T; Cheng, Longxian L
Publication Date: 2017-07

Variant appearance in text: rs1041973
PubMed Link: 28121058
Variant Present in the following documents:
  • Main text
  • JCMM-21-1292.pdf
View BVdb publication page



IL1RL1 asthma risk variants regulate airway type 2 inflammation.

Jci Insight
Gordon, Erin D ED; Palandra, Joe J; Wesolowska-Andersen, Agata A; Ringel, Lando L; Rios, Cydney L CL; Lachowicz-Scroggins, Marrah E ME; Sharp, Louis Z LZ; Everman, Jamie L JL; MacLeod, Hannah J HJ; Lee, Jae W JW; Mason, Robert J RJ; Matthay, Michael A MA; Sheldon, Richard T RT; Peters, Michael C MC; Nocka, Karl H KH; Fahy, John V JV; Seibold, Max A MA
Publication Date: 2016-09-08

Variant appearance in text: rs1041973
PubMed Link: 27699235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
  • NIHMS780506-supplement-6.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1041973
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Associations between variants in IL-33/ST2 signaling pathway genes and coronary heart disease risk.

International Journal Of Molecular Sciences
Wu, Fangqin F; He, Mei'an M; Wen, Qiang Q; Zhang, Wencai W; Yang, Jinhua J; Zhang, Xiaomin X; Wu, Tangchun T; Cheng, Longxian L
Publication Date: 2014-12-15

Variant appearance in text: rs1041973
PubMed Link: 25517029
Variant Present in the following documents:
  • Main text
  • ijms-15-23227.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Phenotypic and genotypic association of epithelial IL1RL1 to human TH2-like asthma.

The Journal Of Allergy And Clinical Immunology
Traister, Russell S RS; Uvalle, Crystal E CE; Hawkins, Gregory A GA; Meyers, Deborah A DA; Bleecker, Eugene R ER; Wenzel, Sally E SE
Publication Date: 2015-01

Variant appearance in text: rs1041973
PubMed Link: 25091434
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.

The Journal Of Clinical Investigation
Ho, Jennifer E JE; Chen, Wei-Yu WY; Chen, Ming-Huei MH; Larson, Martin G MG; McCabe, Elizabeth L EL; Cheng, Susan S; Ghorbani, Anahita A; Coglianese, Erin E; Emilsson, Valur V; Johnson, Andrew D AD; Walter, Stefan S; Franceschini, Nora N; O'Donnell, Christopher J CJ; , ; , ; Dehghan, Abbas A; Lu, Chen C; Levy, Daniel D; Newton-Cheh, Christopher C; , ; Lin, Honghuang H; Felix, Janine F JF; Schreiter, Eric R ER; Vasan, Ramachandran S RS; Januzzi, James L JL; Lee, Richard T RT; Wang, Thomas J TJ
Publication Date: 2013-10

Variant appearance in text: IL1RL1: A78E; rs1041973
PubMed Link: 23999434
Variant Present in the following documents:
  • Main text
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1041973
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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IL1RL1 gene variants and nasopharyngeal IL1RL-a levels are associated with severe RSV bronchiolitis: a multicenter cohort study.

Plos One
Faber, Tina E TE; Schuurhof, Annemieke A; Vonk, Annelies A; Koppelman, Gerard H GH; Hennus, Marije P MP; Kimpen, Jan L L JL; Janssen, Riny R; Bont, Louis J LJ
Publication Date: 2012

Variant appearance in text: rs1041973
PubMed Link: 22574108
Variant Present in the following documents:
  • Main text
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Gene-environment interactions of novel variants associated with head and neck cancer.

Head & Neck
Liang, Caihua C; Marsit, Carmen J CJ; Houseman, E Andres EA; Butler, Rondi R; Nelson, Heather H HH; McClean, Michael D MD; Kelsey, Karl T KT
Publication Date: 2012-08

Variant appearance in text: rs1041973
PubMed Link: 22052802
Variant Present in the following documents:
  • Main text
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Genetics of interleukin 1 receptor-like 1 in immune and inflammatory diseases.

Current Genomics
Akhabir, Loubna L; Sandford, Andrew A
Publication Date: 2010-12

Variant appearance in text: rs1041973
PubMed Link: 21629437
Variant Present in the following documents:
  • Main text
  • CG-11-591.pdf
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A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

Plos Genetics
McKay, James D JD; Truong, Therese T; Gaborieau, Valerie V; Chabrier, Amelie A; Chuang, Shu-Chun SC; Byrnes, Graham G; Zaridze, David D; Shangina, Oxana O; Szeszenia-Dabrowska, Neonila N; Lissowska, Jolanta J; Rudnai, Peter P; Fabianova, Eleonora E; Bucur, Alexandru A; Bencko, Vladimir V; Holcatova, Ivana I; Janout, Vladimir V; Foretova, Lenka L; Lagiou, Pagona P; Trichopoulos, Dimitrios D; Benhamou, Simone S; Bouchardy, Christine C; Ahrens, Wolfgang W; Merletti, Franco F; Richiardi, Lorenzo L; Talamini, Renato R; Barzan, Luigi L; Kjaerheim, Kristina K; Macfarlane, Gary J GJ; Macfarlane, Tatiana V TV; Simonato, Lorenzo L; Canova, Cristina C; Agudo, Antonio A; Castellsagué, Xavier X; Lowry, Ray R; Conway, David I DI; McKinney, Patricia A PA; Healy, Claire M CM; Toner, Mary E ME; Znaor, Ariana A; Curado, Maria Paula MP; Koifman, Sergio S; Menezes, Ana A; Wünsch-Filho, Victor V; Neto, José Eluf JE; Garrote, Leticia Fernández LF; Boccia, Stefania S; Cadoni, Gabriella G; Arzani, Dario D; Olshan, Andrew F AF; Weissler, Mark C MC; Funkhouser, William K WK; Luo, Jingchun J; Lubiński, Jan J; Trubicka, Joanna J; Lener, Marcin M; Oszutowska, Dorota D; Schwartz, Stephen M SM; Chen, Chu C; Fish, Sherianne S; Doody, David R DR; Muscat, Joshua E JE; Lazarus, Philip P; Gallagher, Carla J CJ; Chang, Shen-Chih SC; Zhang, Zuo-Feng ZF; Wei, Qingyi Q; Sturgis, Erich M EM; Wang, Li-E LE; Franceschi, Silvia S; Herrero, Rolando R; Kelsey, Karl T KT; McClean, Michael D MD; Marsit, Carmen J CJ; Nelson, Heather H HH; Romkes, Marjorie M; Buch, Shama S; Nukui, Tomoko T; Zhong, Shilong S; Lacko, Martin M; Manni, Johannes J JJ; Peters, Wilbert H M WH; Hung, Rayjean J RJ; McLaughlin, John J; Vatten, Lars L; Njølstad, Inger I; Goodman, Gary E GE; Field, John K JK; Liloglou, Triantafillos T; Vineis, Paolo P; Clavel-Chapelon, Francoise F; Palli, Domenico D; Tumino, Rosario R; Krogh, Vittorio V; Panico, Salvatore S; González, Carlos A CA; Quirós, J Ramón JR; Martínez, Carmen C; Navarro, Carmen C; Ardanaz, Eva E; Larrañaga, Nerea N; Khaw, Kay-Tee KT; Key, Timothy T; Bueno-de-Mesquita, H Bas HB; Peeters, Petra H M PH; Trichopoulou, Antonia A; Linseisen, Jakob J; Boeing, Heiner H; Hallmans, Göran G; Overvad, Kim K; Tjønneland, Anne A; Kumle, Merethe M; Riboli, Elio E; Välk, Kristjan K; Vooder, Tõnu T; Voodern, Tõnu T; Metspalu, Andres A; Zelenika, Diana D; Boland, Anne A; Delepine, Marc M; Foglio, Mario M; Lechner, Doris D; Blanché, Hélène H; Gut, Ivo G IG; Galan, Pilar P; Heath, Simon S; Hashibe, Mia M; Hayes, Richard B RB; Boffetta, Paolo P; Lathrop, Mark M; Brennan, Paul P
Publication Date: 2011-03

Variant appearance in text: rs1041973
PubMed Link: 21437268
Variant Present in the following documents:
  • Main text
  • pgen.1001333.pdf
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Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.

Bmc Medical Genetics
Näkki, Annu A; Kouhia, Sanna T ST; Saarela, Janna J; Harilainen, Arsi A; Tallroth, Kaj K; Videman, Tapio T; Battié, Michele C MC; Kaprio, Jaakko J; Peltonen, Leena L; Kujala, Urho M UM
Publication Date: 2010-03-30

Variant appearance in text: rs1041973
PubMed Link: 20353565
Variant Present in the following documents:
  • Main text
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Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans.

The Journal Of Allergy And Clinical Immunology
Wu, Hao H; Romieu, Isabelle I; Shi, Min M; Hancock, Dana B DB; Li, Huiling H; Sienra-Monge, Juan-Jose JJ; Chiu, Grace Y GY; Xu, Hong H; del Rio-Navarro, Blanca Estela BE; London, Stephanie J SJ
Publication Date: 2010-02

Variant appearance in text: rs1041973
PubMed Link: 19910030
Variant Present in the following documents:
  • Main text
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Asthma and genes encoding components of the vitamin D pathway.

Respiratory Research
Bossé, Yohan Y; Lemire, Mathieu M; Poon, Audrey H AH; Daley, Denise D; He, Jian-Qing JQ; Sandford, Andrew A; White, John H JH; James, Alan L AL; Musk, Arthur William AW; Palmer, Lyle J LJ; Raby, Benjamin A BA; Weiss, Scott T ST; Kozyrskyj, Anita L AL; Becker, Allan A; Hudson, Thomas J TJ; Laprise, Catherine C
Publication Date: 2009-10-24

Variant appearance in text: rs1041973
PubMed Link: 19852851
Variant Present in the following documents:
  • Main text
  • 1465-9921-10-98.pdf
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