IL6R c.808-105T>G

Variant ID: 1-154408340-T-G

NM_000565.3(IL6R):c.808-105T>G

This variant was identified in 17 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: rs4845371
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs4845371
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Cumulative Evidence for Associations Between Genetic Variants in Interleukin 6 Receptor Gene and Human Diseases and Phenotypes.

Frontiers In Immunology
Zhang, Min M; Bai, Ye Y; Wang, Yutong Y; Cui, Huijie H; Tang, Mingshuang M; Wang, Lanbing L; Wang, Xin X; Gu, Dongqing D
Publication Date: 2022

Variant appearance in text: rs4845371
PubMed Link: 35493452
Variant Present in the following documents:
  • Main text
  • fimmu-13-860703.pdf
View BVdb publication page



Inflammation and Brain Structure in Schizophrenia and Other Neuropsychiatric Disorders: A Mendelian Randomization Study.

Jama Psychiatry
Williams, John A JA; Burgess, Stephen S; Suckling, John J; Lalousis, Paris Alexandros PA; Batool, Fatima F; Griffiths, Sian Lowri SL; Palmer, Edward E; Karwath, Andreas A; Barsky, Andrey A; Gkoutos, Georgios V GV; Wood, Stephen S; Barnes, Nicholas M NM; David, Anthony S AS; Donohoe, Gary G; Neill, Joanna C JC; Deakin, Bill B; Khandaker, Golam M GM; Upthegrove, Rachel R; ,
Publication Date: 2022-05-01

Variant appearance in text: rs4845371
PubMed Link: 35353173
Variant Present in the following documents:
  • jamapsychiatry-e220407-s001.pdf
View BVdb publication page



Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.

Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
Publication Date: 2021-02-02

Variant appearance in text: rs4845371
PubMed Link: 33095540
Variant Present in the following documents:
  • aids-35-193-s003.xlsx, sheet 1
View BVdb publication page



Dissecting the Association Between Inflammation, Metabolic Dysregulation, and Specific Depressive Symptoms: A Genetic Correlation and 2-Sample Mendelian Randomization Study.

Jama Psychiatry
Kappelmann, Nils N; Arloth, Janine J; Georgakis, Marios K MK; Czamara, Darina D; Rost, Nicolas N; Ligthart, Symen S; Khandaker, Golam M GM; Binder, Elisabeth B EB
Publication Date: 2021-02-01

Variant appearance in text: rs4845371
PubMed Link: 33079133
Variant Present in the following documents:
  • jamapsychiatry-e203436-s001.pdf
View BVdb publication page



Investigating evidence for a causal association between inflammation and self-harm: A multivariable Mendelian Randomisation study.

Brain, Behavior, And Immunity
Russell, Abigail Emma AE; Ford, Tamsin T; Gunnell, David D; Heron, Jon J; Joinson, Carol C; Moran, Paul P; Relton, Caroline C; Suderman, Matthew M; Hemani, Gibran G; Mars, Becky B
Publication Date: 2020-10

Variant appearance in text: rs4845371
PubMed Link: 32473944
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systemic inflammation and causal risk for Alzheimer's dementia: Possibilities and limitations of a Mendelian randomization approach.

Aging Medicine (Milton (N.S.W))
Tsui, Alex A; Davis, Daniel D
Publication Date: 2018-12

Variant appearance in text: rs4845371
PubMed Link: 31328178
Variant Present in the following documents:
  • Main text
  • AGM2-1-249.pdf
View BVdb publication page



Shared mechanisms between coronary heart disease and depression: findings from a large UK general population-based cohort.

Molecular Psychiatry
Khandaker, Golam M GM; Zuber, Verena V; Rees, Jessica M B JMB; Carvalho, Livia L; Mason, Amy M AM; Foley, Christopher N CN; Gkatzionis, Apostolos A; Jones, Peter B PB; Burgess, Stephen S
Publication Date: 2020-07

Variant appearance in text: rs4845371
PubMed Link: 30886334
Variant Present in the following documents:
  • Main text
  • 41380_2019_Article_395.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs4845371
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4845371
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

Plos Genetics
Kauwe, John S K JS; Bailey, Matthew H MH; Ridge, Perry G PG; Perry, Rachel R; Wadsworth, Mark E ME; Hoyt, Kaitlyn L KL; Staley, Lyndsay A LA; Karch, Celeste M CM; Harari, Oscar O; Cruchaga, Carlos C; Ainscough, Benjamin J BJ; Bales, Kelly K; Pickering, Eve H EH; Bertelsen, Sarah S; , ; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM
Publication Date: 2014-10

Variant appearance in text: rs4845371
PubMed Link: 25340798
Variant Present in the following documents:
  • pgen.1004758.s006.xlsx, sheet 1
View BVdb publication page



The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

Lancet (London, England)
, ; Swerdlow, Daniel I DI; Holmes, Michael V MV; Kuchenbaecker, Karoline B KB; Engmann, Jorgen E L JE; Shah, Tina T; Sofat, Reecha R; Guo, Yiran Y; Chung, Christina C; Peasey, Anne A; Pfister, Roman R; Mooijaart, Simon P SP; Ireland, Helen A HA; Leusink, Maarten M; Langenberg, Claudia C; Li, Ka Wah KW; Palmen, Jutta J; Howard, Philip P; Cooper, Jackie A JA; Drenos, Fotios F; Hardy, John J; Nalls, Michael A MA; Li, Yun Rose YR; Lowe, Gordon G; Stewart, Marlene M; Bielinski, Suzette J SJ; Peto, Julian J; Timpson, Nicholas J NJ; Gallacher, John J; Dunlop, Malcolm M; Houlston, Richard R; Tomlinson, Ian I; Tzoulaki, Ioanna I; Luan, Jian'an J; Boer, Jolanda M A JM; Forouhi, Nita G NG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Schnabel, Renate B RB; Hubacek, Jaroslav A JA; Kubinova, Ruzena R; Baceviciene, Migle M; Tamosiunas, Abdonas A; Pajak, Andrzej A; Topor-Madry, Roman R; Malyutina, Sofia S; Baldassarre, Damiano D; Sennblad, Bengt B; Tremoli, Elena E; de Faire, Ulf U; Ferrucci, Luigi L; Bandenelli, Stefania S; Tanaka, Toshiko T; Meschia, James F JF; Singleton, Andrew A; Navis, Gerjan G; Mateo Leach, Irene I; Bakker, Stephan J L SJ; Gansevoort, Ron T RT; Ford, Ian I; Epstein, Stephen E SE; Burnett, Mary Susan MS; Devaney, Joe M JM; Jukema, J Wouter JW; Westendorp, Rudi G J RG; Jan de Borst, Gert G; van der Graaf, Yolanda Y; de Jong, Pim A PA; Mailand-van der Zee, Anke-Hilse AH; Klungel, Olaf H OH; de Boer, Anthonius A; Doevendans, Pieter A PA; Stephens, Jeffrey W JW; Eaton, Charles B CB; Robinson, Jennifer G JG; Manson, JoAnn E JE; Fowkes, F Gerry FG; Frayling, Timonthy M TM; Price, Jackie F JF; Whincup, Peter H PH; Morris, Richard W RW; Lawlor, Debbie A DA; Smith, George Davey GD; Ben-Shlomo, Yoav Y; Redline, Susan S; Lange, Leslie A LA; Kumari, Meena M; Wareham, Nick J NJ; Verschuren, W M Monique WM; Benjamin, Emelia J EJ; Whittaker, John C JC; Hamsten, Anders A; Dudbridge, Frank F; Delaney, J A Chris JA; Wong, Andrew A; Kuh, Diana D; Hardy, Rebecca R; Castillo, Berta Almoguera BA; Connolly, John J JJ; van der Harst, Pim P; Brunner, Eric J EJ; Marmot, Michael G MG; Wassel, Christina L CL; Humphries, Steve E SE; Talmud, Philippa J PJ; Kivimaki, Mika M; Asselbergs, Folkert W FW; Voevoda, Mikhail M; Bobak, Martin M; Pikhart, Hynek H; Wilson, James G JG; Hakonarson, Hakon H; Reiner, Alex P AP; Keating, Brendan J BJ; Sattar, Naveed N; Hingorani, Aroon D AD; Casas, Juan Pablo JP
Publication Date: 2012-03-31

Variant appearance in text: rs4845371
PubMed Link: 22421340
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multigenic control of measles vaccine immunity mediated by polymorphisms in measles receptor, innate pathway, and cytokine genes.

Vaccine
Kennedy, Richard B RB; Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; O'Byrne, Megan M MM; Jacobson, Robert M RM; Pankratz, V Shane VS; Poland, Gregory A GA
Publication Date: 2012-03-09

Variant appearance in text: rs4845371
PubMed Link: 22265947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in CRP and LEPR influence high sensitivity C-reactive protein levels in North Indians.

Plos One
Mahajan, Anubha A; Tabassum, Rubina R; Chavali, Sreenivas S; Dwivedi, Om Prakash OP; Chauhan, Ganesh G; Ghosh, Saurabh S; Tandon, Nikhil N; Bharadwaj, Dwaipayan D
Publication Date: 2011

Variant appearance in text: rs4845371
PubMed Link: 21931794
Variant Present in the following documents:
  • Main text
  • pone.0024645.pdf
View BVdb publication page



Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Birmann, Brenda M BM; Tamimi, Rulla M RM; Giovannucci, Edward E; Rosner, Bernard B; Hunter, David J DJ; Kraft, Peter P; Mitsiades, Constantine C; Anderson, Kenneth C KC; Colditz, Graham A GA
Publication Date: 2009-01

Variant appearance in text: rs4845371
PubMed Link: 19124510
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.

Genes And Immunity
Rafiq, S S; Frayling, T M TM; Murray, A A; Hurst, A A; Stevens, K K; Weedon, M N MN; Henley, W W; Ferrucci, L L; Bandinelli, S S; Corsi, A-M AM; Guralnik, J M JM; Melzer, D D
Publication Date: 2007-10

Variant appearance in text: rs4845371
PubMed Link: 17671508
Variant Present in the following documents:
  • Main text
View BVdb publication page