MERTK c.61+8828C>T

Variant ID: 2-112665201-C-T

NM_006343.2(MERTK):c.61+8828C>T

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Identification of Genetic Networks Reveals Complex Associations and Risk Trajectory Linking Mild Cognitive Impairment to Alzheimer's Disease.

Frontiers In Aging Neuroscience
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Fabrizio, Carlo C; Calvino, Giulia G; Megalizzi, Domenica D; Ruffo, Paola P; Toppi, Elisa E; Banaj, Nerisa N; Bassi, Andrea A; Bossù, Paola P; Caltagirone, Carlo C; Spalletta, Gianfranco G; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2022

Variant appearance in text: rs17174870
PubMed Link: 35250545
Variant Present in the following documents:
  • Main text
  • fnagi-14-821789.pdf
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Immune System and Neuroinflammation in Idiopathic Parkinson's Disease: Association Analysis of Genetic Variants and miRNAs Interactions.

Frontiers In Genetics
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Assogna, Francesca F; Pellicano, Clelia C; Pontieri, Francesco E FE; Macchiusi, Lucia L; Minozzi, Giulietta G; Gambardella, Stefano S; Centonze, Diego D; Bossù, Paola P; Spalletta, Gianfranco G; Caltagirone, Carlo C; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2021

Variant appearance in text: rs17174870
PubMed Link: 34149802
Variant Present in the following documents:
  • Main text
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Genetic Determinants Highlight the Existence of Shared Etiopathogenetic Mechanisms Characterizing Age-Related Macular Degeneration and Neurodegenerative Disorders.

Frontiers In Neurology
Strafella, Claudia C; Caputo, Valerio V; Termine, Andrea A; Fabrizio, Carlo C; Ruffo, Paola P; Potenza, Saverio S; Cusumano, Andrea A; Ricci, Federico F; Caltagirone, Carlo C; Giardina, Emiliano E; Cascella, Raffaella R
Publication Date: 2021

Variant appearance in text: rs17174870
PubMed Link: 34135841
Variant Present in the following documents:
  • Main text
  • fneur-12-626066.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: rs17174870
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Transcript specific regulation of expression influences susceptibility to multiple sclerosis.

European Journal Of Human Genetics : Ejhg
Ban, Maria M; Liao, Wenjia W; Baker, Amie A; Compston, Alastair A; Thorpe, John J; Molyneux, Paul P; Fraser, Mary M; Khadake, Jyoti J; Jones, Joanne J; Coles, Alasdair A; Sawcer, Stephen S
Publication Date: 2020-06

Variant appearance in text: rs17174870
PubMed Link: 31932686
Variant Present in the following documents:
  • Main text
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Molecular mechanism for the multiple sclerosis risk variant rs17594362.

Human Molecular Genetics
Kim, Dongkyeong D; Park, Yungki Y
Publication Date: 2019-11-01

Variant appearance in text: rs17174870
PubMed Link: 31509193
Variant Present in the following documents:
  • Main text
  • ddz216.pdf
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Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

Physiological Genomics
Shepard, C Joy CJ; Cline, Sara G SG; Hinds, David D; Jahanbakhsh, Seyedehameneh S; Prokop, Jeremy W JW
Publication Date: 2019-11-01

Variant appearance in text: rs17174870
PubMed Link: 31482761
Variant Present in the following documents:
  • Main text
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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: rs17174870
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: rs17174870
PubMed Link: 27540591
Variant Present in the following documents:
  • Main text
  • NG2015001412.pdf
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Common and Low Frequency Variants in MERTK Are Independently Associated with Multiple Sclerosis Susceptibility with Discordant Association Dependent upon HLA-DRB1*15:01 Status.

Plos Genetics
Binder, Michele D MD; Fox, Andrew D AD; Merlo, Daniel D; Johnson, Laura J LJ; Giuffrida, Lauren L; Calvert, Sarah E SE; Akkermann, Rainer R; Ma, Gerry Z M GZ; , ; Perera, Ashwyn A AA; Gresle, Melissa M MM; Laverick, Louise L; Foo, Grace G; Fabis-Pedrini, Marzena J MJ; Spelman, Timothy T; Jordan, Margaret A MA; Baxter, Alan G AG; Foote, Simon S; Butzkueven, Helmut H; Kilpatrick, Trevor J TJ; Field, Judith J
Publication Date: 2016-03

Variant appearance in text: rs17174870
PubMed Link: 26990204
Variant Present in the following documents:
  • Main text
  • pgen.1005853.pdf
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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: rs17174870
PubMed Link: 26011527
Variant Present in the following documents:
  • Main text
  • pone.0127632.pdf
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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: rs17174870
PubMed Link: 24234648
Variant Present in the following documents:
  • Main text
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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: rs17174870
PubMed Link: 24019748
Variant Present in the following documents:
  • Main text
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Progress in multiple sclerosis genetics.

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

Variant appearance in text: rs17174870
PubMed Link: 23730204
Variant Present in the following documents:
  • Main text
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Genome-wide analysis of LXRα activation reveals new transcriptional networks in human atherosclerotic foam cells.

Nucleic Acids Research
Feldmann, Radmila R; Fischer, Cornelius C; Kodelja, Vitam V; Behrens, Sarah S; Haas, Stefan S; Vingron, Martin M; Timmermann, Bernd B; Geikowski, Anne A; Sauer, Sascha S
Publication Date: 2013-04-01

Variant appearance in text: rs17174870
PubMed Link: 23393188
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs17174870
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: rs17174870
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: rs17174870
PubMed Link: 22396755
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: rs17174870
PubMed Link: 22164203
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: rs17174870
PubMed Link: 21833088
Variant Present in the following documents:
  • NIHMS36028-supplement-1.pdf
View BVdb publication page



Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility.

Plos One
Ma, Gerry Z M GZ; Stankovich, Jim J; , ; Kilpatrick, Trevor J TJ; Binder, Michele D MD; Field, Judith J
Publication Date: 2011-02-08

Variant appearance in text: rs17174870
PubMed Link: 21347448
Variant Present in the following documents:
  • Main text
  • pone.0016964.pdf
View BVdb publication page