PRKAG2 c.467-42318T>C

Variant ID: 7-151415041-A-G

NM_016203.3(PRKAG2):c.467-42318T>C

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Genetic and epigenetic background of diabetic kidney disease.

Frontiers In Endocrinology
Sandholm, Niina N; Dahlström, Emma H EH; Groop, Per-Henrik PH
Publication Date: 2023

Variant appearance in text: rs10224002
PubMed Link: 37324271
Variant Present in the following documents:
  • Main text
  • fendo-14-1163001.pdf
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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: rs10224002
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.

Molecular Genetics & Genomic Medicine
Gong, Xue X; Yu, Peiyu P; Wu, Ting T; He, Yunru Y; Zhou, Kaiyu K; Hua, Yimin Y; Lin, Sha S; Wang, Tao T; Huang, He H; Li, Yifei Y
Publication Date: 2022-07

Variant appearance in text: rs10224002
PubMed Link: 35588295
Variant Present in the following documents:
  • MGG3-10-e1962.pdf
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Blood pressure lowering and risk of new-onset type 2 diabetes: an individual participant data meta-analysis.

Lancet (London, England)
Nazarzadeh, Milad M; Bidel, Zeinab Z; Canoy, Dexter D; Copland, Emma E; Wamil, Malgorzata M; Majert, Jeannette J; Smith Byrne, Karl K; Sundström, Johan J; Teo, Koon K; Davis, Barry R BR; Chalmers, John J; Pepine, Carl J CJ; Dehghan, Abbas A; Bennett, Derrick A DA; Smith, George Davey GD; Rahimi, Kazem K; ,
Publication Date: 2021-11-13

Variant appearance in text: rs10224002
PubMed Link: 34774144
Variant Present in the following documents:
  • mmc1.pdf
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Kidney damage causally affects the brain cortical structure: A Mendelian randomization study.

Ebiomedicine
Chen, Xiong X; Kong, Jianqiu J; Pan, Jiexin J; Huang, Kai K; Zhou, Wenhao W; Diao, Xiayao X; Cai, Jiahao J; Zheng, Junjiong J; Yang, Xuefan X; Xie, Weibin W; Yu, Hao H; Li, Jiande J; Pei, Lu L; Dong, Wen W; Qin, Haide H; Huang, Jian J; Lin, Tianxin T
Publication Date: 2021-10

Variant appearance in text: rs10224002
PubMed Link: 34619639
Variant Present in the following documents:
  • Main text
  • main.pdf
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; Lindström, Jaana J; Lotta, Luca A LA; Lu, Yingchang Y; Luan, Jian'an J; Mahajan, Anubha A; Malerba, Giovanni G; Masca, Nicholas G D NGD; Mei, Hao H; Menni, Cristina C; Mook-Kanamori, Dennis O DO; Mosen-Ansorena, David D; Müller-Nurasyid, Martina M; Paré, Guillaume G; Paul, Dirk S DS; Perola, Markus M; Poveda, Alaitz A; Rauramaa, Rainer R; Richard, Melissa M; Richardson, Tom G TG; Sepúlveda, Nuno N; Sim, Xueling X; Smith, Albert V AV; Smith, Jennifer A JA; Staley, James R JR; Stanáková, Alena A; Sulem, Patrick P; Thériault, Sébastien S; Thorsteinsdottir, Unnur U; Trompet, Stella S; Varga, Tibor V TV; Velez Edwards, Digna R DR; Veronesi, Giovanni G; Weiss, Stefan S; Willems, Sara M SM; Yao, Jie J; Young, Robin R; Yu, Bing B; Zhang, Weihua W; Zhao, Jing-Hua JH; Zhao, Wei W; Zhao, Wei W; Evangelou, Evangelos E; Aeschbacher, Stefanie S; Asllanaj, Eralda E; Blankenberg, Stefan S; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Brandslund, Ivan I; Braund, Peter S PS; Burgess, Stephen S; Cho, Kelly K; Christensen, Cramer C; Connell, John J; Mutsert, Renée de R; Dominiczak, Anna F AF; Dörr, Marcus M; Eiriksdottir, Gudny G; Farmaki, Aliki-Eleni AE; Gaziano, J Michael JM; Grarup, Niels N; Grove, Megan L ML; Hallmans, Göran G; Hansen, Torben T; Have, Christian T CT; Heiss, Gerardo G; Jørgensen, Marit E ME; Jousilahti, Pekka P; Kajantie, Eero E; Kamat, Mihir M; Käräjämäki, AnneMari A; Karpe, Fredrik F; Koistinen, Heikki A HA; Kovesdy, Csaba P CP; Kuulasmaa, Kari K; Laatikainen, Tiina T; Lannfelt, Lars L; Lee, I-Te IT; Lee, Wen-Jane WJ; , ; Linneberg, Allan A; Martin, Lisa W LW; Moitry, Marie M; Nadkarni, Girish G; Neville, Matt J MJ; Palmer, Colin N A CNA; Papanicolaou, George J GJ; Pedersen, Oluf O; Peters, James J; Poulter, Neil N; Rasheed, Asif A; Rasmussen, Katrine L KL; Rayner, N William NW; Mägi, Reedik R; Renström, Frida F; Rettig, Rainer R; Rossouw, Jacques J; Schreiner, Pamela J PJ; Sever, Peter S PS; Sigurdsson, Emil L EL; Skaaby, Tea T; Sun, Yan V YV; Sundstrom, Johan J; Thorgeirsson, Gudmundur G; Esko, Tõnu T; Trabetti, Elisabetta E; Tsao, Philip S PS; Tuomi, Tiinamaija T; Turner, Stephen T ST; Tzoulaki, Ioanna I; Vaartjes, Ilonca I; Vergnaud, Anne-Claire AC; Willer, Cristen J CJ; Wilson, Peter W F PWF; Witte, Daniel R DR; Yonova-Doing, Ekaterina E; Zhang, He H; Aliya, Naheed N; Almgren, Peter P; Amouyel, Philippe P; Asselbergs, Folkert W FW; Barnes, Michael R MR; Blakemore, Alexandra I AI; Boehnke, Michael M; Bots, Michiel L ML; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Conen, David D; Correa, Adolfo A; Davey Smith, George G; Boer, Rudolf A de RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Di Angelantonio, Emanuele E; Elliott, Paul P; , ; , ; Felix, Stephan B SB; Ferrières, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Franks, Stephen S; Frossard, Philippe P; Gambaro, Giovanni G; Gaunt, Tom R TR; Groop, Leif L; Gudnason, Vilmundur V; Harris, Tamara B TB; Hayward, Caroline C; Hennig, Branwen J BJ; Herzig, Karl-Heinz KH; Ingelsson, Erik E; Tuomilehto, Jaakko J; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kardia, Sharon L R SLR; Kee, Frank F; Kooner, Jaspal S JS; Kooperberg, Charles C; Launer, Lenore J LJ; Lind, Lars L; Loos, Ruth J F RJF; Majumder, Abdulla Al Shafi AAS; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Murray, Alison D AD; Nordestgaard, Børge Grønne BG; Orho-Melander, Marju M; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmas, Walter W; Polasek, Ozren O; Porteous, David J DJ; Prentice, Andrew M AM; Province, Michael A MA; Relton, Caroline L CL; Rice, Kenneth K; Ridker, Paul M PM; Rolandsson, Olov O; Rosendaal, Frits R FR; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sattar, Naveed N; Sheu, Wayne H-H WH; Smith, Blair H BH; Soranzo, Nicole N; Spector, Timothy D TD; Starr, John M JM; Sebert, Sylvain S; Taylor, Kent D KD; Lakka, Timo A TA; Timpson, Nicholas J NJ; Tobin, Martin D MD; , ; van der Harst, Pim P; van der Meer, Peter P; Ramachandran, Vasan S VS; Verweij, Niek N; Virtamo, Jarmo J; Völker, Uwe U; Weir, David R DR; Zeggini, Eleftheria E; Charchar, Fadi J FJ; , ; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tomaszewski, Maciej M; Butterworth, Adam S AS; Caulfield, Mark J MJ; Danesh, John J; Edwards, Todd L TL; Holm, Hilma H; Hung, Adriana M AM; Lindgren, Cecilia M CM; Liu, Chunyu C; Manning, Alisa K AK; Morris, Andrew P AP; Morrison, Alanna C AC; O'Donnell, Christopher J CJ; Psaty, Bruce M BM; Saleheen, Danish D; Stefansson, Kari K; Boerwinkle, Eric E; Chasman, Daniel I DI; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM
Publication Date: 2020-12

Variant appearance in text: rs10224002
PubMed Link: 33230300
Variant Present in the following documents:
  • Main text
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Mendelian randomization study shows no causal effects of serum urate levels on the risk of MS.

Neurology(R) Neuroimmunology & Neuroinflammation
Harroud, Adil A; Richards, J Brent JB; Baranzini, Sergio E SE
Publication Date: 2021-01

Variant appearance in text: rs10224002
PubMed Link: 33214142
Variant Present in the following documents:
  • NEURIMMINFL2020030502.pdf
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Serum Uric Acid Level and Multiple Sclerosis: A Mendelian Randomization Study.

Frontiers In Genetics
Niu, Peng-Peng PP; Song, Bo B; Wang, Xue X; Xu, Yu-Ming YM
Publication Date: 2020

Variant appearance in text: rs10224002
PubMed Link: 32292418
Variant Present in the following documents:
  • Main text
  • fgene-11-00254.pdf
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Genetics of diabetic kidney disease: A follow-up study in the Arab population of the United Arab Emirates.

Molecular Genetics & Genomic Medicine
Osman, Wael M WM; Jelinek, Herbert F HF; Tay, Guan K GK; Hassan, Mohamed H MH; Almahmeed, Wael W; Khandoker, Ahsan H AH; Khalaf, Kinda K; Alsafar, Habiba S HS
Publication Date: 2019-12

Variant appearance in text: rs10224002
PubMed Link: 31568687
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.

Diabetes
van Zuydam, Natalie R NR; Ahlqvist, Emma E; Sandholm, Niina N; Deshmukh, Harshal H; Rayner, N William NW; Abdalla, Moustafa M; Ladenvall, Claes C; Ziemek, Daniel D; Fauman, Eric E; Robertson, Neil R NR; McKeigue, Paul M PM; Valo, Erkka E; Forsblom, Carol C; Harjutsalo, Valma V; , ; Perna, Annalisa A; Rurali, Erica E; Marcovecchio, M Loredana ML; Igo, Robert P RP; Salem, Rany M RM; Perico, Norberto N; Lajer, Maria M; Käräjämäki, Annemari A; Imamura, Minako M; Kubo, Michiaki M; Takahashi, Atsushi A; Sim, Xueling X; Liu, Jianjun J; van Dam, Rob M RM; Jiang, Guozhi G; Tam, Claudia H T CHT; Luk, Andrea O Y AOY; Lee, Heung Man HM; Lim, Cadmon K P CKP; Szeto, Cheuk Chun CC; So, Wing Yee WY; Chan, Juliana C N JCN; , ; Ang, Su Fen SF; Dorajoo, Rajkumar R; Wang, Ling L; Clara, Tan Si Hua TSH; McKnight, Amy-Jayne AJ; Duffy, Seamus S; , ; Pezzolesi, Marcus G MG; , ; Marre, Michel M; Gyorgy, Beata B; Hadjadj, Samy S; Hiraki, Linda T LT; , ; Ahluwalia, Tarunveer S TS; Almgren, Peter P; Schulz, Christina-Alexandra CA; Orho-Melander, Marju M; Linneberg, Allan A; Christensen, Cramer C; Witte, Daniel R DR; Grarup, Niels N; Brandslund, Ivan I; Melander, Olle O; Paterson, Andrew D AD; Tregouet, David D; Maxwell, Alexander P AP; Lim, Su Chi SC; Ma, Ronald C W RCW; Tai, E Shyong ES; Maeda, Shiro S; Lyssenko, Valeriya V; Tuomi, Tiinamaija T; Krolewski, Andrzej S AS; Rich, Stephen S SS; Hirschhorn, Joel N JN; Florez, Jose C JC; Dunger, David D; Pedersen, Oluf O; Hansen, Torben T; Rossing, Peter P; Remuzzi, Giuseppe G; , ; Brosnan, Mary Julia MJ; Palmer, Colin N A CNA; Groop, Per-Henrik PH; Colhoun, Helen M HM; Groop, Leif C LC; McCarthy, Mark I MI
Publication Date: 2018-07

Variant appearance in text: rs10224002
PubMed Link: 29703844
Variant Present in the following documents:
  • Main text
View BVdb publication page



Examination of previously identified associations within the Genetic Analysis Workshop 19 data.

Bmc Proceedings
Howey, Richard A J RA; Eu-Ahsunthornwattana, Jakris J; Darlay, Rebecca R; Cordell, Heather J HJ
Publication Date: 2016

Variant appearance in text: rs10224002
PubMed Link: 27980618
Variant Present in the following documents:
  • Main text
  • 12919_2016_Article_12.pdf
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Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2014-06

Variant appearance in text: rs10224002
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
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Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.

American Journal Of Human Genetics
Tragante, Vinicius V; Barnes, Michael R MR; Ganesh, Santhi K SK; Lanktree, Matthew B MB; Guo, Wei W; Franceschini, Nora N; Smith, Erin N EN; Johnson, Toby T; Holmes, Michael V MV; Padmanabhan, Sandosh S; Karczewski, Konrad J KJ; Almoguera, Berta B; Barnard, John J; Baumert, Jens J; Chang, Yen-Pei Christy YP; Elbers, Clara C CC; Farrall, Martin M; Fischer, Mary E ME; Gaunt, Tom R TR; Gho, Johannes M I H JM; Gieger, Christian C; Goel, Anuj A; Gong, Yan Y; Isaacs, Aaron A; Kleber, Marcus E ME; Mateo Leach, Irene I; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Melander, Olle O; Nelson, Christopher P CP; Nolte, Ilja M IM; Pankratz, Nathan N; Price, Tom S TS; Shaffer, Jonathan J; Shah, Sonia S; Tomaszewski, Maciej M; van der Most, Peter J PJ; Van Iperen, Erik P A EP; Vonk, Judith M JM; Witkowska, Kate K; Wong, Caroline O L CO; Zhang, Li L; Beitelshees, Amber L AL; Berenson, Gerald S GS; Bhatt, Deepak L DL; Brown, Morris M; Burt, Amber A; Cooper-DeHoff, Rhonda M RM; Connell, John M JM; Cruickshanks, Karen J KJ; Curtis, Sean P SP; Davey-Smith, George G; Delles, Christian C; Gansevoort, Ron T RT; Guo, Xiuqing X; Haiqing, Shen S; Hastie, Claire E CE; Hofker, Marten H MH; Hovingh, G Kees GK; Kim, Daniel S DS; Kirkland, Susan A SA; Klein, Barbara E BE; Klein, Ronald R; Li, Yun R YR; Maiwald, Steffi S; Newton-Cheh, Christopher C; O'Brien, Eoin T ET; Onland-Moret, N Charlotte NC; Palmas, Walter W; Parsa, Afshin A; Penninx, Brenda W BW; Pettinger, Mary M; Vasan, Ramachandran S RS; Ranchalis, Jane E JE; M Ridker, Paul P; Rose, Lynda M LM; Sever, Peter P; Shimbo, Daichi D; Steele, Laura L; Stolk, Ronald P RP; Thorand, Barbara B; Trip, Mieke D MD; van Duijn, Cornelia M CM; Verschuren, W Monique WM; Wijmenga, Cisca C; Wyatt, Sharon S; Young, J Hunter JH; Zwinderman, Aeilko H AH; Bezzina, Connie R CR; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Chakravarti, Aravinda A; Chasman, Daniel I DI; Davidson, Karina W KW; Doevendans, Pieter A PA; Dominiczak, Anna F AF; FitzGerald, Garret A GA; Gums, John G JG; Fornage, Myriam M; Hakonarson, Hakon H; Halder, Indrani I; Hillege, Hans L HL; Illig, Thomas T; Jarvik, Gail P GP; Johnson, Julie A JA; Kastelein, John J P JJ; Koenig, Wolfgang W; Kumari, Meena M; März, Winfried W; Murray, Sarah S SS; O'Connell, Jeffery R JR; Oldehinkel, Albertine J AJ; Pankow, James S JS; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Schadt, Eric E EE; Kottke-Marchant, Kandice K; Snieder, Harold H; Snyder, Michael M; Stanton, Alice V AV; Tobin, Martin D MD; Uitterlinden, André G AG; van der Harst, Pim P; van der Schouw, Yvonne T YT; Samani, Nilesh J NJ; Watkins, Hugh H; Johnson, Andrew D AD; Reiner, Alex P AP; Zhu, Xiaofeng X; de Bakker, Paul I W PI; Levy, Daniel D; Asselbergs, Folkert W FW; Munroe, Patricia B PB; Keating, Brendan J BJ
Publication Date: 2014-03-06

Variant appearance in text: rs10224002
PubMed Link: 24560520
Variant Present in the following documents:
  • Main text
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Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

Human Genetics
Lo, Ken Sin KS; Wilson, James G JG; Lange, Leslie A LA; Folsom, Aaron R AR; Galarneau, Geneviève G; Ganesh, Santhi K SK; Grant, Struan F A SF; Keating, Brendan J BJ; McCarroll, Steven A SA; Mohler, Emile R ER; O'Donnell, Christopher J CJ; Palmas, Walter W; Tang, Weihong W; Tracy, Russell P RP; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2011-03

Variant appearance in text: rs10224002
PubMed Link: 21153663
Variant Present in the following documents:
  • Main text
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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Nature Genetics
Ganesh, Santhi K SK; Zakai, Neil A NA; van Rooij, Frank J A FJ; Soranzo, Nicole N; Smith, Albert V AV; Nalls, Michael A MA; Chen, Ming-Huei MH; Kottgen, Anna A; Glazer, Nicole L NL; Dehghan, Abbas A; Kuhnel, Brigitte B; Aspelund, Thor T; Yang, Qiong Q; Tanaka, Toshiko T; Jaffe, Andrew A; Bis, Joshua C M JC; Verwoert, Germaine C GC; Teumer, Alexander A; Fox, Caroline S CS; Guralnik, Jack M JM; Ehret, Georg B GB; Rice, Kenneth K; Felix, Janine F JF; Rendon, Augusto A; Eiriksdottir, Gudny G; Levy, Daniel D; Patel, Kushang V KV; Boerwinkle, Eric E; Rotter, Jerome I JI; Hofman, Albert A; Sambrook, Jennifer G JG; Hernandez, Dena G DG; Zheng, Gang G; Bandinelli, Stefania S; Singleton, Andrew B AB; Coresh, Josef J; Lumley, Thomas T; Uitterlinden, André G AG; Vangils, Janine M JM; Launer, Lenore J LJ; Cupples, L Adrienne LA; Oostra, Ben A BA; Zwaginga, Jaap-Jan JJ; Ouwehand, Willem H WH; Thein, Swee-Lay SL; Meisinger, Christa C; Deloukas, Panos P; Nauck, Matthias M; Spector, Tim D TD; Gieger, Christian C; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Psaty, Bruce M BM; Ferrucci, Luigi L; Chakravarti, Aravinda A; Greinacher, Andreas A; O'Donnell, Christopher J CJ; Witteman, Jacqueline C M JC; Furth, Susan S; Cushman, Mary M; Harris, Tamara B TB; Lin, Jing-Ping JP
Publication Date: 2009-11

Variant appearance in text: rs10224002
PubMed Link: 19862010
Variant Present in the following documents:
  • Main text
  • nihms-145796.pdf
  • NIHMS145796-supplement-1.pdf
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