CACNB2 c.333+36987C>G

Variant ID: 10-18727959-C-G

NM_201596.2(CACNB2):c.333+36987C>G

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Development of a genetic risk score to predict the risk of hypertension in European adolescents from the HELENA study.

Frontiers In Cardiovascular Medicine
Pérez-Gimeno, Gloria G; Seral-Cortes, Miguel M; Sabroso-Lasa, Sergio S; Esteban, Luis Mariano LM; Lurbe, Empar E; Béghin, Laurent L; Gottrand, Frederic F; Meirhaeghe, Aline A; Muntaner, Manon M; Kafatos, Anthony A; Molnár, Dénes D; Leclercq, Catherine C; Widhalm, Kurt K; Kersting, Mathilde M; Nova, Esther E; Salazar-Tortosa, Diego F DF; Gonzalez-Gross, Marcela M; Breidenassel, Christina C; Sinningen, Kathrin K; De Ruyter, Thaïs T; Labayen, Idoia I; Rupérez, Azahara I AI; Bueno-Lozano, Gloria G; Moreno, Luis A LA
Publication Date: 2023

Variant appearance in text: rs12258967
PubMed Link: 37324619
Variant Present in the following documents:
  • Main text
  • fcvm-10-1118919.pdf
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Multivariate Genome-wide Association Analysis by Iterative Hard Thresholding.

Bioinformatics (Oxford, England)
Chu, Benjamin B BB; Ko, Seyoon S; Zhou, Jin J JJ; Jensen, Aubrey A; Zhou, Hua H; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2023-04-17

Variant appearance in text: rs12258967
PubMed Link: 37067496
Variant Present in the following documents:
  • btad193_supplementary_data.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: rs12258967
PubMed Link: 34774144
Variant Present in the following documents:
  • mmc1.pdf
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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs12258967
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs12258967
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variation in Cardiometabolic Traits and Medication Targets and the Risk of Hypertensive Disorders of Pregnancy.

Circulation
Honigberg, Michael C MC; Chaffin, Mark M; Aragam, Krishna K; Bhatt, Deepak L DL; Wood, Malissa J MJ; Sarma, Amy A AA; Scott, Nandita S NS; Peloso, Gina M GM; Natarajan, Pradeep P
Publication Date: 2020-08-18

Variant appearance in text: rs12258967
PubMed Link: 32804569
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iterative hard thresholding in genome-wide association studies: Generalized linear models, prior weights, and double sparsity.

Gigascience
Chu, Benjamin B BB; Keys, Kevin L KL; German, Christopher A CA; Zhou, Hua H; Zhou, Jin J JJ; Sobel, Eric M EM; Sinsheimer, Janet S JS; Lange, Kenneth K
Publication Date: 2020-06-01

Variant appearance in text: rs12258967
PubMed Link: 32491161
Variant Present in the following documents:
  • Main text
  • giaa044_giga-d-19-00398_original_submission.pdf
  • giaa044_giga-d-19-00398_revision_2.pdf
  • giaa044.pdf
  • giaa044_giga-d-19-00398_revision_1.pdf
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Association between gene polymorphisms of voltage-dependent Ca2+ channels and hypertension in the Dai people of China: a case-control study.

Bmc Medical Genetics
Huang, Lifan L; Chu, Yan Y; Huang, Xiaoqin X; Ma, Shaohui S; Lin, Keqin K; Huang, Kai K; Sun, Hao H; Yang, Zhaoqing Z
Publication Date: 2020-02-28

Variant appearance in text: rs12258967
PubMed Link: 32111194
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_982.pdf
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Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects.

Circulation
Gill, Dipender D; Georgakis, Marios K MK; Koskeridis, Fotios F; Jiang, Lan L; Feng, Qiping Q; Wei, Wei-Qi WQ; Theodoratou, Evropi E; Elliott, Paul P; Denny, Joshua C JC; Malik, Rainer R; Evangelou, Evangelos E; Dehghan, Abbas A; Dichgans, Martin M; Tzoulaki, Ioanna I
Publication Date: 2019-07-23

Variant appearance in text: rs12258967
PubMed Link: 31234639
Variant Present in the following documents:
  • cir-140-270-s001.pdf
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Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

Nature Communications
Takeuchi, Fumihiko F; Akiyama, Masato M; Matoba, Nana N; Katsuya, Tomohiro T; Nakatochi, Masahiro M; Tabara, Yasuharu Y; Narita, Akira A; Saw, Woei-Yuh WY; Moon, Sanghoon S; Spracklen, Cassandra N CN; Chai, Jin-Fang JF; Kim, Young-Jin YJ; Zhang, Liang L; Wang, Chaolong C; Li, Huaixing H; Li, Honglan H; Wu, Jer-Yuarn JY; Dorajoo, Rajkumar R; Nierenberg, Jovia L JL; Wang, Ya Xing YX; He, Jing J; Bennett, Derrick A DA; Takahashi, Atsushi A; Momozawa, Yukihide Y; Hirata, Makoto M; Matsuda, Koichi K; Rakugi, Hiromi H; Nakashima, Eitaro E; Isono, Masato M; Shirota, Matsuyuki M; Hozawa, Atsushi A; Ichihara, Sahoko S; Matsubara, Tatsuaki T; Yamamoto, Ken K; Kohara, Katsuhiko K; Igase, Michiya M; Han, Sohee S; Gordon-Larsen, Penny P; Huang, Wei W; Lee, Nanette R NR; Adair, Linda S LS; Hwang, Mi Yeong MY; Lee, Juyoung J; Chee, Miao Li ML; Sabanayagam, Charumathi C; Zhao, Wanting W; Liu, Jianjun J; Reilly, Dermot F DF; Sun, Liang L; Huo, Shaofeng S; Edwards, Todd L TL; Long, Jirong J; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Yuan, Jian-Min JM; Koh, Woon-Puay WP; Friedlander, Yechiel Y; Kelly, Tanika N TN; Bin Wei, Wen W; Xu, Liang L; Cai, Hui H; Xiang, Yong-Bing YB; Lin, Kuang K; Clarke, Robert R; Walters, Robin G RG; Millwood, Iona Y IY; Li, Liming L; Chambers, John C JC; Kooner, Jaspal S JS; Elliott, Paul P; van der Harst, Pim P; , ; Chen, Zhengming Z; Sasaki, Makoto M; Shu, Xiao-Ou XO; Jonas, Jost B JB; He, Jiang J; Heng, Chew-Kiat CK; Chen, Yuan-Tsong YT; Zheng, Wei W; Lin, Xu X; Teo, Yik-Ying YY; Tai, E-Shyong ES; Cheng, Ching-Yu CY; Wong, Tien Yin TY; Sim, Xueling X; Mohlke, Karen L KL; Yamamoto, Masayuki M; Kim, Bong-Jo BJ; Miki, Tetsuro T; Nabika, Toru T; Yokota, Mitsuhiro M; Kamatani, Yoichiro Y; Kubo, Michiaki M; Kato, Norihiro N
Publication Date: 2018-11-28

Variant appearance in text: rs12258967
PubMed Link: 30487518
Variant Present in the following documents:
  • Main text
  • 41467_2018_7345_MOESM1_ESM.pdf
  • 41467_2018_Article_7345.pdf
  • 41467_2018_7345_MOESM2_ESM.pdf
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Association between ATP2B1 and CACNB2 polymorphisms and high blood pressure in a population of Lithuanian children and adolescents: a cross-sectional study.

Bmj Open
Simonyte, Sandrita S; Kuciene, Renata R; Dulskiene, Virginija V; Lesauskaite, Vaiva V
Publication Date: 2018-07-07

Variant appearance in text: rs12258967
PubMed Link: 29982197
Variant Present in the following documents:
  • Main text
  • bmjopen-2017-019902.draft_revisions.pdf
  • bmjopen-2017-019902.pdf
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Towards Precision Medicine for Hypertension: A Review of Genomic, Epigenomic, and Microbiomic Effects on Blood Pressure in Experimental Rat Models and Humans.

Physiological Reviews
Padmanabhan, Sandosh S; Joe, Bina B
Publication Date: 2017-10-01

Variant appearance in text: rs12258967
PubMed Link: 28931564
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic overlap between mood disorders and cardiometabolic diseases: a systematic review of genome wide and candidate gene studies.

Translational Psychiatry
Amare, A T AT; Schubert, K O KO; Klingler-Hoffmann, M M; Cohen-Woods, S S; Baune, B T BT
Publication Date: 2017-01-24

Variant appearance in text: rs12258967
PubMed Link: 28117839
Variant Present in the following documents:
  • Main text
  • tp2016261a.pdf
View BVdb publication page



Physical, behavioural and genetic predictors of adult hypertension: the findings of the Kaunas Cardiovascular Risk Cohort study.

Plos One
Petkeviciene, Janina J; Klumbiene, Jurate J; Simonyte, Sandrita S; Ceponiene, Indre I; Jureniene, Kristina K; Kriaucioniene, Vilma V; Raskiliene, Asta A; Smalinskiene, Alina A; Lesauskaite, Vaiva V
Publication Date: 2014

Variant appearance in text: rs12258967
PubMed Link: 25313554
Variant Present in the following documents:
  • Main text
  • pone.0109974.pdf
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Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations.

American Journal Of Human Genetics
Ganesh, Santhi K SK; Chasman, Daniel I DI; Larson, Martin G MG; Guo, Xiuqing X; Verwoert, Germain G; Bis, Joshua C JC; Gu, Xiangjun X; Smith, Albert V AV; Yang, Min-Lee ML; Zhang, Yan Y; Ehret, Georg G; Rose, Lynda M LM; Hwang, Shih-Jen SJ; Papanicolau, George J GJ; Sijbrands, Eric J EJ; Rice, Kenneth K; Eiriksdottir, Gudny G; Pihur, Vasyl V; Ridker, Paul M PM; Vasan, Ramachandran S RS; Newton-Cheh, Christopher C; , ; Raffel, Leslie J LJ; Amin, Najaf N; Rotter, Jerome I JI; Liu, Kiang K; Launer, Lenore J LJ; Xu, Ming M; Caulfield, Mark M; Morrison, Alanna C AC; Johnson, Andrew D AD; Vaidya, Dhananjay D; Dehghan, Abbas A; Li, Guo G; Bouchard, Claude C; Harris, Tamara B TB; Zhang, He H; Boerwinkle, Eric E; Siscovick, David S DS; Gao, Wei W; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Hofman, Albert A; Willer, Cristen J CJ; Franco, Oscar H OH; Huo, Yong Y; Witteman, Jacqueline C M JC; Munroe, Patricia B PB; Gudnason, Vilmundur V; Palmas, Walter W; van Duijn, Cornelia C; Fornage, Myriam M; Levy, Daniel D; Psaty, Bruce M BM; Chakravarti, Aravinda A
Publication Date: 2014-07-03

Variant appearance in text: rs12258967
PubMed Link: 24975945
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying common genetic variants in blood pressure due to polygenic pleiotropy with associated phenotypes.

Hypertension (Dallas, Tex. : 1979)
Andreassen, Ole A OA; McEvoy, Linda K LK; Thompson, Wesley K WK; Wang, Yunpeng Y; Reppe, Sjur S; Schork, Andrew J AJ; Zuber, Verena V; Barrett-Connor, Elizabeth E; Gautvik, Kaare K; Aukrust, Pål P; Karlsen, Tom H TH; Djurovic, Srdjan S; Desikan, Rahul S RS; Dale, Anders M AM; ,
Publication Date: 2014-04

Variant appearance in text: rs12258967
PubMed Link: 24396023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

Nature Genetics
Wain, Louise V LV; Verwoert, Germaine C GC; O'Reilly, Paul F PF; Shi, Gang G; Johnson, Toby T; Johnson, Andrew D AD; Bochud, Murielle M; Rice, Kenneth M KM; Henneman, Peter P; Smith, Albert V AV; Ehret, Georg B GB; Amin, Najaf N; Larson, Martin G MG; Mooser, Vincent V; Hadley, David D; Dörr, Marcus M; Bis, Joshua C JC; Aspelund, Thor T; Esko, Tõnu T; Janssens, A Cecile J W AC; Zhao, Jing Hua JH; Heath, Simon S; Laan, Maris M; Fu, Jingyuan J; Pistis, Giorgio G; Luan, Jian'an J; Arora, Pankaj P; Lucas, Gavin G; Pirastu, Nicola N; Pichler, Irene I; Jackson, Anne U AU; Webster, Rebecca J RJ; Zhang, Feng F; Peden, John F JF; Schmidt, Helena H; Tanaka, Toshiko T; Campbell, Harry H; Igl, Wilmar W; Milaneschi, Yuri Y; Hottenga, Jouke-Jan JJ; Vitart, Veronique V; Chasman, Daniel I DI; Trompet, Stella S; Bragg-Gresham, Jennifer L JL; Alizadeh, Behrooz Z BZ; Chambers, John C JC; Guo, Xiuqing X; Lehtimäki, Terho T; Kühnel, Brigitte B; Lopez, Lorna M LM; Polašek, Ozren O; Boban, Mladen M; Nelson, Christopher P CP; Morrison, Alanna C AC; Pihur, Vasyl V; Ganesh, Santhi K SK; Hofman, Albert A; Kundu, Suman S; Mattace-Raso, Francesco U S FU; Rivadeneira, Fernando F; Sijbrands, Eric J G EJ; Uitterlinden, Andre G AG; Hwang, Shih-Jen SJ; Vasan, Ramachandran S RS; Wang, Thomas J TJ; Bergmann, Sven S; Vollenweider, Peter P; Waeber, Gérard G; Laitinen, Jaana J; Pouta, Anneli A; Zitting, Paavo P; McArdle, Wendy L WL; Kroemer, Heyo K HK; Völker, Uwe U; Völzke, Henry H; Glazer, Nicole L NL; Taylor, Kent D KD; Harris, Tamara B TB; Alavere, Helene H; Haller, Toomas T; Keis, Aime A; Tammesoo, Mari-Liis ML; Aulchenko, Yurii Y; Barroso, Inês I; Khaw, Kay-Tee KT; Galan, Pilar P; Hercberg, Serge S; Lathrop, Mark M; Eyheramendy, Susana S; Org, Elin E; Sõber, Siim S; Lu, Xiaowen X; Nolte, Ilja M IM; Penninx, Brenda W BW; Corre, Tanguy T; Masciullo, Corrado C; Sala, Cinzia C; Groop, Leif L; Voight, Benjamin F BF; Melander, Olle O; O'Donnell, Christopher J CJ; Salomaa, Veikko V; d'Adamo, Adamo Pio AP; Fabretto, Antonella A; Faletra, Flavio F; Ulivi, Sheila S; Del Greco, Fabiola M F; Facheris, Maurizio M; Collins, Francis S FS; Bergman, Richard N RN; Beilby, John P JP; Hung, Joseph J; Musk, A William AW; Mangino, Massimo M; Shin, So-Youn SY; Soranzo, Nicole N; Watkins, Hugh H; Goel, Anuj A; Hamsten, Anders A; Gider, Pierre P; Loitfelder, Marisa M; Zeginigg, Marion M; Hernandez, Dena D; Najjar, Samer S SS; Navarro, Pau P; Wild, Sarah H SH; Corsi, Anna Maria AM; Singleton, Andrew A; de Geus, Eco J C EJ; Willemsen, Gonneke G; Parker, Alex N AN; Rose, Lynda M LM; Buckley, Brendan B; Stott, David D; Orru, Marco M; Uda, Manuela M; , ; van der Klauw, Melanie M MM; Zhang, Weihua W; Li, Xinzhong X; Scott, James J; Chen, Yii-Der Ida YD; Burke, Gregory L GL; Kähönen, Mika M; Viikari, Jorma J; Döring, Angela A; Meitinger, Thomas T; Davies, Gail G; Starr, John M JM; Emilsson, Valur V; Plump, Andrew A; Lindeman, Jan H JH; Hoen, Peter A C 't PA; König, Inke R IR; , ; Felix, Janine F JF; Clarke, Robert R; Hopewell, Jemma C JC; Ongen, Halit H; Breteler, Monique M; Debette, Stéphanie S; Destefano, Anita L AL; Fornage, Myriam M; , ; Mitchell, Gary F GF; , ; Smith, Nicholas L NL; , ; Holm, Hilma H; Stefansson, Kari K; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; , ; , ; , ; Samani, Nilesh J NJ; Preuss, Michael M; Rudan, Igor I; Hayward, Caroline C; Deary, Ian J IJ; Wichmann, H-Erich HE; Raitakari, Olli T OT; Palmas, Walter W; Kooner, Jaspal S JS; Stolk, Ronald P RP; Jukema, J Wouter JW; Wright, Alan F AF; Boomsma, Dorret I DI; Bandinelli, Stefania S; Gyllensten, Ulf B UB; Wilson, James F JF; Ferrucci, Luigi L; Schmidt, Reinhold R; Farrall, Martin M; Spector, Tim D TD; Palmer, Lyle J LJ; Tuomilehto, Jaakko J; Pfeufer, Arne A; Gasparini, Paolo P; Siscovick, David D; Altshuler, David D; Loos, Ruth J F RJ; Toniolo, Daniela D; Snieder, Harold H; Gieger, Christian C; Meneton, Pierre P; Wareham, Nicholas J NJ; Oostra, Ben A BA; Metspalu, Andres A; Launer, Lenore L; Rettig, Rainer R; Strachan, David P DP; Beckmann, Jacques S JS; Witteman, Jacqueline C M JC; Erdmann, Jeanette J; van Dijk, Ko Willems KW; Boerwinkle, Eric E; Boehnke, Michael M; Ridker, Paul M PM; Jarvelin, Marjo-Riitta MR; Chakravarti, Aravinda A; Abecasis, Goncalo R GR; Gudnason, Vilmundur V; Newton-Cheh, Christopher C; Levy, Daniel D; Munroe, Patricia B PB; Psaty, Bruce M BM; Caulfield, Mark J MJ; Rao, Dabeeru C DC; Tobin, Martin D MD; Elliott, Paul P; van Duijn, Cornelia M CM
Publication Date: 2011-09-11

Variant appearance in text: rs12258967
PubMed Link: 21909110
Variant Present in the following documents:
  • NIHMS316759-supplement-1.pdf
View BVdb publication page