CETP c.234-2413G>A

Variant ID: 16-57000885-G-A

NM_000078.2(CETP):c.234-2413G>A

This variant was identified in 14 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: rs12720922
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs12720922
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs12720922
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Trimethylamine N-oxide and the reverse cholesterol transport in cardiovascular disease: a cross-sectional study.

Scientific Reports
Bordoni, Laura L; Samulak, Joanna J JJ; Sawicka, Angelika K AK; Pelikant-Malecka, Iwona I; Radulska, Adrianna A; Lewicki, Lukasz L; Kalinowski, Leszek L; Gabbianelli, Rosita R; Olek, Robert A RA
Publication Date: 2020-10-29

Variant appearance in text: rs12720922
PubMed Link: 33122777
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_75633.pdf
View BVdb publication page



Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.

Human Genetics
Hebbar, Prashantha P; Abubaker, Jehad Ahmed JA; Abu-Farha, Mohamed M; Alsmadi, Osama O; Elkum, Naser N; Alkayal, Fadi F; John, Sumi Elsa SE; Channanath, Arshad A; Iqbal, Rasheeba R; Pitkaniemi, Janne J; Tuomilehto, Jaakko J; Sladek, Robert R; Al-Mulla, Fahd F; Thanaraj, Thangavel Alphonse TA
Publication Date: 2021-03

Variant appearance in text: rs12720922
PubMed Link: 32902719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correction: Lipoprotein signatures of cholesteryl ester transfer protein and HMG-CoA reductase inhibition.

Plos Biology
Kettunen, Johannes J; Holmes, Michael V MV; Allara, Elias E; Anufrieva, Olga O; Ohukainen, Pauli P; Oliver-Williams, Clare C; Wang, Qin Q; Tillin, Therese T; Hughes, Alun D AD; Kähönen, Mika M; Lehtimäki, Terho T; Viikari, Jorma J; Raitakari, Olli T OT; Salomaa, Veikko V; Järvelin, Marjo-Riitta MR; Perola, Markus M; Smith, George Davey GD; Chaturvedi, Nish N; Danesh, John J; Di Angelantonio, Emanuele E; Butterworth, Adam S AS; Ala-Korpela, Mika M
Publication Date: 2020-03

Variant appearance in text: rs12720922
PubMed Link: 32142508
Variant Present in the following documents:
  • Main text
  • pbio.3000694.pdf
View BVdb publication page



Mendelian randomization reveals unexpected effects of CETP on the lipoprotein profile.

European Journal Of Human Genetics : Ejhg
Blauw, Lisanne L LL; Noordam, Raymond R; Soidinsalo, Sebastian S; Blauw, C Alexander CA; Li-Gao, Ruifang R; de Mutsert, Renée R; Berbée, Jimmy F P JFP; Wang, Yanan Y; van Heemst, Diana D; Rosendaal, Frits R FR; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Würtz, Peter P; Willems van Dijk, Ko K; Rensen, Patrick C N PCN
Publication Date: 2019-03

Variant appearance in text: rs12720922
PubMed Link: 30420679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12720922
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Multiple linear combination (MLC) regression tests for common variants adapted to linkage disequilibrium structure.

Genetic Epidemiology
Yoo, Yun Joo YJ; Sun, Lei L; Poirier, Julia G JG; Paterson, Andrew D AD; Bull, Shelley B SB
Publication Date: 2017-02

Variant appearance in text: rs12720922
PubMed Link: 27885705
Variant Present in the following documents:
  • Main text
  • GEPI-41-108.pdf
View BVdb publication page



Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels.

Metabolism: Clinical And Experimental
Pirim, Dilek D; Wang, Xingbin X; Niemsiri, Vipavee V; Radwan, Zaheda H ZH; Bunker, Clareann H CH; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2016-01

Variant appearance in text: rs12720922
PubMed Link: 26683795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of established HDL-C loci for association with HDL-C levels and type 2 diabetes in Pima Indians.

Diabetologia
Nair, Anup K AK; Piaggi, Paolo P; McLean, Nellie A NA; Kaur, Manmeet M; Kobes, Sayuko S; Knowler, William C WC; Bogardus, Clifton C; Hanson, Robert L RL; Baier, Leslie J LJ
Publication Date: 2016-03

Variant appearance in text: rs12720922
PubMed Link: 26670163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs12720922
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
  • pgen.1003379.pdf
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
Asselbergs, Folkert W FW; Guo, Yiran Y; van Iperen, Erik P A EP; Sivapalaratnam, Suthesh S; Tragante, Vinicius V; Lanktree, Matthew B MB; Lange, Leslie A LA; Almoguera, Berta B; Appelman, Yolande E YE; Barnard, John J; Baumert, Jens J; Beitelshees, Amber L AL; Bhangale, Tushar R TR; Chen, Yii-Der Ida YD; Gaunt, Tom R TR; Gong, Yan Y; Hopewell, Jemma C JC; Johnson, Toby T; Kleber, Marcus E ME; Langaee, Taimour Y TY; Li, Mingyao M; Li, Yun R YR; Liu, Kiang K; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Middelberg, Rita P S RP; Musunuru, Kiran K; Nelson, Christopher P CP; O'Connell, Jeffery R JR; Padmanabhan, Sandosh S; Pankow, James S JS; Pankratz, Nathan N; Rafelt, Suzanne S; Rajagopalan, Ramakrishnan R; Romaine, Simon P R SP; Schork, Nicholas J NJ; Shaffer, Jonathan J; Shen, Haiqing H; Smith, Erin N EN; Tischfield, Sam E SE; van der Most, Peter J PJ; van Vliet-Ostaptchouk, Jana V JV; Verweij, Niek N; Volcik, Kelly A KA; Zhang, Li L; Bailey, Kent R KR; Bailey, Kristian M KM; Bauer, Florianne F; Boer, Jolanda M A JM; Braund, Peter S PS; Burt, Amber A; Burton, Paul R PR; Buxbaum, Sarah G SG; Chen, Wei W; Cooper-Dehoff, Rhonda M RM; Cupples, L Adrienne LA; deJong, Jonas S JS; Delles, Christian C; Duggan, David D; Fornage, Myriam M; Furlong, Clement E CE; Glazer, Nicole N; Gums, John G JG; Hastie, Claire C; Holmes, Michael V MV; Illig, Thomas T; Kirkland, Susan A SA; Kivimaki, Mika M; Klein, Ronald R; Klein, Barbara E BE; Kooperberg, Charles C; Kottke-Marchant, Kandice K; Kumari, Meena M; LaCroix, Andrea Z AZ; Mallela, Laya L; Murugesan, Gurunathan G; Ordovas, Jose J; Ouwehand, Willem H WH; Post, Wendy S WS; Saxena, Richa R; Scharnagl, Hubert H; Schreiner, Pamela J PJ; Shah, Tina T; Shields, Denis C DC; Shimbo, Daichi D; Srinivasan, Sathanur R SR; Stolk, Ronald P RP; Swerdlow, Daniel I DI; Taylor, Herman A HA; Topol, Eric J EJ; Toskala, Elina E; van Pelt, Joost L JL; van Setten, Jessica J; Yusuf, Salim S; Whittaker, John C JC; Zwinderman, A H AH; , ; Anand, Sonia S SS; Balmforth, Anthony J AJ; Berenson, Gerald S GS; Bezzina, Connie R CR; Boehm, Bernhard O BO; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Clarke, Robert R; Connell, John M JM; Cruickshanks, Karen J KJ; Davidson, Karina W KW; Day, Ian N M IN; de Bakker, Paul I W PI; Doevendans, Pieter A PA; Dominiczak, Anna F AF; Hall, Alistair S AS; Hartman, Catharina A CA; Hengstenberg, Christian C; Hillege, Hans L HL; Hofker, Marten H MH; Humphries, Steve E SE; Jarvik, Gail P GP; Johnson, Julie A JA; Kaess, Bernhard M BM; Kathiresan, Sekar S; Koenig, Wolfgang W; Lawlor, Debbie A DA; März, Winfried W; Melander, Olle O; Mitchell, Braxton D BD; Montgomery, Grant W GW; Munroe, Patricia B PB; Murray, Sarah S SS; Newhouse, Stephen J SJ; Onland-Moret, N Charlotte NC; Poulter, Neil N; Psaty, Bruce B; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Schunkert, Heribert H; Sever, Peter P; Shuldiner, Alan R AR; Silverstein, Roy L RL; Stanton, Alice A; Thorand, Barbara B; Trip, Mieke D MD; Tsai, Michael Y MY; van der Harst, Pim P; van der Schoot, Ellen E; van der Schouw, Yvonne T YT; Verschuren, W M Monique WM; Watkins, Hugh H; Wilde, Arthur A M AA; Wolffenbuttel, Bruce H R BH; Whitfield, John B JB; Hovingh, G Kees GK; Ballantyne, Christie M CM; Wijmenga, Cisca C; Reilly, Muredach P MP; Martin, Nicholas G NG; Wilson, James G JG; Rader, Daniel J DJ; Samani, Nilesh J NJ; Reiner, Alex P AP; Hegele, Robert A RA; Kastelein, John J P JJ; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Hakonarson, Hakon H; Elbers, Clara C CC; Keating, Brendan J BJ; Drenos, Fotios F
Publication Date: 2012-11-02

Variant appearance in text: rs12720922
PubMed Link: 23063622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke.

The American Journal Of Cardiology
Enquobahrie, Daniel A DA; Smith, Nicholas L NL; Bis, Joshua C JC; Carty, Cara L CL; Rice, Kenneth M KM; Lumley, Thomas T; Hindorff, Lucia A LA; Lemaitre, Rozenn N RN; Williams, Michelle A MA; Siscovick, David S DS; Heckbert, Susan R SR; Psaty, Bruce M BM
Publication Date: 2008-06-15

Variant appearance in text: rs12720922
PubMed Link: 18549840
Variant Present in the following documents:
  • Main text
View BVdb publication page