CETP c.233+2222A>C

Variant ID: 16-56999258-A-C

NM_000078.2(CETP):c.233+2222A>C

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: rs7203984
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
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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: rs7203984
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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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: rs7203984
PubMed Link: 32902719
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: rs7203984
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Circulation. Genomic And Precision Medicine
Khetarpal, Sumeet A SA; Babb, Paul L PL; Zhao, Wei W; Hancock-Cerutti, William F WF; Brown, Christopher D CD; Rader, Daniel J DJ; Voight, Benjamin F BF
Publication Date: 2018-07

Variant appearance in text: rs7203984
PubMed Link: 29987113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C.

Npj Aging And Mechanisms Of Disease
van Leeuwen, Elisabeth M EM; Huffman, Jennifer E JE; Bis, Joshua C JC; Isaacs, Aaron A; Mulder, Monique M; Sabo, Aniko A; Smith, Albert V AV; Demissie, Serkalem S; Manichaikul, Ani A; Brody, Jennifer A JA; Feitosa, Mary F MF; Duan, Qing Q; Schraut, Katharina E KE; Navarro, Pau P; van Vliet-Ostaptchouk, Jana V JV; Zhu, Gu G; Mbarek, Hamdi H; Trompet, Stella S; Verweij, Niek N; Lyytikäinen, Leo-Pekka LP; Deelen, Joris J; Nolte, Ilja M IM; van der Laan, Sander W SW; Davies, Gail G; Vermeij-Verdoold, Andrea Jm AJ; van Oosterhout, Andy Alj AA; Vergeer-Drop, Jeannette M JM; Arking, Dan E DE; Trochet, Holly H; , ; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Dehghan, Abbas A; Franco, Oscar H OH; Sijbrands, Eric J EJ; Hofman, Albert A; White, Charles C CC; Mychaleckyj, Josyf C JC; Peloso, Gina M GM; Swertz, Morris A MA; , ; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda Wjh BW; Ford, Ian I; Buckley, Brendan M BM; de Craen, Anton Jm AJ; Starr, John M JM; Deary, Ian J IJ; Pasterkamp, Gerard G; Oldehinkel, Albertine J AJ; Snieder, Harold H; Slagboom, P Eline PE; Nikus, Kjell K; Kähönen, Mika M; Lehtimäki, Terho T; Viikari, Jorma S JS; Raitakari, Olli T OT; van der Harst, Pim P; Jukema, J Wouter JW; Hottenga, Jouke-Jan JJ; Boomsma, Dorret I DI; Whitfield, John B JB; Montgomery, Grant G; Martin, Nicholas G NG; , ; Polasek, Ozren O; Vitart, Veronique V; Hayward, Caroline C; Kolcic, Ivana I; Wright, Alan F AF; Rudan, Igor I; Joshi, Peter K PK; Wilson, James F JF; Lange, Leslie A LA; Wilson, James G JG; Gudnason, Vilmundur V; Harris, Tamar B TB; Morrison, Alanna C AC; Borecki, Ingrid B IB; Rich, Stephen S SS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Rotter, Jerome I JI; Smith, Blair H BH; Boerwinkle, Eric E; Cupples, L Adrienne LA; van Duijn, Cornelia C
Publication Date: 2015

Variant appearance in text: rs7203984
PubMed Link: 28721259
Variant Present in the following documents:
  • Main text
  • npjamd201511.pdf
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c.*84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians.

Plos One
Ganesan, Mala M; Nizamuddin, Sheikh S; Katkam, Shiva Krishna SK; Kumaraswami, Konda K; Hosad, Uday Kumar UK; Lobo, Limmy Loret LL; Kutala, Vijay Kumar VK; Thangaraj, Kumarasamy K
Publication Date: 2016

Variant appearance in text: rs7203984
PubMed Link: 27768712
Variant Present in the following documents:
  • Main text
  • pone.0164151.pdf
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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: rs7203984
PubMed Link: 26683795
Variant Present in the following documents:
  • Main text
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Association between CETP, MLXIPL, and TOMM40 polymorphisms and serum lipid levels in a Latvian population.

Meta Gene
Radovica, I I; Fridmanis, D D; Silamikelis, I I; Nikitina-Zake, L L; Klovins, J J
Publication Date: 2014-12

Variant appearance in text: rs7203984
PubMed Link: 25606439
Variant Present in the following documents:
  • Main text
  • main.pdf
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A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave.

Plos One
Lamina, Claudia C; Haun, Margot M; Coassin, Stefan S; Kloss-Brandstätter, Anita A; Gieger, Christian C; Peters, Annette A; Grallert, Harald H; Strauch, Konstantin K; Meitinger, Thomas T; Kedenko, Lyudmyla L; Paulweber, Bernhard B; Kronenberg, Florian F
Publication Date: 2014

Variant appearance in text: rs7203984
PubMed Link: 25050552
Variant Present in the following documents:
  • Main text
  • pone.0102113.pdf
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The association of common SNPs and haplotypes in CETP gene with HDL cholesterol levels in Latvian population.

Plos One
Radovica, Ilze I; Fridmanis, Davids D; Vaivade, Iveta I; Nikitina-Zake, Liene L; Klovins, Janis J
Publication Date: 2013

Variant appearance in text: rs7203984
PubMed Link: 23675527
Variant Present in the following documents:
  • Main text
  • pone.0064191.pdf
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An assessment of CETP sequence variation in relation to cognitive decline and dementia risk.

International Journal Of Molecular Epidemiology And Genetics
Reynolds, Chandra A CA; Gatz, Margaret M; Pedersen, Nancy L NL; Prince, Jonathan A JA
Publication Date: 2011

Variant appearance in text: rs7203984
PubMed Link: 21686126
Variant Present in the following documents:
  • Main text
View BVdb publication page



Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

Human Genetics
Hong, Mun-Gwan MG; Pawitan, Yudi Y; Magnusson, Patrik K E PK; Prince, Jonathan A JA
Publication Date: 2009-08

Variant appearance in text: rs7203984
PubMed Link: 19408013
Variant Present in the following documents:
  • Main text
View BVdb publication page