CETP c.750+383A>G

Variant ID: 16-57006378-A-G

NM_000078.2(CETP):c.750+383A>G

This variant was identified in 17 publications

View GRCh38 version.




Publications:


A Polynesian-specific missense CETP variant alters the lipid profile.

Hgg Advances
Moors, Jaye J; Krishnan, Mohanraj M; Sumpter, Nick N; Takei, Riku R; Bixley, Matt M; Cadzow, Murray M; Major, Tanya J TJ; Phipps-Green, Amanda A; Topless, Ruth R; Merriman, Marilyn M; Rutledge, Malcolm M; Morgan, Ben B; Carlson, Jenna C JC; Zhang, Jerry Z JZ; Russell, Emily M EM; Sun, Guangyun G; Cheng, Hong H; Weeks, Daniel E DE; Naseri, Take T; Reupena, Muagututi'a Sefuiva MS; Viali, Satupa'itea S; Tuitele, John J; Hawley, Nicola L NL; Deka, Ranjan R; McGarvey, Stephen T ST; de Zoysa, Janak J; Murphy, Rinki R; Dalbeth, Nicola N; Stamp, Lisa L; Taumoepeau, Mele M; King, Frances F; Wilcox, Phillip P; Rapana, Nuku N; McCormick, Sally S; Minster, Ryan L RL; Merriman, Tony R TR; Leask, Megan M
Publication Date: 2023-07-13

Variant appearance in text: rs11076175
PubMed Link: 37250494
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



The Role of Calcium, 25-Hydroxyvitamin D, and Parathyroid Hormone in Irritable Bowel Syndrome: A Bidirectional Two-Sample Mendelian Randomization Study.

Nutrients
Xie, Ning N; Xie, Jiale J; Wang, Ziwei Z; Shu, Qiuai Q; Shi, Haitao H; Wang, Jinhai J; Liu, Na N; Xu, Feng F; Wu, Jian J
Publication Date: 2022-12-01

Variant appearance in text: rs11076175
PubMed Link: 36501135
Variant Present in the following documents:
  • Main text
  • nutrients-14-05109.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: rs11076175
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: rs11076175
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: rs11076175
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.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: rs11076175
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: rs11076175
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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: rs11076175
PubMed Link: 28721259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs11076175
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

Nature Communications
Kettunen, Johannes J; Demirkan, Ayşe A; Würtz, Peter P; Draisma, Harmen H M HH; Haller, Toomas T; Rawal, Rajesh R; Vaarhorst, Anika A; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Pirinen, Matti M; Pool, René R; Sarin, Antti-Pekka AP; Soininen, Pasi P; Tukiainen, Taru T; Wang, Qin Q; Tiainen, Mika M; Tynkkynen, Tuulia T; Amin, Najaf N; Zeller, Tanja T; Beekman, Marian M; Deelen, Joris J; van Dijk, Ko Willems KW; Esko, Tõnu T; Hottenga, Jouke-Jan JJ; van Leeuwen, Elisabeth M EM; Lehtimäki, Terho T; Mihailov, Evelin E; Rose, Richard J RJ; de Craen, Anton J M AJ; Gieger, Christian C; Kähönen, Mika M; Perola, Markus M; Blankenberg, Stefan S; Savolainen, Markku J MJ; Verhoeven, Aswin A; Viikari, Jorma J; Willemsen, Gonneke G; Boomsma, Dorret I DI; van Duijn, Cornelia M CM; Eriksson, Johan J; Jula, Antti A; Järvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Metspalu, Andres A; Raitakari, Olli O; Salomaa, Veikko V; Slagboom, P Eline PE; Waldenberger, Melanie M; Ripatti, Samuli S; Ala-Korpela, Mika M
Publication Date: 2016-03-23

Variant appearance in text: rs11076175
PubMed Link: 27005778
Variant Present in the following documents:
  • ncomms11122-s1.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: rs11076175
PubMed Link: 26683795
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians.

Plos One
Shim, Heejung H; Chasman, Daniel I DI; Smith, Joshua D JD; Mora, Samia S; Ridker, Paul M PM; Nickerson, Deborah A DA; Krauss, Ronald M RM; Stephens, Matthew M
Publication Date: 2015

Variant appearance in text: rs11076175
PubMed Link: 25898129
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11076175
PubMed Link: 25606439
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: rs11076175
PubMed Link: 23675527
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: rs11076175
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
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Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology
Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL
Publication Date: 2011-07-10

Variant appearance in text: rs11076175
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Application of pooled genotyping to scan candidate regions for association with HDL cholesterol levels.

Human Genomics
Hinds, David A DA; Seymour, Albert B AB; Durham, L Kathryn LK; Banerjee, Poulabi P; Ballinger, Dennis G DG; Milos, Patrice M PM; Cox, David R DR; Thompson, John F JF; Frazer, Kelly A KA
Publication Date: 2004-11

Variant appearance in text: rs11076175
PubMed Link: 15606997
Variant Present in the following documents:
  • Main text
  • 1479-7364-1-6-421.pdf
View BVdb publication page