CETP c.*84G>A

Variant ID: 16-57017662-G-A

NM_000078.2(CETP):c.*84G>A

This variant was identified in 28 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs1801706
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.

Frontiers In Genetics
Kim, Serim S; Seo, Jong Do JD; Yun, Yeo-Min YM; Kim, Hanah H; Kim, Tae-Eun TE; Lee, Taeheon T; Lee, Tae-Rim TR; Lee, Jun Hyung JH; Cho, Eun-Hae EH; Ki, Chang-Seok CS
Publication Date: 2022

Variant appearance in text: rs1801706
PubMed Link: 35664336
Variant Present in the following documents:
  • DataSheet1.pdf
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: rs1801706
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs1801706
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs1801706
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: rs1801706
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs1801706
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs1801706
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1801706
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

F1000Research
Palacio Rojas, Marcos M; Prieto, Carem C; Bermúdez, Valmore V; Garicano, Carlos C; Núñez Nava, Trina T; Martínez, María Sofía MS; Salazar, Juan J; Rojas, Edward E; Pérez, Arturo A; Marca Vicuña, Paulo P; González Martínez, Natalia N; Maldonado Parra, Santiago S; Hoedebecke, Kyle K; D'Addosio, Rosanna R; Cano, Clímaco C; Rojas, Joselyn J
Publication Date: 2017

Variant appearance in text: rs1801706
PubMed Link: 30345000
Variant Present in the following documents:
  • Main text
  • f1000research-6-17787.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1801706
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
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: rs1801706
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: rs1801706
PubMed Link: 29987113
Variant Present in the following documents:
  • Main text
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs1801706
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 3
View BVdb publication page



Genetic variations of cholesteryl ester transfer protein and diet interactions in relation to lipid profiles and coronary heart disease: a systematic review.

Nutrition & Metabolism
Mirmiran, Parvin P; Esfandiar, Zohre Z; Hosseini-Esfahani, Firoozeh F; Koochakpoor, Gelareh G; Daneshpour, Maryam S MS; Sedaghati-Khayat, Bahar B; Azizi, Fereidoun F
Publication Date: 2017

Variant appearance in text: rs1801706
PubMed Link: 29234452
Variant Present in the following documents:
  • Main text
  • 12986_2017_Article_231.pdf
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: rs1801706
PubMed Link: 28721259
Variant Present in the following documents:
  • Main text
  • npjamd201511.pdf
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs1801706
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, 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: rs1801706
PubMed Link: 27885705
Variant Present in the following documents:
  • Main text
  • GEPI-41-108.pdf
View BVdb publication page



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: rs1801706
PubMed Link: 27768712
Variant Present in the following documents:
  • Main text
  • pone.0164151.pdf
View BVdb publication page



Association between Eight Functional Polymorphisms and Haplotypes in the Cholesterol Ester Transfer Protein (CETP) Gene and Dyslipidemia in National Minority Adults in the Far West Region of China.

International Journal Of Environmental Research And Public Health
Guo, Shuxia S; Hu, Yunhua Y; Ding, Yusong Y; Liu, Jiaming J; Zhang, Mei M; Ma, Rulin R; Guo, Heng H; Wang, Kui K; He, Jia J; Yan, Yizhong Y; Rui, Dongsheng D; Sun, Feng F; Mu, Lati L; Niu, Qiang Q; Zhang, Jingyu J; Li, Shugang S
Publication Date: 2015-12-16

Variant appearance in text: rs1801706
PubMed Link: 26694435
Variant Present in the following documents:
  • Main text
  • ijerph-12-15036.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: rs1801706
PubMed Link: 26683795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1801706
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1801706
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
Publication Date: 2012

Variant appearance in text: rs1801706
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cholesteryl Ester Transfer Protein (CETP) polymorphisms affect mRNA splicing, HDL levels, and sex-dependent cardiovascular risk.

Plos One
Papp, Audrey C AC; Pinsonneault, Julia K JK; Wang, Danxin D; Newman, Leslie C LC; Gong, Yan Y; Johnson, Julie A JA; Pepine, Carl J CJ; Kumari, Meena M; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Shah, Sonia S; Humphries, Steve E SE; Sadee, Wolfgang W
Publication Date: 2012

Variant appearance in text: rs1801706
PubMed Link: 22403620
Variant Present in the following documents:
  • Main text
  • pone.0031930.pdf
View BVdb publication page



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: rs1801706
PubMed Link: 22229114
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1801706
PubMed Link: 21686126
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: rs1801706
PubMed Link: 15606997
Variant Present in the following documents:
  • Main text
  • 1479-7364-1-6-421.pdf
View BVdb publication page