APOH c.973T>C ;(p.C325R)

Variant ID: 17-64210580-A-G

NM_000042.2(APOH):c.973T>C;(p.C325R)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science
Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J
Publication Date: 2023-06

Variant appearance in text: rs1801689
PubMed Link: 36909148
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multiomics study of nonalcoholic fatty liver disease.

Nature Genetics
Sveinbjornsson, Gardar G; Ulfarsson, Magnus O MO; Thorolfsdottir, Rosa B RB; Jonsson, Benedikt A BA; Einarsson, Eythor E; Gunnlaugsson, Gylfi G; Rognvaldsson, Solvi S; Arnar, David O DO; Baldvinsson, Magnus M; Bjarnason, Ragnar G RG; , ; Eiriksdottir, Thjodbjorg T; Erikstrup, Christian C; Ferkingstad, Egil E; Halldorsson, Gisli H GH; Helgason, Hannes H; Helgadottir, Anna A; Hindhede, Lotte L; Hjorleifsson, Grimur G; Jones, David D; Knowlton, Kirk U KU; Lund, Sigrun H SH; Melsted, Pall P; Norland, Kristjan K; Olafsson, Isleifur I; Olafsson, Sigurdur S; Oskarsson, Gudjon R GR; Ostrowski, Sisse Rye SR; Pedersen, Ole Birger OB; Snaebjarnarson, Auðunn S AS; Sigurdsson, Emil E; Steinthorsdottir, Valgerdur V; Schwinn, Michael M; Thorgeirsson, Gudmundur G; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Bundgaard, Henning H; Nadauld, Lincoln L; Bjornsson, Einar S ES; Rulifson, Ingrid C IC; Rafnar, Thorunn T; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K
Publication Date: 2022-11

Variant appearance in text: rs1801689
PubMed Link: 36280732
Variant Present in the following documents:
  • 41588_2022_1199_MOESM3_ESM.pdf
View BVdb publication page



Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association
Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS
Publication Date: 2022-06-21

Variant appearance in text: rs1801689
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
View BVdb publication page



Circulating free testosterone and risk of aggressive prostate cancer: Prospective and Mendelian randomisation analyses in international consortia.

International Journal Of Cancer
Watts, Eleanor L EL; Perez-Cornago, Aurora A; Fensom, Georgina K GK; Smith-Byrne, Karl K; Noor, Urwah U; Andrews, Colm D CD; Gunter, Marc J MJ; Holmes, Michael V MV; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Barricarte, Aurelio A; Bueno-de-Mesquita, Bas B; Chen, Chu C; Cohn, Barbara A BA; Dimou, Niki L NL; Ferrucci, Luigi L; Flicker, Leon L; Freedman, Neal D ND; Giles, Graham G GG; Giovannucci, Edward L EL; Goodman, Gary E GE; Haiman, Christopher A CA; Hankey, Graeme J GJ; Huang, Jiaqi J; Huang, Wen-Yi WY; Hurwitz, Lauren M LM; Kaaks, Rudolf R; Knekt, Paul P; Kubo, Tatsuhiko T; Langseth, Hilde H; Laughlin, Gail G; Le Marchand, Loic L; Luostarinen, Tapio T; MacInnis, Robert J RJ; Mäenpää, Hanna O HO; Männistö, Satu S; Metter, E Jeffrey EJ; Mikami, Kazuya K; Mucci, Lorelei A LA; Olsen, Anja W AW; Ozasa, Kotaro K; Palli, Domenico D; Penney, Kathryn L KL; Platz, Elizabeth A EA; Rissanen, Harri H; Sawada, Norie N; Schenk, Jeannette M JM; Stattin, Pär P; Tamakoshi, Akiko A; Thysell, Elin E; Tsai, Chiaojung Jillian CJ; Tsugane, Shoichiro S; Vatten, Lars L; Weiderpass, Elisabete E; Weinstein, Stephanie J SJ; Wilkens, Lynne R LR; Yeap, Bu B BB; , ; , ; , ; , ; , ; Allen, Naomi E NE; Key, Timothy J TJ; Travis, Ruth C RC
Publication Date: 2022-10-01

Variant appearance in text: rs1801689
PubMed Link: 35579976
Variant Present in the following documents:
  • IJC-151-1033-s001.pdf
View BVdb publication page



Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Investigative Ophthalmology & Visual Science
Seddon, Johanna M JM; Widjajahakim, Rafael R; Rosner, Bernard B
Publication Date: 2020-12-01

Variant appearance in text: rs1801689
PubMed Link: 33369641
Variant Present in the following documents:
  • iovs-61-14-32_s004.pdf
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs1801689
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs1801689
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Investigative Ophthalmology & Visual Science
Merle, Bénédicte M J BMJ; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2020-05-11

Variant appearance in text: rs1801689
PubMed Link: 32407518
Variant Present in the following documents:
  • Main text
  • iovs-61-5-17.pdf
View BVdb publication page



Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs1801689
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page



Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs1801689
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
View BVdb publication page



Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics
Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I
Publication Date: 2019

Variant appearance in text: rs1801689
PubMed Link: 31134135
Variant Present in the following documents:
  • Main text
View BVdb publication page



Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs1801689
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
View BVdb publication page



Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

American Journal Of Ophthalmology
Seddon, Johanna M JM; Rosner, Bernard B
Publication Date: 2019-02

Variant appearance in text: rs1801689
PubMed Link: 30389371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Jama Cardiology
Lotta, Luca A LA; Stewart, Isobel D ID; Sharp, Stephen J SJ; Day, Felix R FR; Burgess, Stephen S; Luan, Jian'an J; Bowker, Nicholas N; Cai, Lina L; Li, Chen C; Wittemans, Laura B L LBL; Kerrison, Nicola D ND; Khaw, Kay-Tee KT; McCarthy, Mark I MI; O'Rahilly, Stephen S; Scott, Robert A RA; Savage, David B DB; Perry, John R B JRB; Langenberg, Claudia C; Wareham, Nicholas J NJ
Publication Date: 2018-10-01

Variant appearance in text: rs1801689
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: APOH: 973T>C; Cys325Arg; rs1801689
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 5
View BVdb publication page



Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics
Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I
Publication Date: 2018-05-30

Variant appearance in text: rs1801689
PubMed Link: 29843651
Variant Present in the following documents:
  • 12881_2018_608_MOESM1_ESM.pdf
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V
Publication Date: 2017-06-02

Variant appearance in text: rs1801689
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
Bomba, Lorenzo L; Walter, Klaudia K; Soranzo, Nicole N
Publication Date: 2017-04-27

Variant appearance in text: rs1801689
PubMed Link: 28449691
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1212.pdf
View BVdb publication page



Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.

Human Molecular Genetics
Yu, Yi Y; Wagner, Erin K EK; Souied, Eric H EH; Seitsonen, Sanna S; Immonen, Ilkka J IJ; Häppölä, Paavo P; Raychaudhuri, Soumya S; Daly, Mark J MJ; Seddon, Johanna M JM
Publication Date: 2016-12-01

Variant appearance in text: APOH: C325R; rs1801689
PubMed Link: 28011711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of genetic variants for adult lipid levels with lipid levels in children. The Generation R Study.

Journal Of Lipid Research
Latsuzbaia, Ardashel A; Jaddoe, Vincent W V VWV; Hofman, Albert A; Franco, Oscar H OH; Felix, Janine F JF
Publication Date: 2016-12

Variant appearance in text: rs1801689
PubMed Link: 27777320
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

Nature Genetics
Iotchkova, Valentina V; Huang, Jie J; Morris, John A JA; Jain, Deepti D; Barbieri, Caterina C; Walter, Klaudia K; Min, Josine L JL; Chen, Lu L; Astle, William W; Cocca, Massimilian M; Deelen, Patrick P; Elding, Heather H; Farmaki, Aliki-Eleni AE; Franklin, Christopher S CS; Franberg, Mattias M; Gaunt, Tom R TR; Hofman, Albert A; Jiang, Tao T; Kleber, Marcus E ME; Lachance, Genevieve G; Luan, Jian'an J; Malerba, Giovanni G; Matchan, Angela A; Mead, Daniel D; Memari, Yasin Y; Ntalla, Ioanna I; Panoutsopoulou, Kalliope K; Pazoki, Raha R; Perry, John R B JRB; Rivadeneira, Fernando F; Sabater-Lleal, Maria M; Sennblad, Bengt B; Shin, So-Youn SY; Southam, Lorraine L; Traglia, Michela M; van Dijk, Freerk F; van Leeuwen, Elisabeth M EM; Zaza, Gianluigi G; Zhang, Weihua W; , ; Amin, Najaf N; Butterworth, Adam A; Chambers, John C JC; Dedoussis, George G; Dehghan, Abbas A; Franco, Oscar H OH; Franke, Lude L; Frontini, Mattia M; Gambaro, Giovanni G; Gasparini, Paolo P; Hamsten, Anders A; Issacs, Aaron A; Kooner, Jaspal S JS; Kooperberg, Charles C; Langenberg, Claudia C; Marz, Winfried W; Scott, Robert A RA; Swertz, Morris A MA; Toniolo, Daniela D; Uitterlinden, Andre G AG; van Duijn, Cornelia M CM; Watkins, Hugh H; Zeggini, Eleftheria E; Maurano, Mathew T MT; Timpson, Nicholas J NJ; Reiner, Alexander P AP; Auer, Paul L PL; Soranzo, Nicole N
Publication Date: 2016-11

Variant appearance in text: APOH: Cys325Arg; rs1801689
PubMed Link: 27668658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics
Eicher, John D JD; Chami, Nathalie N; Kacprowski, Tim T; Nomura, Akihiro A; Chen, Ming-Huei MH; Yanek, Lisa R LR; Tajuddin, Salman M SM; Schick, Ursula M UM; Slater, Andrew J AJ; Pankratz, Nathan N; Polfus, Linda L; Schurmann, Claudia C; Giri, Ayush A; Brody, Jennifer A JA; Lange, Leslie A LA; Manichaikul, Ani A; Hill, W David WD; Pazoki, Raha R; Elliot, Paul P; Evangelou, Evangelos E; Tzoulaki, Ioanna I; Gao, He H; Vergnaud, Anne-Claire AC; Mathias, Rasika A RA; Becker, Diane M DM; Becker, Lewis C LC; Burt, Amber A; Crosslin, David R DR; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Hernesniemi, Jussi J; Kähönen, Mika M; Raitoharju, Emma E; Mononen, Nina N; Raitakari, Olli T OT; Lehtimäki, Terho T; Cushman, Mary M; Zakai, Neil A NA; Nickerson, Deborah A DA; Raffield, Laura M LM; Quarells, Rakale R; Willer, Cristen J CJ; Peloso, Gina M GM; Abecasis, Goncalo R GR; Liu, Dajiang J DJ; , ; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; , ; , ; Fornage, Myriam M; Richard, Melissa M; Tardif, Jean-Claude JC; Rioux, John D JD; Dube, Marie-Pierre MP; de Denus, Simon S; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Smith, Albert Vernon AV; Harris, Tamara B TB; Launer, Lenore J LJ; Gudnason, Vilmundur V; Velez Edwards, Digna R DR; Torstenson, Eric S ES; Liu, Yongmei Y; Tracy, Russell P RP; Rotter, Jerome I JI; Rich, Stephen S SS; Highland, Heather M HM; Boerwinkle, Eric E; Li, Jin J; Lange, Ethan E; Wilson, James G JG; Mihailov, Evelin E; Mägi, Reedik R; Hirschhorn, Joel J; Metspalu, Andres A; Esko, Tõnu T; Vacchi-Suzzi, Caterina C; Nalls, Mike A MA; Zonderman, Alan B AB; Evans, Michele K MK; Engström, Gunnar G; Orho-Melander, Marju M; Melander, Olle O; O'Donoghue, Michelle L ML; Waterworth, Dawn M DM; Wallentin, Lars L; White, Harvey D HD; Floyd, James S JS; Bartz, Traci M TM; Rice, Kenneth M KM; Psaty, Bruce M BM; Starr, J M JM; Liewald, David C M DC; Hayward, Caroline C; Deary, Ian J IJ; Greinacher, Andreas A; Völker, Uwe U; Thiele, Thomas T; Völzke, Henry H; van Rooij, Frank J A FJ; Uitterlinden, André G AG; Franco, Oscar H OH; Dehghan, Abbas A; Edwards, Todd L TL; Ganesh, Santhi K SK; Kathiresan, Sekar S; Faraday, Nauder N; Auer, Paul L PL; Reiner, Alex P AP; Lettre, Guillaume G; Johnson, Andrew D AD
Publication Date: 2016-07-07

Variant appearance in text: rs1801689
PubMed Link: 27346686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood lipids and prostate cancer: a Mendelian randomization analysis.

Cancer Medicine
Bull, Caroline J CJ; Bonilla, Carolina C; Holly, Jeff M P JM; Perks, Claire M CM; Davies, Neil N; Haycock, Philip P; Yu, Oriana Hoi Yun OH; Richards, J Brent JB; Eeles, Rosalind R; Easton, Doug D; Kote-Jarai, Zsofia Z; Amin Al Olama, Ali A; Benlloch, Sara S; Muir, Kenneth K; Giles, Graham G GG; MacInnis, Robert J RJ; Wiklund, Fredrik F; Gronberg, Henrik H; Haiman, Christopher A CA; Schleutker, Johanna J; Nordestgaard, Børge G BG; Travis, Ruth C RC; Neal, David D; Pashayan, Nora N; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Brenner, Hermann H; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Micheal, Agnieszka A; Pandha, Hardev H; Smith, George Davey GD; Lewis, Sarah J SJ; Martin, Richard M RM; ,
Publication Date: 2016-06

Variant appearance in text: rs1801689
PubMed Link: 26992435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of IL28B, APOH and ITPA Polymorphisms on Efficacy and Safety of TVR- or BOC-Based Triple Therapy in Treatment-Experienced HCV-1 Patients with Compensated Cirrhosis from the ANRS CO20-CUPIC Study.

Plos One
About, Frédégonde F; Oudot-Mellakh, Tiphaine T; Niay, Jonathan J; Rabiéga, Pascaline P; Pedergnana, Vincent V; Duffy, Darragh D; Sultanik, Philippe P; Cagnot, Carole C; Carrat, Fabrice F; Marcellin, Patrick P; Zoulim, Fabien F; Larrey, Dominique D; Hézode, Christophe C; Fontaine, Hélène H; Bronowicki, Jean-Pierre JP; Pol, Stanislas S; Albert, Matthew L ML; Theodorou, Ioannis I; Cobat, Aurélie A; Abel, Laurent L; ,
Publication Date: 2015

Variant appearance in text: rs1801689
PubMed Link: 26670100
Variant Present in the following documents:
  • Main text
  • pone.0145105.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1801689
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

Nature Communications
van Leeuwen, Elisabeth M EM; Karssen, Lennart C LC; Deelen, Joris J; Isaacs, Aaron A; Medina-Gomez, Carolina C; Mbarek, Hamdi H; Kanterakis, Alexandros A; Trompet, Stella S; Postmus, Iris I; Verweij, Niek N; van Enckevort, David J DJ; Huffman, Jennifer E JE; White, Charles C CC; Feitosa, Mary F MF; Bartz, Traci M TM; Manichaikul, Ani A; Joshi, Peter K PK; Peloso, Gina M GM; Deelen, Patrick P; van Dijk, Freerk F; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Francioli, Laurent C LC; Menelaou, Androniki A; Pulit, Sara L SL; Rivadeneira, Fernando F; Hofman, Albert A; Oostra, Ben A BA; Franco, Oscar H OH; Mateo Leach, Irene I; Beekman, Marian M; de Craen, Anton J M AJ; Uh, Hae-Won HW; Trochet, Holly H; Hocking, Lynne J LJ; Porteous, David J DJ; Sattar, Naveed N; Packard, Chris J CJ; Buckley, Brendan M BM; Brody, Jennifer A JA; Bis, Joshua C JC; Rotter, Jerome I JI; Mychaleckyj, Josyf C JC; Campbell, Harry H; Duan, Qing Q; Lange, Leslie A LA; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Vitart, Veronique V; Rudan, Igor I; Wright, Alan F AF; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Kearney, Patricia M PM; Stott, David J DJ; Adrienne Cupples, L L; , ; Jukema, J Wouter JW; van der Harst, Pim P; Sijbrands, Eric J EJ; Hottenga, Jouke-Jan JJ; Uitterlinden, Andre G AG; Swertz, Morris A MA; van Ommen, Gert-Jan B GJ; de Bakker, Paul I W PI; Eline Slagboom, P P; Boomsma, Dorret I DI; Wijmenga, Cisca C; van Duijn, Cornelia M CM
Publication Date: 2015-03-09

Variant appearance in text: rs1801689
PubMed Link: 25751400
Variant Present in the following documents:
  • ncomms7065-s1.pdf
View BVdb publication page



Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs1801689
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs1801689
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program.

Atherosclerosis
Simino, Jeannette J; Kume, Rezart R; Kraja, Aldi T AT; Turner, Stephen T ST; Hanis, Craig L CL; Sheu, Wayne W; Chen, Ida I; Jaquish, Cashell C; Cooper, Richard S RS; Chakravarti, Aravinda A; Quertermous, Thomas T; Boerwinkle, Eric E; Hunt, Steven C SC; Rao, D C DC
Publication Date: 2014-07

Variant appearance in text: rs1801689
PubMed Link: 24819747
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
Elbers, Clara C CC; Guo, Yiran Y; Tragante, Vinicius V; van Iperen, Erik P A EP; Lanktree, Matthew B MB; Castillo, Berta Almoguera BA; Chen, Fang F; Yanek, Lisa R LR; Wojczynski, Mary K MK; Li, Yun R YR; Ferwerda, Bart B; Ballantyne, Christie M CM; Buxbaum, Sarah G SG; Chen, Yii-Der Ida YD; Chen, Wei-Min WM; Cupples, L Adrienne LA; Cushman, Mary M; Duan, Yanan Y; Duggan, David D; Evans, Michele K MK; Fernandes, Jyotika K JK; Fornage, Myriam M; Garcia, Melissa M; Garvey, W Timothy WT; Glazer, Nicole N; Gomez, Felicia F; Harris, Tamara B TB; Halder, Indrani I; Howard, Virginia J VJ; Keller, Margaux F MF; Kamboh, M Ilyas MI; Kooperberg, Charles C; Kritchevsky, Stephen B SB; LaCroix, Andrea A; Liu, Kiang K; Liu, Yongmei Y; Musunuru, Kiran K; Newman, Anne B AB; Onland-Moret, N Charlotte NC; Ordovas, Jose J; Peter, Inga I; Post, Wendy W; Redline, Susan S; Reis, Steven E SE; Saxena, Richa R; Schreiner, Pamela J PJ; Volcik, Kelly A KA; Wang, Xingbin X; Yusuf, Salim S; Zonderland, Alan B AB; Anand, Sonia S SS; Becker, Diane M DM; Psaty, Bruce B; Rader, Daniel J DJ; Reiner, Alex P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Sale, Michèle M MM; Tsai, Michael Y MY; Borecki, Ingrid B IB; Hegele, Robert A RA; Kathiresan, Sekar S; Nalls, Michael A MA; Taylor, Herman A HA; Hakonarson, Hakon H; Sivapalaratnam, Suthesh S; Asselbergs, Folkert W FW; Drenos, Fotios F; Wilson, James G JG; Keating, Brendan J BJ
Publication Date: 2012

Variant appearance in text: rs1801689
PubMed Link: 23236364
Variant Present in the following documents:
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  • pone.0050198.pdf
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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: rs1801689
PubMed Link: 23063622
Variant Present in the following documents:
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Functional and genetic characterization of the promoter region of apolipoprotein H (beta2-glycoprotein I).

The Febs Journal
Suresh, Sangita S; Demirci, F Yesim FY; Lefterov, Iliya I; Kammerer, Candace M CM; Ramsey-Goldman, Rosalind R; Manzi, Susan S; Kamboh, M Ilyas MI
Publication Date: 2010-02

Variant appearance in text: rs1801689
PubMed Link: 20089041
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Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

Plos Genetics
Chasman, Daniel I DI; Paré, Guillaume G; Mora, Samia S; Hopewell, Jemma C JC; Peloso, Gina G; Clarke, Robert R; Cupples, L Adrienne LA; Hamsten, Anders A; Kathiresan, Sekar S; Mälarstig, Anders A; Ordovas, José M JM; Ripatti, Samuli S; Parker, Alex N AN; Miletich, Joseph P JP; Ridker, Paul M PM
Publication Date: 2009-11

Variant appearance in text: rs1801689
PubMed Link: 19936222
Variant Present in the following documents:
  • Main text
  • pgen.1000730.pdf
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