Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PCSK9: 158C>G; Ala53Gly
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
PCSK9 loss of function is protective against extra-coronary atherosclerotic cardiovascular disease in a large multi-ethnic cohort.
Plos One
Small, Aeron M AM; Huffman, Jennifer E JE; Klarin, Derek D; Lynch, Julie A JA; Assimes, Themistocles T; DuVall, Scott S; Sun, Yan V YV; Shere, Labiba L; Natarajan, Pradeep P; Gaziano, Michael M; Rader, Daniel J DJ; Wilson, Peter W F PWF; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Casas, Juan P JP; Damrauer, Scott M SM; ,
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: PCSK9: 158C>G; Ala53Gly
Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.
Frontiers In Genetics
da Silva Francisco Junior, Ronaldo R; Dos Santos Ferreira, Cristina C; Santos E Silva, Juan Carlo JC; Terra Machado, Douglas D; Côrtes Martins, Yasmmin Y; Ramos, Victor V; Simões Carnivali, Gustavo G; Garcia, Ana Beatriz AB; Medina-Acosta, Enrique E
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
Bmc Cardiovascular Disorders
Schmidt, Amand F AF; Holmes, Michael V MV; Preiss, David D; Swerdlow, Daniel I DI; Denaxas, Spiros S; Fatemifar, Ghazaleh G; Faraway, Rupert R; Finan, Chris C; Valentine, Dennis D; Fairhurst-Hunter, Zammy Z; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hypponen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, Kees K; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Lill, Christina M CM; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert A RA; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Jess, Tine T; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Lester, Kirchner H KH; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; Scott, Rodney R; Schofield, Peter P; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, D O DO; , ; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Meade, Tom T; Christophersen, Ingrid E IE; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Roussel, Ronan R; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Hopewell, Jemma C JC; Seshadri, Sudha S; , ; Dale, Caroline C; Costa, Rui Providencia E RPE; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Ritchie, Marylyn D MD; Lange, Leslie A LA; Cornish, Alex J AJ; Dobbins, Sara E SE; Hemminki, Kari K; Kinnersley, Ben B; Sanson, Marc M; Labreche, Karim K; Simon, Matthias M; Bondy, Melissa M; Law, Philip P; Speedy, Helen H; Allan, James J; Li, Ni N; Went, Molly M; Weinhold, Niels N; Morgan, Gareth G; Sonneveld, Pieter P; Nilsson, Björn B; Goldschmidt, Hartmut H; Sud, Amit A; Engert, Andreas A; Hansson, Markus M; Hemingway, Harry H; Asselbergs, Folkert W FW; Patel, Riyaz S RS; Keating, Brendan J BJ; Sattar, Naveed N; Houlston, Richard R; Casas, Juan P JP; Hingorani, Aroon D AD
A Genetic Approach to the Association Between PCSK9 and Sepsis.
Jama Network Open
Feng, QiPing Q; Wei, Wei-Qi WQ; Chaugai, Sandip S; Carranza Leon, Barbara G BG; Kawai, Vivian V; Carranza Leon, Daniel A DA; Jiang, Lan L; Zhong, Xue X; Liu, Ge G; Ihegword, Andrea A; Shaffer, Christian M CM; Linton, MacRae F MF; Chung, Cecilia P CP; Stein, C Michael CM
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
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
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
The Lancet. Diabetes & Endocrinology
Schmidt, Amand F AF; Swerdlow, Daniel I DI; Holmes, Michael V MV; Patel, Riyaz S RS; Fairhurst-Hunter, Zammy Z; Lyall, Donald M DM; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hyppönen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, G Kees GK; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Liu, Tian T; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert R; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Husemoen, Lise Lotte Nystrup LL; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Simonsen, Kenneth Starup KS; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Kirchner, H Lester HL; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, Dennis O DO; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Smith, Daniel J DJ; Meade, Tom T; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Balkau, Beverley B; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Lange, Leslie A LA; Ritchie, Marylyn D MD; Asselbergs, Folkert W FW; Casas, Juan-Pablo JP; Keating, Brendan J BJ; Preiss, David D; Hingorani, Aroon D AD; , ; Sattar, Naveed N
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
Nature Communications
Postmus, Iris I; Trompet, Stella S; Deshmukh, Harshal A HA; Barnes, Michael R MR; Li, Xiaohui X; Warren, Helen R HR; Chasman, Daniel I DI; Zhou, Kaixin K; Arsenault, Benoit J BJ; Donnelly, Louise A LA; Wiggins, Kerri L KL; Avery, Christy L CL; Griffin, Paula P; Feng, QiPing Q; Taylor, Kent D KD; Li, Guo G; Evans, Daniel S DS; Smith, Albert V AV; de Keyser, Catherine E CE; Johnson, Andrew D AD; de Craen, Anton J M AJ; Stott, David J DJ; Buckley, Brendan M BM; Ford, Ian I; Westendorp, Rudi G J RG; Slagboom, P Eline PE; Sattar, Naveed N; Munroe, Patricia B PB; Sever, Peter P; Poulter, Neil N; Stanton, Alice A; Shields, Denis C DC; O'Brien, Eoin E; Shaw-Hawkins, Sue S; Chen, Y-D Ida YD; Nickerson, Deborah A DA; Smith, Joshua D JD; Dubé, Marie Pierre MP; Boekholdt, S Matthijs SM; Hovingh, G Kees GK; Kastelein, John J P JJ; McKeigue, Paul M PM; Betteridge, John J; Neil, Andrew A; Durrington, Paul N PN; Doney, Alex A; Carr, Fiona F; Morris, Andrew A; McCarthy, Mark I MI; Groop, Leif L; Ahlqvist, Emma E; , ; Bis, Joshua C JC; Rice, Kenneth K; Smith, Nicholas L NL; Lumley, Thomas T; Whitsel, Eric A EA; Stürmer, Til T; Boerwinkle, Eric E; Ngwa, Julius S JS; O'Donnell, Christopher J CJ; Vasan, Ramachandran S RS; Wei, Wei-Qi WQ; Wilke, Russell A RA; Liu, Ching-Ti CT; Sun, Fangui F; Guo, Xiuqing X; Heckbert, Susan R SR; Post, Wendy W; Sotoodehnia, Nona N; Arnold, Alice M AM; Stafford, Jeanette M JM; Ding, Jingzhong J; Herrington, David M DM; Kritchevsky, Stephen B SB; Eiriksdottir, Gudny G; Launer, Leonore J LJ; Harris, Tamara B TB; Chu, Audrey Y AY; Giulianini, Franco F; MacFadyen, Jean G JG; Barratt, Bryan J BJ; Nyberg, Fredrik F; Stricker, Bruno H BH; Uitterlinden, André G AG; Hofman, Albert A; Rivadeneira, Fernando F; Emilsson, Valur V; Franco, Oscar H OH; Ridker, Paul M PM; Gudnason, Vilmundur V; Liu, Yongmei Y; Denny, Joshua C JC; Ballantyne, Christie M CM; Rotter, Jerome I JI; Adrienne Cupples, L L; Psaty, Bruce M BM; Palmer, Colin N A CN; Tardif, Jean-Claude JC; Colhoun, Helen M HM; Hitman, Graham G; Krauss, Ronald M RM; Wouter Jukema, J J; Caulfield, Mark J MJ
PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.
Journal Of Lipid Research
Postmus, Iris I; Trompet, Stella S; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ford, Ian I; Stott, David J DJ; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Jukema, J Wouter JW
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,