Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia.
Journal Of The American Heart Association
Olmastroni, Elena E; Gazzotti, Marta M; Averna, Maurizio M; Arca, Marcello M; Tarugi, Patrizia P; Calandra, Sebastiano S; Bertolini, Stefano S; Catapano, Alberico L AL; Casula, Manuela M; ,
Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia.
Atherosclerosis Plus
Borg, Sanna Á SÁ; Sørensen Bork, Christian C; Skjelbo Nielsen, Michael René MR; Jóanesarson, Jan J; Zaremba, Tomas T; Lolas, Ihab Bishara Yousef IBY; Lundbye-Christensen, Søren S; Søgaard, Peter P; Berg Schmidt, Erik E; Joensen, Albert Marni AM
Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.
Journal Of The American Heart Association
Olmastroni, Elena E; Gazzotti, Marta M; Arca, Marcello M; Averna, Maurizio M; Pirillo, Angela A; Catapano, Alberico Luigi AL; Casula, Manuela M; ,
Case-finding and genetic testing for familial hypercholesterolaemia in primary care.
Heart (British Cardiac Society)
Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,
A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids.
Nature Communications
Jhun, Min-A MA; Mendelson, Michael M; Wilson, Rory R; Gondalia, Rahul R; Joehanes, Roby R; Salfati, Elias E; Zhao, Xiaoping X; Braun, Kim Valeska Emilie KVE; Do, Anh Nguyet AN; Hedman, Åsa K ÅK; Zhang, Tao T; Carnero-Montoro, Elena E; Shen, Jincheng J; Bartz, Traci M TM; Brody, Jennifer A JA; Montasser, May E ME; O'Connell, Jeff R JR; Yao, Chen C; Xia, Rui R; Boerwinkle, Eric E; Grove, Megan M; Guan, Weihua W; Liliane, Pfeiffer P; Singmann, Paula P; Müller-Nurasyid, Martina M; Meitinger, Thomas T; Gieger, Christian C; Peters, Annette A; Zhao, Wei W; Ware, Erin B EB; Smith, Jennifer A JA; Dhana, Klodian K; van Meurs, Joyce J; Uitterlinden, Andre A; Ikram, Mohammad Arfan MA; Ghanbari, Mohsen M; Zhi, Deugi D; Gustafsson, Stefan S; Lind, Lars L; Li, Shengxu S; Sun, Dianjianyi D; Spector, Tim D TD; Chen, Yii-der Ida YI; Damcott, Coleen C; Shuldiner, Alan R AR; Absher, Devin M DM; Horvath, Steve S; Tsao, Philip S PS; Kardia, Sharon S; Psaty, Bruce M BM; Sotoodehnia, Nona N; Bell, Jordana T JT; Ingelsson, Erik E; Chen, Wei W; Dehghan, Abbas A; Arnett, Donna K DK; Waldenberger, Melanie M; Hou, Lifang L; Whitsel, Eric A EA; Baccarelli, Andrea A; Levy, Daniel D; Fornage, Myriam M; Irvin, Marguerite R MR; Assimes, Themistocles L TL
Saadatagah, Seyedmohammad S; Jose, Merin M; Dikilitas, Ozan O; Alhalabi, Lubna L; Miller, Alexandra A AA; Fan, Xiao X; Olson, Janet E JE; Kochan, David C DC; Safarova, Maya M; Kullo, Iftikhar J IJ
Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection.
Biomedicines
Martín-Campos, Jesús M JM; Ruiz-Nogales, Sheila S; Ibarretxe, Daiana D; Ortega, Emilio E; Sánchez-Pujol, Elisabet E; Royuela-Juncadella, Meritxell M; Vila, Àlex À; Guerrero, Carolina C; Zamora, Alberto A; Soler I Ferrer, Cristina C; Arroyo, Juan Antonio JA; Carreras, Gemma G; Martínez-Figueroa, Susana S; Roig, Rosa R; Plana, Núria N; Blanco-Vaca, Francisco F; Xarxa d'Unitats de Lípids I Arteriosclerosi Xula,
Publication Date: 2020-09-15
Variant appearance in text: ST3GAL4: -61+18215G>A; rs11220462
Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci.
Human Molecular Genetics
Zubair, Niha N; Graff, Mariaelisa M; Luis Ambite, Jose J; Bush, William S WS; Kichaev, Gleb G; Lu, Yingchang Y; Manichaikul, Ani A; Sheu, Wayne H-H WH; Absher, Devin D; Assimes, Themistocles L TL; Bielinski, Suzette J SJ; Bottinger, Erwin P EP; Buzkova, Petra P; Chuang, Lee-Ming LM; Chung, Ren-Hua RH; Cochran, Barbara B; Dumitrescu, Logan L; Gottesman, Omri O; Haessler, Jeffrey W JW; Haiman, Christopher C; Heiss, Gerardo G; Hsiung, Chao A CA; Hung, Yi-Jen YJ; Hwu, Chii-Min CM; Juang, Jyh-Ming J JJ; Le Marchand, Loic L; Lee, I-Te IT; Lee, Wen-Jane WJ; Lin, Li-An LA; Lin, Danyu D; Lin, Shih-Yi SY; Mackey, Rachel H RH; Martin, Lisa W LW; Pasaniuc, Bogdan B; Peters, Ulrike U; Predazzi, Irene I; Quertermous, Thomas T; Reiner, Alex P AP; Robinson, Jennifer J; Rotter, Jerome I JI; Ryckman, Kelli K KK; Schreiner, Pamela J PJ; Stahl, Eli E; Tao, Ran R; Tsai, Michael Y MY; Waite, Lindsay L LL; Wang, Tzung-Dau TD; Buyske, Steven S; Ida Chen, Yii-Der YD; Cheng, Iona I; Crawford, Dana C DC; Loos, Ruth J F RJF; Rich, Stephen S SS; Fornage, Myriam M; North, Kari E KE; Kooperberg, Charles C; Carty, Cara L CL
Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.
Nature Communications
Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W
Birth Cohort, Age, and Sex Strongly Modulate Effects of Lipid Risk Alleles Identified in Genome-Wide Association Studies.
Plos One
Kulminski, Alexander M AM; Culminskaya, Irina I; Arbeev, Konstantin G KG; Arbeeva, Liubov L; Ukraintseva, Svetlana V SV; Stallard, Eric E; Wu, Deqing D; Yashin, Anatoliy I AI
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
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Journal Of Medical Genetics
Futema, Marta M; Plagnol, Vincent V; Li, KaWah K; Whittall, Ros A RA; Neil, H Andrew W HA; Seed, Mary M; , ; Bertolini, Stefano S; Calandra, Sebastiano S; Descamps, Olivier S OS; Graham, Colin A CA; Hegele, Robert A RA; Karpe, Fredrik F; Durst, Ronen R; Leitersdorf, Eran E; Lench, Nicholas N; Nair, Devaki R DR; Soran, Handrean H; Van Bockxmeer, Frank M FM; , ; Humphries, Steve E SE
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.
Plos One
Lucas, Gavin G; Lluís-Ganella, Carla C; Subirana, Isaac I; Musameh, Muntaser D MD; Gonzalez, Juan Ramon JR; Nelson, Christopher P CP; Sentí, Mariano M; , ; , ; Schwartz, Stephen M SM; Siscovick, David D; O'Donnell, Christopher J CJ; Melander, Olle O; Salomaa, Veikko V; Purcell, Shaun S; Altshuler, David D; Samani, Nilesh J NJ; Kathiresan, Sekar S; Elosua, Roberto R
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Biological, clinical and population relevance of 95 loci for blood lipids.
Nature
Teslovich, Tanya M TM; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Ripatti, Samuli S; Chasman, Daniel I DI; Willer, Cristen J CJ; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Isaacs, Aaron A; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; Feitosa, Mary F MF; Chambers, John J; Orho-Melander, Marju M; Melander, Olle O; Johnson, Toby T; Li, Xiaohui X; Guo, Xiuqing X; Li, Mingyao M; Shin Cho, Yoon Y; Jin Go, Min M; Jin Kim, Young Y; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Twee-Hee Ong, Rick R; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Song, Kijoung K; Hua Zhao, Jing J; Yuan, Xin X; Luan, Jian'an J; Lamina, Claudia C; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Wright, Alan F AF; Witteman, Jacqueline C M JC; Wilson, James F JF; Willemsen, Gonneke G; Wichmann, H-Erich HE; Whitfield, John B JB; Waterworth, Dawn M DM; Wareham, Nicholas J NJ; Waeber, Gérard G; Vollenweider, Peter P; Voight, Benjamin F BF; Vitart, Veronique V; Uitterlinden, Andre G AG; Uda, Manuela M; Tuomilehto, Jaakko J; Thompson, John R JR; Tanaka, Toshiko T; Surakka, Ida I; Stringham, Heather M HM; Spector, Tim D TD; Soranzo, Nicole N; Smit, Johannes H JH; Sinisalo, Juha J; Silander, Kaisa K; Sijbrands, Eric J G EJ; Scuteri, Angelo A; Scott, James J; Schlessinger, David D; Sanna, Serena S; Salomaa, Veikko V; Saharinen, Juha J; Sabatti, Chiara C; Ruokonen, Aimo A; Rudan, Igor I; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Psaty, Bruce M BM; Pramstaller, Peter P PP; Pichler, Irene I; Perola, Markus M; Penninx, Brenda W J H BW; Pedersen, Nancy L NL; Pattaro, Cristian C; Parker, Alex N AN; Pare, Guillaume G; Oostra, Ben A BA; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; Meitinger, Thomas T; McPherson, Ruth R; McCarthy, Mark I MI; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Mangino, Massimo M; Magnusson, Patrik K E PK; Lucas, Gavin G; Luben, Robert R; Loos, Ruth J F RJ; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Langenberg, Claudia C; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; Kronenberg, Florian F; König, Inke R IR; Khaw, Kay-Tee KT; Kaprio, Jaakko J; Kaplan, Lee M LM; Johansson, Asa A; Jarvelin, Marjo-Riitta MR; Janssens, A Cecile J W AC; Ingelsson, Erik E; Igl, Wilmar W; Kees Hovingh, G G; Hottenga, Jouke-Jan JJ; Hofman, Albert A; Hicks, Andrew A AA; Hengstenberg, Christian C; Heid, Iris M IM; Hayward, Caroline C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Gyllensten, Ulf U; Guiducci, Candace C; Groop, Leif C LC; Gonzalez, Elena E; Gieger, Christian C; Freimer, Nelson B NB; Ferrucci, Luigi L; Erdmann, Jeanette J; Elliott, Paul P; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Geus, Eco J C EJ; de Faire, Ulf U; Crawford, Gabriel G; Collins, Francis S FS; Chen, Yii-der I YD; Caulfield, Mark J MJ; Campbell, Harry H; Burtt, Noel P NP; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Boekholdt, S Matthijs SM; Bergman, Richard N RN; Barroso, Inês I; Bandinelli, Stefania S; Ballantyne, Christie M CM; Assimes, Themistocles L TL; Quertermous, Thomas T; Altshuler, David D; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Adair, Linda S LS; Taylor, Herman A HA; Borecki, Ingrid B IB; Gabriel, Stacey B SB; Wilson, James G JG; Holm, Hilma H; Thorsteinsdottir, Unnur U; Gudnason, Vilmundur V; Krauss, Ronald M RM; Mohlke, Karen L KL; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Rotter, Jerome I JI; Boerwinkle, Eric E; Strachan, David P DP; Mooser, Vincent V; Stefansson, Kari K; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; van Duijn, Cornelia M CM; Peltonen, Leena L; Abecasis, Gonçalo R GR; Boehnke, Michael M; Kathiresan, Sekar S