SLC22A1 c.1599-688T>C

Variant ID: 6-160578860-T-C

NM_003057.2(SLC22A1):c.1599-688T>C

This variant was identified in 47 publications

View GRCh38 version.




Publications:


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; ,
Publication Date: 2023-05-15

Variant appearance in text: rs1564348
PubMed Link: 37183858
Variant Present in the following documents:
  • Main text
  • JAH3-12-e029223.pdf
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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
Publication Date: 2022-12

Variant appearance in text: rs1564348
PubMed Link: 36643796
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study.

Frontiers In Genetics
Arrobas Velilla, Teresa T; Brea, Ángel Á; Valdivielso, Pedro P
Publication Date: 2022

Variant appearance in text: rs1564348
PubMed Link: 36105085
Variant Present in the following documents:
  • Main text
  • fgene-13-971651.pdf
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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: rs1564348
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
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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; ,
Publication Date: 2022-04-05

Variant appearance in text: rs1564348
PubMed Link: 35322671
Variant Present in the following documents:
  • Main text
  • JAH3-11-e023668.pdf
View BVdb publication page



Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Biomedicines
Martín-Campos, Jesús Maria JM
Publication Date: 2021-11-19

Variant appearance in text: SLC22A1: 1599-688T>C; rs1564348
PubMed Link: 34829957
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01728.pdf
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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; ,
Publication Date: 2021-12

Variant appearance in text: rs1564348
PubMed Link: 34521694
Variant Present in the following documents:
  • heartjnl-2021-319742supp001.pdf
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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
Publication Date: 2021-06-28

Variant appearance in text: rs1564348
PubMed Link: 34183656
Variant Present in the following documents:
  • 41467_2021_23899_MOESM1_ESM.pdf
View BVdb publication page



Genetic basis of hypercholesterolemia in adults.

Npj Genomic Medicine
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
Publication Date: 2021-04-14

Variant appearance in text: rs1564348
PubMed Link: 33854068
Variant Present in the following documents:
  • 41525_2021_190_MOESM1_ESM.pdf
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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: rs1564348
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
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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: rs1564348
PubMed Link: 32942679
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00353-s001.pdf
  • biomedicines-08-00353.pdf
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Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels.

Circulation. Genomic And Precision Medicine
Wang, Zhe Z; Chen, Han H; Bartz, Traci M TM; Bielak, Lawrence F LF; Chasman, Daniel I DI; Feitosa, Mary F MF; Franceschini, Nora N; Guo, Xiuqing X; Lim, Elise E; Noordam, Raymond R; Richard, Melissa A MA; Wang, Heming H; Cade, Brian B; Cupples, L Adrienne LA; de Vries, Paul S PS; Giulanini, Franco F; Lee, Jiwon J; Lemaitre, Rozenn N RN; Martin, Lisa W LW; Reiner, Alex P AP; Rich, Stephen S SS; Schreiner, Pamela J PJ; Sidney, Stephen S; Sitlani, Colleen M CM; Smith, Jennifer A JA; Willems van Dijk, Ko K; Yao, Jie J; Zhao, Wei W; Fornage, Myriam M; Kardia, Sharon L R SLR; Kooperberg, Charles C; Liu, Ching-Ti CT; Mook-Kanamori, Dennis O DO; Province, Michael A MA; Psaty, Bruce M BM; Redline, Susan S; Ridker, Paul M PM; Rotter, Jerome I JI; Boerwinkle, Eric E; Morrison, Alanna C AC; ,
Publication Date: 2020-08

Variant appearance in text: rs1564348
PubMed Link: 32510982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02

Variant appearance in text: rs1564348
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
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: rs1564348
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: rs1564348
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
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The transferability of lipid loci across African, Asian and European cohorts.

Nature Communications
Kuchenbaecker, Karoline K; Telkar, Nikita N; Reiker, Theresa T; Walters, Robin G RG; Lin, Kuang K; Eriksson, Anders A; Gurdasani, Deepti D; Gilly, Arthur A; Southam, Lorraine L; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Seeley, Janet J; Kamali, Anatoli A; Asiki, Gershim G; Millwood, Iona Y IY; Holmes, Michael M; Du, Huaidong H; Guo, Yu Y; Kumari, Meena M; Dedoussis, George G; Li, Liming L; Chen, Zhengming Z; Sandhu, Manjinder S MS; Zeggini, Eleftheria E; ,
Publication Date: 2019-09-24

Variant appearance in text: rs1564348
PubMed Link: 31551420
Variant Present in the following documents:
  • 41467_2019_12026_MOESM1_ESM.pdf
View BVdb publication page



Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
Sharifi, Mahtab M; Futema, Marta M; Nair, Devaki D; Humphries, Steve E SE
Publication Date: 2019-04-22

Variant appearance in text: rs1564348
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
  • 11886_2019_Article_1130.pdf
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs1564348
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
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: rs1564348
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genetic polymorphisms of organic cation transporter 1 (OCT1) and responses to metformin therapy in individuals with type 2 diabetes: A systematic review.

Medicine
Mofo Mato, Edith Pascale EP; Guewo-Fokeng, Magellan M; Essop, M Faadiel MF; Owira, Peter Mark Oroma PMO
Publication Date: 2018-07

Variant appearance in text: rs1564348
PubMed Link: 29979413
Variant Present in the following documents:
  • medi-97-e11349.pdf
View BVdb publication page



Organic cation transporter 1 (OCT1) modulates multiple cardiometabolic traits through effects on hepatic thiamine content.

Plos Biology
Liang, Xiaomin X; Yee, Sook Wah SW; Chien, Huan-Chieh HC; Chen, Eugene C EC; Luo, Qi Q; Zou, Ling L; Piao, Meiling M; Mifune, Arias A; Chen, Ligong L; Calvert, Meredith E ME; King, Sarah S; Norheim, Frode F; Abad, Janna J; Krauss, Ronald M RM; Giacomini, Kathleen M KM
Publication Date: 2018-04

Variant appearance in text: rs1564348
PubMed Link: 29659562
Variant Present in the following documents:
  • Main text
  • pbio.2002907.pdf
View BVdb publication page



Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies.

Frontiers In Endocrinology
Haslam, Danielle E DE; McKeown, Nicola M NM; Herman, Mark A MA; Lichtenstein, Alice H AH; Dashti, Hassan S HS
Publication Date: 2017

Variant appearance in text: rs1564348
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
  • fendo-08-00368.pdf
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
Nikkola, Elina E; Ko, Arthur A; Alvarez, Marcus M; Cantor, Rita M RM; Garske, Kristina K; Kim, Elliot E; Gee, Stephanie S; Rodriguez, Alejandra A; Muxel, Reinhard R; Matikainen, Niina N; Söderlund, Sanni S; Motazacker, Mahdi M MM; Borén, Jan J; Lamina, Claudia C; Kronenberg, Florian F; Schneider, Wolfgang J WJ; Palotie, Aarno A; Laakso, Markku M; Taskinen, Marja-Riitta MR; Pajukanta, Päivi P
Publication Date: 2017-09

Variant appearance in text: rs1564348
PubMed Link: 28772107
Variant Present in the following documents:
  • Main text
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: rs1564348
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration.

Ophthalmology
Burgess, Stephen S; Davey Smith, George G
Publication Date: 2017-08

Variant appearance in text: rs1564348
PubMed Link: 28456421
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.

Cell Stem Cell
Pashos, Evanthia E EE; Park, YoSon Y; Wang, Xiao X; Raghavan, Avanthi A; Yang, Wenli W; Abbey, Deepti D; Peters, Derek T DT; Arbelaez, Juan J; Hernandez, Mayda M; Kuperwasser, Nicolas N; Li, Wenjun W; Lian, Zhaorui Z; Liu, Ying Y; Lv, Wenjian W; Lytle-Gabbin, Stacey L SL; Marchadier, Dawn H DH; Rogov, Peter P; Shi, Jianting J; Slovik, Katherine J KJ; Stylianou, Ioannis M IM; Wang, Li L; Yan, Ruilan R; Zhang, Xiaolan X; Kathiresan, Sekar S; Duncan, Stephen A SA; Mikkelsen, Tarjei S TS; Morrisey, Edward E EE; Rader, Daniel J DJ; Brown, Christopher D CD; Musunuru, Kiran K
Publication Date: 2017-04-06

Variant appearance in text: rs1564348
PubMed Link: 28388432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.

Scientific Reports
Christie, Shanice S; Robiou-du-Pont, Sébastien S; Anand, Sonia S SS; Morrison, Katherine M KM; McDonald, Sarah D SD; Paré, Guillaume G; Atkinson, Stephanie A SA; Teo, Koon K KK; Meyre, David D
Publication Date: 2017-03-06

Variant appearance in text: rs1564348
PubMed Link: 28250428
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_102.pdf
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs1564348
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.

Journal Of Medical Genetics
van Leeuwen, Elisabeth M EM; Sabo, Aniko A; Bis, Joshua C JC; Huffman, Jennifer E JE; Manichaikul, Ani A; Smith, Albert V AV; Feitosa, Mary F MF; Demissie, Serkalem S; Joshi, Peter K PK; Duan, Qing Q; Marten, Jonathan J; van Klinken, Jan B JB; Surakka, Ida I; Nolte, Ilja M IM; Zhang, Weihua W; Mbarek, Hamdi H; Li-Gao, Ruifang R; Trompet, Stella S; Verweij, Niek N; Evangelou, Evangelos E; Lyytikäinen, Leo-Pekka LP; Tayo, Bamidele O BO; Deelen, Joris J; van der Most, Peter J PJ; van der Laan, Sander W SW; Arking, Dan E DE; Morrison, Alanna A; Dehghan, Abbas A; Franco, Oscar H OH; Hofman, Albert A; Rivadeneira, Fernando F; Sijbrands, Eric J EJ; Uitterlinden, Andre G AG; Mychaleckyj, Josyf C JC; Campbell, Archie A; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Brody, Jennifer A JA; Rice, Kenneth M KM; White, Charles C CC; Harris, Tamara T; Isaacs, Aaron A; Campbell, Harry H; Lange, Leslie A LA; Rudan, Igor I; Kolcic, Ivana I; Navarro, Pau P; Zemunik, Tatijana T; Salomaa, Veikko V; , ; Kooner, Angad S AS; Kooner, Jaspal S JS; Lehne, Benjamin B; Scott, William R WR; Tan, Sian-Tsung ST; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Willemsen, Gonneke G; de Mutsert, Renée R; Ford, Ian I; Gansevoort, Ron T RT; Segura-Lepe, Marcelo P MP; Raitakari, Olli T OT; Viikari, Jorma S JS; Nikus, Kjell K; Forrester, Terrence T; McKenzie, Colin A CA; de Craen, Anton J M AJ; de Ruijter, Hester M HM; , ; Pasterkamp, Gerard G; Snieder, Harold H; Oldehinkel, Albertine J AJ; Slagboom, P Eline PE; Cooper, Richard S RS; Kähönen, Mika M; Lehtimäki, Terho T; Elliott, Paul P; van der Harst, Pim P; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Boomsma, Dorret I DI; Chambers, John C JC; Swertz, Morris M; Ripatti, Samuli S; Willems van Dijk, Ko K; Vitart, Veronique V; Polasek, Ozren O; Hayward, Caroline C; Wilson, James G JG; Wilson, James F JF; Gudnason, Vilmundur V; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Boerwinkle, Eric E; Rotter, Jerome I JI; Cupples, L Adrienne LA; van Duijn, Cornelia M CM
Publication Date: 2016-07

Variant appearance in text: rs1564348
PubMed Link: 27036123
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Publication Date: 2015-12-22

Variant appearance in text: rs1564348
PubMed Link: 26690388
Variant Present in the following documents:
  • ncomms10206-s1.pdf
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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
Publication Date: 2015

Variant appearance in text: rs1564348
PubMed Link: 26295473
Variant Present in the following documents:
  • Main text
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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: rs1564348
PubMed Link: 25898129
Variant Present in the following documents:
  • Main text
  • pone.0120758.pdf
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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: rs1564348
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave.

Plos One
Lamina, Claudia C; Haun, Margot M; Coassin, Stefan S; Kloss-Brandstätter, Anita A; Gieger, Christian C; Peters, Annette A; Grallert, Harald H; Strauch, Konstantin K; Meitinger, Thomas T; Kedenko, Lyudmyla L; Paulweber, Bernhard B; Kronenberg, Florian F
Publication Date: 2014

Variant appearance in text: rs1564348
PubMed Link: 25050552
Variant Present in the following documents:
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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
Publication Date: 2014-08

Variant appearance in text: rs1564348
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
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PharmGKB summary: very important pharmacogene information for SLC22A1.

Pharmacogenetics And Genomics
Goswami, Srijib S; Gong, Li L; Giacomini, Kathleen K; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2014-06

Variant appearance in text: rs1564348
PubMed Link: 24681965
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  • Main text
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Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids.

Genome Medicine
Shin, So-Youn SY; Petersen, Ann-Kristin AK; Wahl, Simone S; Zhai, Guangju G; Römisch-Margl, Werner W; Small, Kerrin S KS; Döring, Angela A; Kato, Bernet S BS; Peters, Annette A; Grundberg, Elin E; Prehn, Cornelia C; Wang-Sattler, Rui R; Wichmann, H-Erich HE; de Angelis, Martin Hrabé MH; Illig, Thomas T; Adamski, Jerzy J; Deloukas, Panos P; Spector, Tim D TD; Suhre, Karsten K; Gieger, Christian C; Soranzo, Nicole N
Publication Date: 2014

Variant appearance in text: rs1564348
PubMed Link: 24678845
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Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.

The Application Of Clinical Genetics
Sayols-Baixeras, Sergi S; Lluís-Ganella, Carla C; Lucas, Gavin G; Elosua, Roberto R
Publication Date: 2014

Variant appearance in text: rs1564348
PubMed Link: 24520200
Variant Present in the following documents:
  • Main text
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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
Publication Date: 2014-04

Variant appearance in text: rs1564348
PubMed Link: 24503134
Variant Present in the following documents:
  • supp_D045963_jlr.D045963-1.pdf
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Characterization of statin dose response in electronic medical records.

Clinical Pharmacology And Therapeutics
Wei, W-Q WQ; Feng, Q Q; Jiang, L L; Waitara, M S MS; Iwuchukwu, O F OF; Roden, D M DM; Jiang, M M; Xu, H H; Krauss, R M RM; Rotter, J I JI; Nickerson, D A DA; Davis, R L RL; Berg, R L RL; Peissig, P L PL; McCarty, C A CA; Wilke, R A RA; Denny, J C JC
Publication Date: 2014-03

Variant appearance in text: rs1564348
PubMed Link: 24096969
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  • Main text
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Genetic-genomic replication to identify candidate mouse atherosclerosis modifier genes.

Journal Of The American Heart Association
Hsu, Jeffrey J; Smith, Jonathan D JD
Publication Date: 2013-01-23

Variant appearance in text: rs1564348
PubMed Link: 23525445
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PREDICTING TEMPORAL LOBE VOLUME ON MRI FROM GENOTYPES USING L(1)-L(2) REGULARIZED REGRESSION.

Proceedings. Ieee International Symposium On Biomedical Imaging
Kohannim, Omid O; Hibar, Derrek P DP; Jahanshad, Neda N; Stein, Jason L JL; Hua, Xue X; Toga, Arthur W AW; Jack, Clifford R CR; Weiner, Michael W MW; Thompson, Paul M PM; ,
Publication Date: 2012

Variant appearance in text: rs1564348
PubMed Link: 22903144
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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
Publication Date: 2012

Variant appearance in text: rs1564348
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
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Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour.

Human Molecular Genetics
Peden, John F JF; Farrall, Martin M
Publication Date: 2011-10-15

Variant appearance in text: rs1564348
PubMed Link: 21875899
Variant Present in the following documents:
  • Main text
  • ddr384.pdf
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Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
Jeemon, Panniyammakal P; Pettigrew, Kerry K; Sainsbury, Christopher C; Prabhakaran, Dorairaj D; Padmanabhan, Sandosh S
Publication Date: 2011-07-26

Variant appearance in text: rs1564348
PubMed Link: 21860704
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  • Main text
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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
Publication Date: 2010-08-05

Variant appearance in text: rs1564348
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
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