CELSR2 c.*1635G>T

Variant ID: 1-109818306-G-T

NM_001408.2(CELSR2):c.*1635G>T

This variant was identified in 100 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: rs629301
PubMed Link: 37183858
Variant Present in the following documents:
  • Main text
  • JAH3-12-e029223.pdf
View BVdb publication page



Causal relationship between human blood omega-3 fatty acids and the risk of epilepsy: A two-sample Mendelian randomization study.

Frontiers In Neurology
Liang, Zhen Z; Lou, Yingyue Y; Li, Zijian Z; Liu, Songyan S
Publication Date: 2023

Variant appearance in text: rs629301
PubMed Link: 36970527
Variant Present in the following documents:
  • Main text
  • fneur-14-1130439.pdf
View BVdb publication page



Sortilin enhances fibrosis and calcification in aortic valve disease by inducing interstitial cell heterogeneity.

European Heart Journal
Iqbal, Farwah F; Schlotter, Florian F; Becker-Greene, Dakota D; Lupieri, Adrien A; Goettsch, Claudia C; Hutcheson, Joshua D JD; Rogers, Maximillian A MA; Itoh, Shinsuke S; Halu, Arda A; Lee, Lang Ho LH; Blaser, Mark C MC; Mlynarchik, Andrew K AK; Hagita, Sumihiko S; Kuraoka, Shiori S; Chen, Hao Yu HY; Engert, James C JC; Passos, Livia S A LSA; Jha, Prabhash K PK; Osborn, Eric A EA; Jaffer, Farouc A FA; Body, Simon C SC; Robson, Simon C SC; Thanassoulis, George G; Aikawa, Masanori M; Singh, Sasha A SA; Sonawane, Abhijeet R AR; Aikawa, Elena E
Publication Date: 2023-01-20

Variant appearance in text: rs629301
PubMed Link: 36660854
Variant Present in the following documents:
  • Main text
  • ehac818.pdf
View BVdb publication page



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: rs629301
PubMed Link: 36643796
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects.

Saudi Journal Of Biological Sciences
Nuinoon, Manit M; Saiphak, Wutthichai W; Nawaka, Nantiya N; Rattanawan, Chutima C; Pussadhamma, Burabha B; Jeenduang, Nutjaree N
Publication Date: 2023-02

Variant appearance in text: rs629301
PubMed Link: 36619676
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs629301
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs629301
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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: rs629301
PubMed Link: 36105085
Variant Present in the following documents:
  • Main text
  • fgene-13-971651.pdf
View BVdb publication page



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: rs629301
PubMed Link: 35322671
Variant Present in the following documents:
  • Main text
  • JAH3-11-e023668.pdf
View BVdb publication page



A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4.

Npj Genomic Medicine
Chou, Wen-Cheng WC; Chen, Wei-Ting WT; Shen, Chen-Yang CY
Publication Date: 2022-01-19

Variant appearance in text: rs629301
PubMed Link: 35046404
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_279.pdf
View BVdb publication page



A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4.

Npj Genomic Medicine
Chou, Wen-Cheng WC; Chen, Wei-Ting WT; Shen, Chen-Yang CY
Publication Date: 2022-01-19

Variant appearance in text: rs629301
PubMed Link: 35046404
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_279.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: rs629301
PubMed Link: 34829957
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01728.pdf
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Emerging roles of sortilin in affecting the metabolism of glucose and lipid profiles.

Bosnian Journal Of Basic Medical Sciences
Su, Xin X; Chen, Linjian L; Chen, Xiang X; Dai, Cuilian C; Wang, Bin B
Publication Date: 2022-06-01

Variant appearance in text: rs629301
PubMed Link: 34784266
Variant Present in the following documents:
  • Main text
  • BJBMS-22-340.pdf
View BVdb publication page



Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake.

Nature Communications
Zimoń, Magdalena M; Huang, Yunfeng Y; Trasta, Anthi A; Halavatyi, Aliaksandr A; Liu, Jimmy Z JZ; Chen, Chia-Yen CY; Blattmann, Peter P; Klaus, Bernd B; Whelan, Christopher D CD; Sexton, David D; John, Sally S; Huber, Wolfgang W; Tsai, Ellen A EA; Pepperkok, Rainer R; Runz, Heiko H
Publication Date: 2021-11-05

Variant appearance in text: rs629301
PubMed Link: 34741066
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26761.pdf
  • 41467_2021_26761_MOESM2_ESM.pdf
View BVdb publication page



Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort.

Plos One
Ashvetiya, Tamara T; Fan, Sherry X SX; Chen, Yi-Ju YJ; Williams, Charles H CH; O'Connell, Jeffery R JR; Perry, James A JA; Hong, Charles C CC
Publication Date: 2021

Variant appearance in text: rs629301
PubMed Link: 34469433
Variant Present in the following documents:
  • Main text
  • pone.0247287.pdf
View BVdb publication page



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: rs629301
PubMed Link: 34183656
Variant Present in the following documents:
  • 41467_2021_23899_MOESM1_ESM.pdf
View BVdb publication page



Sortilin as a Biomarker for Cardiovascular Disease Revisited.

Frontiers In Cardiovascular Medicine
Møller, Peter Loof PL; Rohde, Palle D PD; Winther, Simon S; Breining, Peter P; Nissen, Louise L; Nykjaer, Anders A; Bøttcher, Morten M; Nyegaard, Mette M; Kjolby, Mads M
Publication Date: 2021

Variant appearance in text: rs629301
PubMed Link: 33937362
Variant Present in the following documents:
  • Main text
View BVdb publication page



The rs599839 A>G Variant Disentangles Cardiovascular Risk and Hepatocellular Carcinoma in NAFLD Patients.

Cancers
Meroni, Marica M; Longo, Miriam M; Paolini, Erika E; Alisi, Anna A; Miele, Luca L; De Caro, Emilia Rita ER; Pisano, Giuseppina G; Maggioni, Marco M; Soardo, Giorgio G; Valenti, Luca Vittorio LV; Fracanzani, Anna Ludovica AL; Dongiovanni, Paola P
Publication Date: 2021-04-08

Variant appearance in text: rs629301
PubMed Link: 33917919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.

Journal Of The American Heart Association
D'Erasmo, Laura L; Minicocci, Ilenia I; Di Costanzo, Alessia A; Pigna, Giovanni G; Commodari, Daniela D; Ceci, Fabrizio F; Montali, Anna A; Brancato, Francesca F; Stanca, Ilaria I; Nicolucci, Antonio A; Ascione, Andrea A; Galea, Nicola N; Carbone, Iacopo I; Francone, Marco M; Maranghi, Marianna M; Arca, Marcello M
Publication Date: 2021-05-04

Variant appearance in text: rs629301
PubMed Link: 33890476
Variant Present in the following documents:
  • Main text
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: rs629301
PubMed Link: 33854068
Variant Present in the following documents:
  • 41525_2021_190_MOESM1_ESM.pdf
View BVdb publication page



MendelianRandomization v0.5.0: updates to an R package for performing Mendelian randomization analyses using summarized data.

Wellcome Open Research
Broadbent, Jim R JR; Foley, Christopher N CN; Grant, Andrew J AJ; Mason, Amy M AM; Staley, James R JR; Burgess, Stephen S
Publication Date: 2020

Variant appearance in text: rs629301
PubMed Link: 33381656
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-18125.pdf
View BVdb publication page



MendelianRandomization v0.5.0: updates to an R package for performing Mendelian randomization analyses using summarized data.

Wellcome Open Research
Broadbent, Jim R JR; Foley, Christopher N CN; Grant, Andrew J AJ; Mason, Amy M AM; Staley, James R JR; Burgess, Stephen S
Publication Date: 2020

Variant appearance in text: rs629301
PubMed Link: 33381656
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-18125.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: rs629301
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



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: rs629301
PubMed Link: 32942679
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.

Human Genetics
Hebbar, Prashantha P; Abubaker, Jehad Ahmed JA; Abu-Farha, Mohamed M; Alsmadi, Osama O; Elkum, Naser N; Alkayal, Fadi F; John, Sumi Elsa SE; Channanath, Arshad A; Iqbal, Rasheeba R; Pitkaniemi, Janne J; Tuomilehto, Jaakko J; Sladek, Robert R; Al-Mulla, Fahd F; Thanaraj, Thangavel Alphonse TA
Publication Date: 2021-03

Variant appearance in text: rs629301
PubMed Link: 32902719
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population.

Disease Markers
Cheema, Asma Naseer AN; Pirim, Dilek D; Wang, Xingbin X; Ali, Jabar J; Bhatti, Attya A; John, Peter P; Feingold, Eleanor E; Demirci, F Yesim FY; Kamboh, M Ilyas MI
Publication Date: 2020

Variant appearance in text: rs629301
PubMed Link: 32685059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically programmed changes in transcription of the novel progranulin regulator.

Journal Of Molecular Medicine (Berlin, Germany)
Keller, Maria M; Gebhardt, Claudia C; Huth, Sandra S; Schleinitz, Dorit D; Heyne, Henrike H; Scholz, Markus M; Stumvoll, Michael M; Böttcher, Yvonne Y; Tönjes, Anke A; Kovacs, Peter P
Publication Date: 2020-08

Variant appearance in text: rs629301
PubMed Link: 32620998
Variant Present in the following documents:
  • Main text
  • 109_2020_Article_1942.pdf
View BVdb publication page



Polygenic risk scores: pleiotropy and the effect of environment.

Geroscience
Loika, Yury Y; Irincheeva, Irina I; Culminskaya, Irina I; Nazarian, Alireza A; Kulminski, Alexander M AM
Publication Date: 2020-12

Variant appearance in text: rs629301
PubMed Link: 32488673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)
Mickiewicz, Agnieszka A; Futema, Marta M; Ćwiklinska, Agnieszka A; Kuchta, Agnieszka A; Jankowski, Maciej M; Kaszubowski, Mariusz M; Chmara, Magdalena M; Wasąg, Bartosz B; Fijałkowski, Marcin M; Jaguszewski, Miłosz M; Humphries, Steve E SE; Gruchała, Marcin M
Publication Date: 2020-05-20

Variant appearance in text: rs629301
PubMed Link: 32443900
Variant Present in the following documents:
  • Main text
View BVdb publication page



A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.

Molecular Genetics & Genomic Medicine
Leal, Luis G LG; Hoggart, Clive C; Jarvelin, Marjo-Riitta MR; Herzig, Karl-Heinz KH; Sternberg, Michael J E MJE; David, Alessia A
Publication Date: 2020-06

Variant appearance in text: rs629301
PubMed Link: 32307928
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: rs629301
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: rs629301
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: rs629301
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
View BVdb publication page



The Contribution of Lipids to the Interindividual Response of Vitamin K Biomarkers to Vitamin K Supplementation.

Molecular Nutrition & Food Research
Kelly, Jennifer M JM; Ordovas, Jose M JM; Matuszek, Gregory G; Smith, Caren E CE; Huggins, Gordon S GS; Dashti, Hassan S HS; Ichikawa, Reiko R; Booth, Sarah L SL
Publication Date: 2019-12

Variant appearance in text: rs629301
PubMed Link: 31533195
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutant Huntingtin Affects Diabetes and Alzheimer's Markers in Human and Cell Models of Huntington's Disease.

Cells
Chaves, Gepoliano G; Stanley, John J; Pourmand, Nader N
Publication Date: 2019-08-23

Variant appearance in text: rs629301
PubMed Link: 31450785
Variant Present in the following documents:
  • cells-08-00962-s001.pdf
View BVdb publication page



Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits.

Nature Communications
Porcu, Eleonora E; Rüeger, Sina S; Lepik, Kaido K; , ; , ; Santoni, Federico A FA; Reymond, Alexandre A; Kutalik, Zoltán Z
Publication Date: 2019-07-24

Variant appearance in text: rs629301
PubMed Link: 31341166
Variant Present in the following documents:
  • 41467_2019_10936_MOESM1_ESM.pdf
View BVdb publication page



A genome-wide scan statistic framework for whole-genome sequence data analysis.

Nature Communications
He, Zihuai Z; Xu, Bin B; Buxbaum, Joseph J; Ionita-Laza, Iuliana I
Publication Date: 2019-07-09

Variant appearance in text: rs629301
PubMed Link: 31289270
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs629301
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
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: rs629301
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
  • 11886_2019_Article_1130.pdf
View BVdb publication page



A PheWAS study of a large observational epidemiological cohort of African Americans from the REGARDS study.

Bmc Medical Genomics
Zhao, Xueyan X; Geng, Xin X; Srinivasasainagendra, Vinodh V; Chaudhary, Ninad N; Judd, Suzanne S; Wadley, Virginia V; Gutiérrez, Orlando M OM; Wang, Henry H; Lange, Ethan M EM; Lange, Leslie A LA; Woo, Daniel D; Unverzagt, Frederick W FW; Safford, Monika M; Cushman, Mary M; Limdi, Nita N; Quarells, Rakale R; Arnett, Donna K DK; Irvin, Marguerite R MR; Zhi, Degui D
Publication Date: 2019-01-31

Variant appearance in text: rs629301
PubMed Link: 30704471
Variant Present in the following documents:
  • Main text
  • 12920_2018_Article_462.pdf
View BVdb publication page



Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports
Yamada, Yoshiji Y; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2018-11

Variant appearance in text: rs629301
PubMed Link: 30402224
Variant Present in the following documents:
  • Main text
  • br-09-05-0383.pdf
View BVdb publication page



Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.

Journal Of The American Heart Association
Tuteja, Sony S; Qu, Liming L; Vujkovic, Marijana M; Dunbar, Richard L RL; Chen, Jinbo J; DerOhannessian, Stephanie S; Rader, Daniel J DJ
Publication Date: 2018-10-02

Variant appearance in text: rs629301
PubMed Link: 30371334
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.

Nature Communications
Yao, Chen C; Chen, George G; Song, Ci C; Keefe, Joshua J; Mendelson, Michael M; Huan, Tianxiao T; Sun, Benjamin B BB; Laser, Annika A; Maranville, Joseph C JC; Wu, Hongsheng H; Ho, Jennifer E JE; Courchesne, Paul P; Lyass, Asya A; Larson, Martin G MG; Gieger, Christian C; Graumann, Johannes J; Johnson, Andrew D AD; Danesh, John J; Runz, Heiko H; Hwang, Shih-Jen SJ; Liu, Chunyu C; Butterworth, Adam S AS; Suhre, Karsten K; Levy, Daniel D
Publication Date: 2018-08-15

Variant appearance in text: rs629301
PubMed Link: 30111768
Variant Present in the following documents:
  • 41467_2018_5512_MOESM2_ESM.pdf
View BVdb publication page



Genetic variants in mRNA untranslated regions.

Wiley Interdisciplinary Reviews. Rna
Steri, Maristella M; Idda, M Laura ML; Whalen, Michael B MB; Orrù, Valeria V
Publication Date: 2018-07

Variant appearance in text: rs629301
PubMed Link: 29582564
Variant Present in the following documents:
  • Main text
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: rs629301
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
  • fendo-08-00368.pdf
View BVdb publication page



CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.

Plos One
Einarsdottir, Elisabet E; Grauers, Anna A; Wang, Jingwen J; Jiao, Hong H; Escher, Stefan A SA; Danielsson, Aina A; Simony, Ane A; Andersen, Mikkel M; Christensen, Steen Bach SB; Åkesson, Kristina K; Kou, Ikuyo I; Khanshour, Anas M AM; Ohlin, Acke A; Wise, Carol C; Ikegawa, Shiro S; Kere, Juha J; Gerdhem, Paul P
Publication Date: 2017

Variant appearance in text: rs629301
PubMed Link: 29240829
Variant Present in the following documents:
  • Main text
  • pone.0189591.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs629301
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
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Proficiency of data interpretation: identification of signaling SNPs/specific loci for coronary artery disease.

Database : The Journal Of Biological Databases And Curation
Cheema, Asma N AN; Rosenthal, Samantha L SL; Ilyas Kamboh, M M
Publication Date: 2017-01-01

Variant appearance in text: rs629301
PubMed Link: 29220472
Variant Present in the following documents:
  • Main text
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Sortilin and Its Multiple Roles in Cardiovascular and Metabolic Diseases.

Arteriosclerosis, Thrombosis, And Vascular Biology
Goettsch, Claudia C; Kjolby, Mads M; Aikawa, Elena E
Publication Date: 2018-01

Variant appearance in text: rs629301
PubMed Link: 29191923
Variant Present in the following documents:
  • Main text
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Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data.

American Journal Of Human Genetics
He, Zihuai Z; Xu, Bin B; Lee, Seunggeun S; Ionita-Laza, Iuliana I
Publication Date: 2017-09-07

Variant appearance in text: rs629301
PubMed Link: 28844485
Variant Present in the following documents:
  • Main text
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GATE: an efficient procedure in study of pleiotropic genetic associations.

Bmc Genomics
Zhang, Wei W; Yang, Liu L; Tang, Larry L LL; Liu, Aiyi A; Mills, James L JL; Sun, Yuanchang Y; Li, Qizhai Q
Publication Date: 2017-07-21

Variant appearance in text: rs629301
PubMed Link: 28732532
Variant Present in the following documents:
  • Main text
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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: rs629301
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
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Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis
Sharifi, Mahtab M; Higginson, Elizabeth E; Bos, Sven S; Gallivan, Angela A; Harvey, Darren D; Li, Ka Wah KW; Abeysekera, Amali A; Haddon, Angela A; Ashby, Helen H; Shipman, Kate E KE; Cooper, Jackie A JA; Futema, Marta M; Roeters van Lennep, Jeanine E JE; Sijbrands, Eric J G EJG; Labib, Mourad M; Nair, Devaki D; Humphries, Steve E SE
Publication Date: 2017-08

Variant appearance in text: rs629301
PubMed Link: 28549500
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Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics
Feng, QiPing Q; Wei, Wei-Qi WQ; Levinson, Rebecca T RT; Mosley, Jonathan D JD; Stein, C Michael CM
Publication Date: 2017-10

Variant appearance in text: rs629301
PubMed Link: 28539666
Variant Present in the following documents:
  • Main text
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