ABCG8 c.166-718G>T

Variant ID: 2-44072576-G-T

NM_022437.2(ABCG8):c.166-718G>T

This variant was identified in 68 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: rs4299376
PubMed Link: 37183858
Variant Present in the following documents:
  • Main text
  • JAH3-12-e029223.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: rs4299376
PubMed Link: 36643796
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: rs4299376
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The causal association between maternal smoking around birth on childhood asthma: A Mendelian randomization study.

Frontiers In Public Health
Ding, Zijun Z; Pang, Lei L; Chai, Hongqiang H; Li, Fei F; Wu, Ming M
Publication Date: 2022

Variant appearance in text: rs4299376
PubMed Link: 36408054
Variant Present in the following documents:
  • Main text
  • fpubh-10-1059195.pdf
View BVdb publication page



Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.

Diagnostics (Basel, Switzerland)
Zarkasi, Khairul Anwar KA; Abdullah, Noraidatulakma N; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R
Publication Date: 2022-10-21

Variant appearance in text: rs4299376
PubMed Link: 36292250
Variant Present in the following documents:
  • diagnostics-12-02561.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: rs4299376
PubMed Link: 36105085
Variant Present in the following documents:
  • Main text
  • fgene-13-971651.pdf
View BVdb publication page



Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Diabetology & Metabolic Syndrome
Lee, Sanghoo S; Kim, Seol-A SA; Hong, Jeonghoon J; Kim, Yejin Y; Hong, Gayeon G; Baik, SaeYun S; Choi, Kyeonghwan K; Lee, Mi-Kyeong MK; Lee, Kyoung-Ryul KR
Publication Date: 2022-08-23

Variant appearance in text: rs4299376
PubMed Link: 35999587
Variant Present in the following documents:
  • Main text
  • 13098_2022_Article_893.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: rs4299376
PubMed Link: 35703387
Variant Present in the following documents:
  • JAH3-11-e025361.pdf
  • JAH3-11-e025361-s001.pdf
View BVdb publication page



Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.

Nature Communications
Yin, Xianyong X; Chan, Lap Sum LS; Bose, Debraj D; Jackson, Anne U AU; VandeHaar, Peter P; Locke, Adam E AE; Fuchsberger, Christian C; Stringham, Heather M HM; Welch, Ryan R; Yu, Ketian K; Fernandes Silva, Lilian L; Service, Susan K SK; Zhang, Daiwei D; Hector, Emily C EC; Young, Erica E; Ganel, Liron L; Das, Indraniel I; Abel, Haley H; Erdos, Michael R MR; Bonnycastle, Lori L LL; Kuusisto, Johanna J; Stitziel, Nathan O NO; Hall, Ira M IM; Wagner, Gregory R GR; , ; Kang, Jian J; Morrison, Jean J; Burant, Charles F CF; Collins, Francis S FS; Ripatti, Samuli S; Palotie, Aarno A; Freimer, Nelson B NB; Mohlke, Karen L KL; Scott, Laura J LJ; Wen, Xiaoquan X; Fauman, Eric B EB; Laakso, Markku M; Boehnke, Michael M
Publication Date: 2022-03-28

Variant appearance in text: rs4299376
PubMed Link: 35347128
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29143.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: rs4299376
PubMed Link: 35322671
Variant Present in the following documents:
  • Main text
  • JAH3-11-e023668.pdf
View BVdb publication page



How Can We Identify Very High-Risk Heterozygous Familial Hypercholesterolemia?

Journal Of Atherosclerosis And Thrombosis
Kataoka, Yu Y; Funabashi, Sayaka S; Doi, Takahito T; Harada-Shiba, Mariko M
Publication Date: 2022-06-01

Variant appearance in text: rs4299376
PubMed Link: 35022364
Variant Present in the following documents:
  • jat-29-795.pdf
View BVdb publication page



Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.

Nature Communications
Scholz, Markus M; Horn, Katrin K; Pott, Janne J; Gross, Arnd A; Kleber, Marcus E ME; Delgado, Graciela E GE; Mishra, Pashupati Prasad PP; Kirsten, Holger H; Gieger, Christian C; Müller-Nurasyid, Martina M; Tönjes, Anke A; Kovacs, Peter P; Lehtimäki, Terho T; Raitakari, Olli O; Kähönen, Mika M; Gylling, Helena H; Baber, Ronny R; Isermann, Berend B; Stumvoll, Michael M; Loeffler, Markus M; März, Winfried W; Meitinger, Thomas T; Peters, Annette A; Thiery, Joachim J; Teupser, Daniel D; Ceglarek, Uta U
Publication Date: 2022-01-10

Variant appearance in text: rs4299376
PubMed Link: 35013273
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27706.pdf
View BVdb publication page



Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis.

Nature Communications
Scholz, Markus M; Horn, Katrin K; Pott, Janne J; Gross, Arnd A; Kleber, Marcus E ME; Delgado, Graciela E GE; Mishra, Pashupati Prasad PP; Kirsten, Holger H; Gieger, Christian C; Müller-Nurasyid, Martina M; Tönjes, Anke A; Kovacs, Peter P; Lehtimäki, Terho T; Raitakari, Olli O; Kähönen, Mika M; Gylling, Helena H; Baber, Ronny R; Isermann, Berend B; Stumvoll, Michael M; Loeffler, Markus M; März, Winfried W; Meitinger, Thomas T; Peters, Annette A; Thiery, Joachim J; Teupser, Daniel D; Ceglarek, Uta U
Publication Date: 2022-01-10

Variant appearance in text: rs4299376
PubMed Link: 35013273
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27706.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: ABCG8: 166-718G>T; rs4299376
PubMed Link: 34829957
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01728.pdf
View BVdb publication page



Associations between SNPs in Intestinal Cholesterol Absorption and Endogenous Cholesterol Synthesis Genes with Cholesterol Metabolism.

Biomedicines
Schroor, Maite M MM; Mokhtar, Fatma B A FBA; Plat, Jogchum J; Mensink, Ronald P RP
Publication Date: 2021-10-14

Variant appearance in text: rs4299376
PubMed Link: 34680591
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01475.pdf
View BVdb publication page



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: rs4299376
PubMed Link: 34521694
Variant Present in the following documents:
  • heartjnl-2021-319742supp001.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: rs4299376
PubMed Link: 34183656
Variant Present in the following documents:
  • 41467_2021_23899_MOESM1_ESM.pdf
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: rs4299376
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: rs4299376
PubMed Link: 33854068
Variant Present in the following documents:
  • 41525_2021_190_MOESM1_ESM.pdf
View BVdb publication page



A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits.

Nature Communications
Foley, Christopher N CN; Staley, James R JR; Breen, Philip G PG; Sun, Benjamin B BB; Kirk, Paul D W PDW; Burgess, Stephen S; Howson, Joanna M M JMM
Publication Date: 2021-02-03

Variant appearance in text: rs4299376
PubMed Link: 33536417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: ABCG8: 166-718G>T; rs4299376
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
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: rs4299376
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: rs4299376
PubMed Link: 33381656
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-5-18125.pdf
View BVdb publication page



Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs4299376
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.

European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Stefansson, Kari K
Publication Date: 2021-01-20

Variant appearance in text: rs4299376
PubMed Link: 33167008
Variant Present in the following documents:
  • Main text
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: rs4299376
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: rs4299376
PubMed Link: 32942679
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00353.pdf
  • biomedicines-08-00353-s001.pdf
View BVdb publication page



Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease.

European Heart Journal
Helgadottir, Anna A; Thorleifsson, Gudmar G; Alexandersson, Kristjan F KF; Tragante, Vinicius V; Thorsteinsdottir, Margret M; Eiriksson, Finnur F FF; Gretarsdottir, Solveig S; Björnsson, Eythór E; Magnusson, Olafur O; Sveinbjornsson, Gardar G; Jonsdottir, Ingileif I; Steinthorsdottir, Valgerdur V; Ferkingstad, Egil E; Jensson, Brynjar Ö BÖ; Stefansson, Hreinn H; Olafsson, Isleifur I; Christensen, Alex H AH; Torp-Pedersen, Christian C; Køber, Lars L; Pedersen, Ole B OB; Erikstrup, Christian C; Sørensen, Erik E; Brunak, Søren S; Banasik, Karina K; Hansen, Thomas F TF; Nyegaard, Mette M; Eyjolfssson, Gudmundur I GI; Sigurdardottir, Olof O; Thorarinsson, Bjorn L BL; Matthiasson, Stefan E SE; Steingrimsdottir, Thora T; Bjornsson, Einar S ES; Danielsen, Ragnar R; Asselbergs, Folkert W FW; Arnar, David O DO; Ullum, Henrik H; Bundgaard, Henning H; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Thorgeirsson, Gudmundur G; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2020-07-21

Variant appearance in text: rs4299376
PubMed Link: 32702746
Variant Present in the following documents:
  • Main text
  • ehaa531.pdf
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: rs4299376
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: rs4299376
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: rs4299376
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



LDL-C plays a causal role on T2DM: a Mendelian randomization analysis.

Aging
Pan, Wenbin W; Sun, Weiju W; Yang, Shuo S; Zhuang, He H; Jiang, Huijie H; Ju, Hong H; Wang, Donghua D; Han, Ying Y
Publication Date: 2020-02-10

Variant appearance in text: rs4299376
PubMed Link: 32040442
Variant Present in the following documents:
  • Main text
  • aging-12-102763.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: rs4299376
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
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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: rs4299376
PubMed Link: 31011892
Variant Present in the following documents:
  • Main text
  • 11886_2019_Article_1130.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: rs4299376
PubMed Link: 30371334
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: rs4299376
PubMed Link: 30326043
Variant Present in the following documents:
  • jamacardiol-3-957-s001.pdf
View BVdb publication page



Polygenic Risk Score for Coronary Heart Disease Modifies the Elevated Risk by Cigarette Smoking for Disease Incidence.

Circulation. Genomic And Precision Medicine
Hindy, George G; Wiberg, Frans F; Almgren, Peter P; Melander, Olle O; Orho-Melander, Marju M
Publication Date: 2018-01

Variant appearance in text: rs4299376
PubMed Link: 29874179
Variant Present in the following documents:
  • hcg-11-e001856-s001.pdf
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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: rs4299376
PubMed Link: 29375475
Variant Present in the following documents:
  • Main text
  • fendo-08-00368.pdf
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An update on the pathogenesis of cholesterol gallstone disease.

Current Opinion In Gastroenterology
Di Ciaula, Agostino A; Wang, David Q-H DQ; Portincasa, Piero P
Publication Date: 2018-03

Variant appearance in text: rs4299376
PubMed Link: 29283909
Variant Present in the following documents:
  • Main text
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A comparison of Cox and logistic regression for use in genome-wide association studies of cohort and case-cohort design.

European Journal Of Human Genetics : Ejhg
Staley, James R JR; Jones, Edmund E; Kaptoge, Stephen S; Butterworth, Adam S AS; Sweeting, Michael J MJ; Wood, Angela M AM; Howson, Joanna M M JMM
Publication Date: 2017-06

Variant appearance in text: rs4299376
PubMed Link: 28594416
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: rs4299376
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: rs4299376
PubMed Link: 28549500
Variant Present in the following documents:
  • Main text
  • main.pdf
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Clinical Perspectives of Genetic Analyses on Dyslipidemia and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Kawashiri, Masa-Aki MA; Yamagishi, Masakazu M
Publication Date: 2017-05-01

Variant appearance in text: rs4299376
PubMed Link: 28250266
Variant Present in the following documents:
  • jat-24-452.pdf
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Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.

Jama
Lotta, Luca A LA; Sharp, Stephen J SJ; Burgess, Stephen S; Perry, John R B JRB; Stewart, Isobel D ID; Willems, Sara M SM; Luan, Jian'an J; Ardanaz, Eva E; Arriola, Larraitz L; Balkau, Beverley B; Boeing, Heiner H; Deloukas, Panos P; Forouhi, Nita G NG; Franks, Paul W PW; Grioni, Sara S; Kaaks, Rudolf R; Key, Timothy J TJ; Navarro, Carmen C; Nilsson, Peter M PM; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Quirós, Jose-Ramón JR; Riboli, Elio E; Rolandsson, Olov O; Sacerdote, Carlotta C; Salamanca, Elena C EC; Slimani, Nadia N; Spijkerman, Annemieke Mw AM; Tjonneland, Anne A; Tumino, Rosario R; van der A, Daphne L DL; van der Schouw, Yvonne T YT; McCarthy, Mark I MI; Barroso, Inês I; O'Rahilly, Stephen S; Savage, David B DB; Sattar, Naveed N; Langenberg, Claudia C; Scott, Robert A RA; Wareham, Nicholas J NJ
Publication Date: 2016-10-04

Variant appearance in text: rs4299376
PubMed Link: 27701660
Variant Present in the following documents:
  • Main text
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Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.

Gastroenterology
Joshi, Amit D AD; Andersson, Charlotte C; Buch, Stephan S; Stender, Stefan S; Noordam, Raymond R; Weng, Lu-Chen LC; Weeke, Peter E PE; Auer, Paul L PL; Boehm, Bernhard B; Chen, Constance C; Choi, Hyon H; Curhan, Gary G; Denny, Joshua C JC; De Vivo, Immaculata I; Eicher, John D JD; Ellinghaus, David D; Folsom, Aaron R AR; Fuchs, Charles C; Gala, Manish M; Haessler, Jeffrey J; Hofman, Albert A; Hu, Frank F; Hunter, David J DJ; Janssen, Harry L A HL; Kang, Jae H JH; Kooperberg, Charles C; Kraft, Peter P; Kratzer, Wolfgang W; Lieb, Wolfgang W; Lutsey, Pamela L PL; Darwish Murad, Sarwa S; Nordestgaard, Børge G BG; Pasquale, Louis R LR; Reiner, Alex P AP; Ridker, Paul M PM; Rimm, Eric E; Rose, Lynda M LM; Shaffer, Christian M CM; Schafmayer, Clemens C; Tamimi, Rulla M RM; Uitterlinden, André G AG; Völker, Uwe U; Völzke, Henry H; Wakabayashi, Yoshiyuki Y; Wiggs, Janey L JL; Zhu, Jun J; Roden, Dan M DM; Stricker, Bruno H BH; Tang, Weihong W; Teumer, Alexander A; Hampe, Jochen J; Tybjærg-Hansen, Anne A; Chasman, Daniel I DI; Chan, Andrew T AT; Johnson, Andrew D AD
Publication Date: 2016-08

Variant appearance in text: rs4299376
PubMed Link: 27094239
Variant Present in the following documents:
  • Main text
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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: rs4299376
PubMed Link: 26690388
Variant Present in the following documents:
  • ncomms10206-s1.pdf
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Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg
Rodriguez, Santiago S; Gaunt, Tom R TR; Guo, Yiran Y; Zheng, Jie J; Barnes, Michael R MR; Tang, Weihang W; Danish, Fazal F; Johnson, Andrew A; Castillo, Berta A BA; Li, Yun R YR; Hakonarson, Hakon H; Buxbaum, Sarah G SG; Palmer, Tom T; Tsai, Michael Y MY; Lange, Leslie A LA; Ebrahim, Shah S; Davey Smith, George G; Lawlor, Debbie A DA; Folsom, Aaron R AR; Hoogeveen, Ron R; Reiner, Alex A; Keating, Brendan B; Day, Ian N M IN
Publication Date: 2016-01

Variant appearance in text: rs4299376
PubMed Link: 25920552
Variant Present in the following documents:
  • Main text
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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: rs4299376
PubMed Link: 25751400
Variant Present in the following documents:
  • ncomms7065-s1.pdf
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Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
Futema, Marta M; Shah, Sonia S; Cooper, Jackie A JA; Li, KaWah K; Whittall, Ros A RA; Sharifi, Mahtab M; Goldberg, Olivia O; Drogari, Euridiki E; Mollaki, Vasiliki V; Wiegman, Albert A; Defesche, Joep J; D'Agostino, Maria N MN; D'Angelo, Antonietta A; Rubba, Paolo P; Fortunato, Giuliana G; Waluś-Miarka, Małgorzata M; Hegele, Robert A RA; Aderayo Bamimore, Mary M; Durst, Ronen R; Leitersdorf, Eran E; Mulder, Monique T MT; Roeters van Lennep, Jeanine E JE; Sijbrands, Eric J G EJ; Whittaker, John C JC; Talmud, Philippa J PJ; Humphries, Steve E SE
Publication Date: 2015-01

Variant appearance in text: rs4299376
PubMed Link: 25414277
Variant Present in the following documents:
  • Main text
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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: rs4299376
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
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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: rs4299376
PubMed Link: 25050552
Variant Present in the following documents:
  • Main text
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Genetic determinants of long-term changes in blood lipid concentrations: 10-year follow-up of the GLACIER study.

Plos Genetics
Varga, Tibor V TV; Sonestedt, Emily E; Shungin, Dmitry D; Koivula, Robert W RW; Hallmans, Göran G; Escher, Stefan A SA; Barroso, Inês I; Nilsson, Peter P; Melander, Olle O; Orho-Melander, Marju M; Renström, Frida F; Franks, Paul W PW
Publication Date: 2014-06

Variant appearance in text: rs4299376
PubMed Link: 24922540
Variant Present in the following documents:
  • Main text
  • pgen.1004388.pdf
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Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics
Holmen, Oddgeir L OL; Zhang, He H; Fan, Yanbo Y; Hovelson, Daniel H DH; Schmidt, Ellen M EM; Zhou, Wei W; Guo, Yanhong Y; Zhang, Ji J; Langhammer, Arnulf A; Løchen, Maja-Lisa ML; Ganesh, Santhi K SK; Vatten, Lars L; Skorpen, Frank F; Dalen, Håvard H; Zhang, Jifeng J; Pennathur, Subramaniam S; Chen, Jin J; Platou, Carl C; Mathiesen, Ellisiv B EB; Wilsgaard, Tom T; Njølstad, Inger I; Boehnke, Michael M; Chen, Y Eugene YE; Abecasis, Gonçalo R GR; Hveem, Kristian K; Willer, Cristen J CJ
Publication Date: 2014-04

Variant appearance in text: rs4299376
PubMed Link: 24633158
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: rs4299376
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: rs4299376
PubMed Link: 24096969
Variant Present in the following documents:
  • Main text
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Non-cholesterol sterol levels predict hyperglycemia and conversion to type 2 diabetes in Finnish men.

Plos One
Cederberg, Henna H; Gylling, Helena H; Miettinen, Tatu A TA; Paananen, Jussi J; Vangipurapu, Jagadish J; Pihlajamäki, Jussi J; Kuulasmaa, Teemu T; Stančáková, Alena A; Smith, Ulf U; Kuusisto, Johanna J; Laakso, Markku M
Publication Date: 2013

Variant appearance in text: rs4299376
PubMed Link: 23840693
Variant Present in the following documents:
  • Main text
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Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol.

Journal Of Lipid Research
Kim, Daniel S DS; Burt, Amber A AA; Ranchalis, Jane E JE; Jarvik, Ella R ER; Rosenthal, Elisabeth A EA; Hatsukami, Thomas S TS; Furlong, Clement E CE; Jarvik, Gail P GP
Publication Date: 2013-05

Variant appearance in text: rs4299376
PubMed Link: 23482652
Variant Present in the following documents:
  • Main text
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