LPL c.1421C>A ;(p.S474*)

Variant ID: 8-19819724-C-G

NM_000237.2(LPL):c.1421C>A;(p.S474*)

This variant was identified in 190 publications

View GRCh38 version.




Publications:


Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Genome Medicine
Matuozzo, Daniela D; Talouarn, Estelle E; Marchal, Astrid A; Zhang, Peng P; Manry, Jeremy J; Seeleuthner, Yoann Y; Zhang, Yu Y; Bolze, Alexandre A; Chaldebas, Matthieu M; Milisavljevic, Baptiste B; Gervais, Adrian A; Bastard, Paul P; Asano, Takaki T; Bizien, Lucy L; Barzaghi, Federica F; Abolhassani, Hassan H; Abou Tayoun, Ahmad A; Aiuti, Alessandro A; Alavi Darazam, Ilad I; Allende, Luis M LM; Alonso-Arias, Rebeca R; Arias, Andrés Augusto AA; Aytekin, Gokhan G; Bergman, Peter P; Bondesan, Simone S; Bryceson, Yenan T YT; Bustos, Ingrid G IG; Cabrera-Marante, Oscar O; Carcel, Sheila S; Carrera, Paola P; Casari, Giorgio G; Chaïbi, Khalil K; Colobran, Roger R; Condino-Neto, Antonio A; Covill, Laura E LE; Delmonte, Ottavia M OM; El Zein, Loubna L; Flores, Carlos C; Gregersen, Peter K PK; Gut, Marta M; Haerynck, Filomeen F; Halwani, Rabih R; Hancerli, Selda S; Hammarström, Lennart L; Hatipoğlu, Nevin N; Karbuz, Adem A; Keles, Sevgi S; Kyheng, Christèle C; Leon-Lopez, Rafael R; Franco, Jose Luis JL; Mansouri, Davood D; Martinez-Picado, Javier J; Metin Akcan, Ozge O; Migeotte, Isabelle I; Morange, Pierre-Emmanuel PE; Morelle, Guillaume G; Martin-Nalda, Andrea A; Novelli, Giuseppe G; Novelli, Antonio A; Ozcelik, Tayfun T; Palabiyik, Figen F; Pan-Hammarström, Qiang Q; de Diego, Rebeca Pérez RP; Planas-Serra, Laura L; Pleguezuelo, Daniel E DE; Prando, Carolina C; Pujol, Aurora A; Reyes, Luis Felipe LF; Rivière, Jacques G JG; Rodriguez-Gallego, Carlos C; Rojas, Julian J; Rovere-Querini, Patrizia P; Schlüter, Agatha A; Shahrooei, Mohammad M; Sobh, Ali A; Soler-Palacin, Pere P; Tandjaoui-Lambiotte, Yacine Y; Tipu, Imran I; Tresoldi, Cristina C; Troya, Jesus J; van de Beek, Diederik D; Zatz, Mayana M; Zawadzki, Pawel P; Al-Muhsen, Saleh Zaid SZ; Alosaimi, Mohammed Faraj MF; Alsohime, Fahad M FM; Baris-Feldman, Hagit H; Butte, Manish J MJ; Constantinescu, Stefan N SN; Cooper, Megan A MA; Dalgard, Clifton L CL; Fellay, Jacques J; Heath, James R JR; Lau, Yu-Lung YL; Lifton, Richard P RP; Maniatis, Tom T; Mogensen, Trine H TH; von Bernuth, Horst H; Lermine, Alban A; Vidaud, Michel M; Boland, Anne A; Deleuze, Jean-François JF; Nussbaum, Robert R; Kahn-Kirby, Amanda A; Mentre, France F; Tubiana, Sarah S; Gorochov, Guy G; Tubach, Florence F; Hausfater, Pierre P; , ; , ; , ; , ; , ; , ; , ; , ; , ; Meyts, Isabelle I; Zhang, Shen-Ying SY; Puel, Anne A; Notarangelo, Luigi D LD; Boisson-Dupuis, Stephanie S; Su, Helen C HC; Boisson, Bertrand B; Jouanguy, Emmanuelle E; Casanova, Jean-Laurent JL; Zhang, Qian Q; Abel, Laurent L; Cobat, Aurélie A
Publication Date: 2023-04-05

Variant appearance in text: rs328
PubMed Link: 37020259
Variant Present in the following documents:
  • 13073_2023_Article_1173.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LPL: S474*
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



High producer variant of lipoprotein lipase may protect from hepatocellular carcinoma in alcohol-associated cirrhosis.

Jhep Reports : Innovation In Hepatology
Schmalz, Franziska F; Fischer, Janett J; Innes, Hamish H; Buch, Stephan S; Möller, Christine C; Matz-Soja, Madlen M; von Schönfels, Witigo W; Krämer, Benjamin B; Langhans, Bettina B; Klüners, Alexandra A; Soyka, Michael M; Stickel, Felix F; Nattermann, Jacob J; Strassburg, Christian P CP; Berg, Thomas T; Lutz, Philipp P; Nischalke, Hans Dieter HD
Publication Date: 2023-04

Variant appearance in text: rs328
PubMed Link: 36879887
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc4.pdf
View BVdb publication page



Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.

International Journal Of Molecular Sciences
Rodríguez-Gutiérrez, Perla Graciela PG; Colima-Fausto, Ana Gabriela AG; Zepeda-Olmos, Paola Montserrat PM; Hernández-Flores, Teresita de Jesús TJ; González-García, Juan Ramón JR; Magaña-Torres, María Teresa MT
Publication Date: 2022-12-27

Variant appearance in text: LPL: 1421C>G; S474*; rs328
PubMed Link: 36613909
Variant Present in the following documents:
  • ijms-24-00465.pdf
View BVdb publication page



Polymorphisms, diet and nutrigenomics.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Bonetti, Gabriele G; Donato, Kevin K; Kaftalli, Jurgen J; Herbst, Karen L KL; Stuppia, Liborio L; Fioretti, Francesco F; Nodari, Savina S; Perrone, Marco M; Chiurazzi, Pietro P; Bellinato, Francesco F; Gisondi, Paolo P; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs328
PubMed Link: 36479483
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e125.pdf
View BVdb publication page



Non-alcoholic fatty liver disease across endocrinopathies: Interaction with sex hormones.

Frontiers In Endocrinology
Arefhosseini, Sara S; Ebrahimi-Mameghani, Mehrangiz M; Najafipour, Farzad F; Tutunchi, Helda H
Publication Date: 2022

Variant appearance in text: rs328
PubMed Link: 36419770
Variant Present in the following documents:
  • Main text
  • fendo-13-1032361.pdf
View BVdb publication page



Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.

Molecular Genetics & Genomic Medicine
Jingxin, Shan S; Shitong, Cheng C
Publication Date: 2022-10-13

Variant appearance in text: LPL: S474X
PubMed Link: 36226792
Variant Present in the following documents:
  • Main text
  • MGG3-10-e2070.pdf
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs328
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Outcomes of Genetic Testing-Based Cardiac Rehabilitation Program in Patients with Acute Myocardial Infarction after Percutaneous Coronary Intervention.

Cardiology Research And Practice
Yu, Xing X; Fan, Yuxuan Y; Sun, Xiaopeng X; Wang, Xiaojing X; Guo, Qi Q; Fan, Zhiqing Z
Publication Date: 2022

Variant appearance in text: rs328
PubMed Link: 36032316
Variant Present in the following documents:
  • 9742071.f1.xlsx, sheet 1
  • CRP2022-9742071.pdf
View BVdb publication page



Gene-diet interactions and cardiovascular diseases: a systematic review of observational and clinical trials.

Bmc Cardiovascular Disorders
Roa-Díaz, Zayne M ZM; Teuscher, Julian J; Gamba, Magda M; Bundo, Marvin M; Grisotto, Giorgia G; Wehrli, Faina F; Gamboa, Edna E; Rojas, Lyda Z LZ; Gómez-Ochoa, Sergio A SA; Verhoog, Sanne S; Vargas, Manuel Frias MF; Minder, Beatrice B; Franco, Oscar H OH; Dehghan, Abbas A; Pazoki, Raha R; Marques-Vidal, Pedro P; Muka, Taulant T
Publication Date: 2022-08-20

Variant appearance in text: rs328
PubMed Link: 35987633
Variant Present in the following documents:
  • Main text
  • 12872_2022_Article_2808.pdf
View BVdb publication page



The Association between Single Nucleotide Polymorphisms, including miR-499a Genetic Variants, and Dyslipidemia in Subjects Treated with Pharmacological or Phytochemical Lipid-Lowering Agents.

International Journal Of Molecular Sciences
Giuliani, Angelica A; Montesanto, Alberto A; Matacchione, Giulia G; Graciotti, Laura L; Ramini, Deborah D; Protic, Olga O; Galeazzi, Roberta R; Antonicelli, Roberto R; Tortato, Elena E; Bonfigli, Anna Rita AR; Sabbatinelli, Jacopo J; Olivieri, Fabiola F
Publication Date: 2022-05-17

Variant appearance in text: rs328
PubMed Link: 35628426
Variant Present in the following documents:
  • ijms-23-05617.pdf
View BVdb publication page



Current Perspectives on Nonalcoholic Fatty Liver Disease in Women with Polycystic Ovary Syndrome.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Wang, Dongxu D; He, Bing B
Publication Date: 2022

Variant appearance in text: rs328
PubMed Link: 35494531
Variant Present in the following documents:
  • Main text
  • dmso-15-1281.pdf
View BVdb publication page



Personalized Management and Treatment of Alzheimer's Disease.

Life (Basel, Switzerland)
Cacabelos, Ramón R; Naidoo, Vinogran V; Martínez-Iglesias, Olaia O; Corzo, Lola L; Cacabelos, Natalia N; Pego, Rocío R; Carril, Juan C JC
Publication Date: 2022-03-21

Variant appearance in text: LPL: 1421C>G; rs328
PubMed Link: 35330211
Variant Present in the following documents:
  • life-12-00460.pdf
View BVdb publication page



Apolipoprotein A-V is a potential target for treating coronary artery disease: evidence from genetic and metabolomic analyses.

Journal Of Lipid Research
Ibi, Dorina D; Boot, Manon M; Dollé, Martijn E T MET; Jukema, J Wouter JW; Rosendaal, Frits R FR; Christodoulides, Constantinos C; Neville, Matt J MJ; Koivula, Robert R; Rensen, Patrick C N PCN; Karpe, Fredrik F; Noordam, Raymond R; Willems van Dijk, Ko K
Publication Date: 2022-05

Variant appearance in text: rs328
PubMed Link: 35278410
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page



LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.

Journal Of Translational Medicine
Perrone, Benedetta B; Ruffo, Paola P; Zelasco, Samanta S; Giordano, Cinzia C; Morelli, Catia C; Barone, Ines I; Catalano, Stefania S; Andò, Sebastiano S; Sisci, Diego D; Tripepi, Giovanni G; Mammì, Corrado C; Bonofiglio, Daniela D; Conforti, Francesca Luisa FL
Publication Date: 2022-03-03

Variant appearance in text: LPL: 1421C>G; Ser474Ter; rs328
PubMed Link: 35241092
Variant Present in the following documents:
  • Main text
  • 12967_2022_3314_MOESM2_ESM.pdf
  • 12967_2022_Article_3314.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: rs328
PubMed Link: 34741066
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26761.pdf
View BVdb publication page



A Clinical-Genetic Score for Predicting Weight Loss after Bariatric Surgery: The OBEGEN Study.

Journal Of Personalized Medicine
Ciudin, Andreea A; Fidilio, Enzamaría E; Gutiérrez-Carrasquilla, Liliana L; Caixàs, Assumpta A; Vilarrasa, Núria N; Pellitero, Silvia S; Simó-Servat, Andreu A; Vilallonga, Ramon R; Ruiz, Amador A; de la Fuente, Maricruz M; Luna, Alexis A; Sánchez, Enric E; Rigla, Mercedes M; Hernández, Cristina C; Salas, Eduardo E; Simó, Rafael R; Lecube, Albert A
Publication Date: 2021-10-17

Variant appearance in text: rs328
PubMed Link: 34683180
Variant Present in the following documents:
  • Main text
  • jpm-11-01040.pdf
View BVdb publication page



Physical Exercise: An Overview of Benefits From Psychological Level to Genetics and Beyond.

Frontiers In Physiology
Wang, Yucong Y; Ashokan, Kalaiselvan K
Publication Date: 2021

Variant appearance in text: rs328
PubMed Link: 34456756
Variant Present in the following documents:
  • Main text
  • fphys-12-731858.pdf
View BVdb publication page



Population-Based Impact of Smoking, Drinking, and Genetic Factors on HDL-Cholesterol Levels in J-MICC Study Participants.

Journal Of Epidemiology
Nindita, Yora Y; Nakatochi, Masahiro M; Ibusuki, Rie R; Shimoshikiryo, Ippei I; Nishimoto, Daisaku D; Shimatani, Keiichi K; Takezaki, Toshiro T; Ikezaki, Hiroaki H; Murata, Masayuki M; Hara, Megumi M; Nishida, Yuichiro Y; Tamura, Takashi T; Hishida, Asahi A; Nagayoshi, Mako M; Okada, Rieko R; Matsuo, Keitaro K; Ito, Hidemi H; Mikami, Haruo H; Nakamura, Yohko Y; Otani, Takahiro T; Suzuki, Sadao S; Koyama, Teruhide T; Ozaki, Etsuko E; Kuriki, Kiyonori K; Takashima, Naoyuki N; Miyagawa, Naoko N; Arisawa, Kokichi K; Katsuura-Kamao, Sakurako S; Momozawa, Yukihide Y; Kubo, Michiaki M; Takeuchi, Kenji K; Wakai, Kenji K
Publication Date: 2021-08-21

Variant appearance in text: rs328
PubMed Link: 34421081
Variant Present in the following documents:
  • Main text
  • je-33-193.pdf
View BVdb publication page



X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.

Science Immunology
Asano, Takaki T; Boisson, Bertrand B; Onodi, Fanny F; Matuozzo, Daniela D; Moncada-Velez, Marcela M; Maglorius Renkilaraj, Majistor Raj Luxman MRL; Zhang, Peng P; Meertens, Laurent L; Bolze, Alexandre A; Materna, Marie M; Korniotis, Sarantis S; Gervais, Adrian A; Talouarn, Estelle E; Bigio, Benedetta B; Seeleuthner, Yoann Y; Bilguvar, Kaya K; Zhang, Yu Y; Neehus, Anna-Lena AL; Ogishi, Masato M; Pelham, Simon J SJ; Le Voyer, Tom T; Rosain, Jérémie J; Philippot, Quentin Q; Soler-Palacín, Pere P; Colobran, Roger R; Martin-Nalda, Andrea A; Rivière, Jacques G JG; Tandjaoui-Lambiotte, Yacine Y; Chaïbi, Khalil K; Shahrooei, Mohammad M; Darazam, Ilad Alavi IA; Olyaei, Nasrin Alipour NA; Mansouri, Davood D; Hatipoğlu, Nevin N; Palabiyik, Figen F; Ozcelik, Tayfun T; Novelli, Giuseppe G; Novelli, Antonio A; Casari, Giorgio G; Aiuti, Alessandro A; Carrera, Paola P; Bondesan, Simone S; Barzaghi, Federica F; Rovere-Querini, Patrizia P; Tresoldi, Cristina C; Franco, Jose Luis JL; Rojas, Julian J; Reyes, Luis Felipe LF; Bustos, Ingrid G IG; Arias, Andres Augusto AA; Morelle, Guillaume G; Christèle, Kyheng K; Troya, Jesús J; Planas-Serra, Laura L; Schlüter, Agatha A; Gut, Marta M; Pujol, Aurora A; Allende, Luis M LM; Rodriguez-Gallego, Carlos C; Flores, Carlos C; Cabrera-Marante, Oscar O; Pleguezuelo, Daniel E DE; de Diego, Rebeca Pérez RP; Keles, Sevgi S; Aytekin, Gokhan G; Akcan, Ozge Metin OM; Bryceson, Yenan T YT; Bergman, Peter P; Brodin, Petter P; Smole, Daniel D; Smith, C I Edvard CIE; Norlin, Anna-Carin AC; Campbell, Tessa M TM; Covill, Laura E LE; Hammarström, Lennart L; Pan-Hammarström, Qiang Q; Abolhassani, Hassan H; Mane, Shrikant S; Marr, Nico N; Ata, Manar M; Al Ali, Fatima F; Khan, Taushif T; Spaan, András N AN; Dalgard, Clifton L CL; Bonfanti, Paolo P; Biondi, Andrea A; Tubiana, Sarah S; Burdet, Charles C; Nussbaum, Robert R; Kahn-Kirby, Amanda A; Snow, Andrew L AL; , ; , ; , ; , ; , ; , ; , ; , ; , ; Bustamante, Jacinta J; Puel, Anne A; Boisson-Dupuis, Stéphanie S; Zhang, Shen-Ying SY; Béziat, Vivien V; Lifton, Richard P RP; Bastard, Paul P; Notarangelo, Luigi D LD; Abel, Laurent L; Su, Helen C HC; Jouanguy, Emmanuelle E; Amara, Ali A; Soumelis, Vassili V; Cobat, Aurélie A; Zhang, Qian Q; Casanova, Jean-Laurent JL
Publication Date: 2021-08-19

Variant appearance in text: rs328
PubMed Link: 34413140
Variant Present in the following documents:
  • sciimmunol.abl4348.pdf
View BVdb publication page



Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis.

Scientific Reports
Hariharan, Praveen P; Dupuis, Josée J
Publication Date: 2021-08-12

Variant appearance in text: rs328
PubMed Link: 34385509
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95637.pdf
View BVdb publication page



GPIHBP1 and ANGPTL4 Utilize Protein Disorder to Orchestrate Order in Plasma Triglyceride Metabolism and Regulate Compartmentalization of LPL Activity.

Frontiers In Cell And Developmental Biology
Kristensen, Kristian Kølby KK; Leth-Espensen, Katrine Zinck KZ; Kumari, Anni A; Grønnemose, Anne Louise AL; Lund-Winther, Anne-Marie AM; Young, Stephen G SG; Ploug, Michael M
Publication Date: 2021

Variant appearance in text: LPL: Ser474ter
PubMed Link: 34336854
Variant Present in the following documents:
  • fcell-09-702508.pdf
View BVdb publication page



Genetic factors increase the identification efficiency of predictive models for dyslipidaemia: a prospective cohort study.

Lipids In Health And Disease
Niu, Miaomiao M; Zhang, Liying L; Wang, Yikang Y; Tu, Runqi R; Liu, Xiaotian X; Hou, Jian J; Huo, Wenqian W; Mao, Zhenxing Z; Wang, Zhenfei Z; Wang, Chongjian C
Publication Date: 2021-02-12

Variant appearance in text: rs328
PubMed Link: 33579296
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1439.pdf
View BVdb publication page



Causal Relationship between Adiponectin and Diabetic Retinopathy: A Mendelian Randomization Study in an Asian Population.

Genes
Huang, Yu-Chuen YC; Chang, Ya-Wen YW; Cheng, Chun-Wen CW; Wu, Chia-Ming CM; Liao, Wen-Ling WL; Tsai, Fuu-Jen FJ
Publication Date: 2020-12-24

Variant appearance in text: rs328
PubMed Link: 33374471
Variant Present in the following documents:
  • Main text
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: LPL: S474X; rs328
PubMed Link: 33339817
Variant Present in the following documents:
  • Main text
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 12
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 15
View BVdb publication page



Candidate Gene Analysis Reveals Strong Association of CETP Variants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study.

Frontiers In Genetics
Agongo, Godfred G; Amenga-Etego, Lucas L; Nonterah, Engelbert A EA; Debpuur, Cornelius C; Choudhury, Ananyo A; Bentley, Amy R AR; Oduro, Abraham R AR; Rotimi, Charles N CN; Crowther, Nigel J NJ; Ramsay, Michèle M; , ; H Africa,
Publication Date: 2020

Variant appearance in text: rs328
PubMed Link: 33193594
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants of Lipoprotein Lipase and Regulatory Factors Associated with Alzheimer's Disease Risk.

International Journal Of Molecular Sciences
D Bruce, Kimberley K; Tang, Maoping M; Reigan, Philip P; H Eckel, Robert R
Publication Date: 2020-11-06

Variant appearance in text: rs328
PubMed Link: 33172164
Variant Present in the following documents:
  • Main text
  • ijms-21-08338.pdf
View BVdb publication page



A comparison of a ketogenic diet with a LowGI/nutrigenetic diet over 6 months for weight loss and 18-month follow-up.

Bmc Nutrition
Vranceanu, Maria M; Pickering, Craig C; Filip, Lorena L; Pralea, Ioana Ecaterina IE; Sundaram, Senthil S; Al-Saleh, Aseel A; Popa, Daniela-Saveta DS; Grimaldi, Keith A KA
Publication Date: 2020

Variant appearance in text: rs328
PubMed Link: 32983551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)
Chuluun-Erdene, Ariunbold A; Sengeragchaa, Orgil O; Altangerel, Tsend-Ayush TA; Sanjmyatav, Purevjal P; Dagdan, Batnaran B; Battulga, Solongo S; Enkhbat, Lundiamaa L; Byambasuren, Nyamjav N; Malchinkhuu, Munkhzol M; Janlav, Munkhtstetseg M
Publication Date: 2020-09-02

Variant appearance in text: rs328
PubMed Link: 32887252
Variant Present in the following documents:
  • Main text
  • medsci-08-00038.pdf
View BVdb publication page



Association of polymorphism genes , , and with risk of hyperinsulinism and insulin resistance in the Kazakh population.

Biomedical Reports
Shakhanova, Aizhan A; Aukenov, Nurlan N; Nurtazina, Alma A; Massabayeva, Meruyert M; Babenko, Dmitriy D; Adiyeva, Madina M; Shaimardonov, Nurlan N
Publication Date: 2020-11

Variant appearance in text: rs328
PubMed Link: 32843963
Variant Present in the following documents:
  • Main text
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Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies.

Journal Of Lipid And Atherosclerosis
Bu, So Young SY
Publication Date: 2019-09

Variant appearance in text: rs328
PubMed Link: 32821703
Variant Present in the following documents:
  • Main text
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Genetics of Hypertriglyceridemia.

Frontiers In Endocrinology
Dron, Jacqueline S JS; Hegele, Robert A RA
Publication Date: 2020

Variant appearance in text: LPL: Ser474Ter
PubMed Link: 32793115
Variant Present in the following documents:
  • Main text
  • fendo-11-00455.pdf
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Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Nature Genetics
Vujkovic, Marijana M; Keaton, Jacob M JM; Lynch, Julie A JA; Miller, Donald R DR; Zhou, Jin J; Tcheandjieu, Catherine C; Huffman, Jennifer E JE; Assimes, Themistocles L TL; Lorenz, Kimberly K; Zhu, Xiang X; Hilliard, Austin T AT; Judy, Renae L RL; Huang, Jie J; Lee, Kyung M KM; Klarin, Derek D; Pyarajan, Saiju S; Danesh, John J; Melander, Olle O; Rasheed, Asif A; Mallick, Nadeem H NH; Hameed, Shahid S; Qureshi, Irshad H IH; Afzal, Muhammad Naeem MN; Malik, Uzma U; Jalal, Anjum A; Abbas, Shahid S; Sheng, Xin X; Gao, Long L; Kaestner, Klaus H KH; Susztak, Katalin K; Sun, Yan V YV; DuVall, Scott L SL; Cho, Kelly K; Lee, Jennifer S JS; Gaziano, J Michael JM; Phillips, Lawrence S LS; Meigs, James B JB; Reaven, Peter D PD; Wilson, Peter W PW; Edwards, Todd L TL; Rader, Daniel J DJ; Damrauer, Scott M SM; O'Donnell, Christopher J CJ; Tsao, Philip S PS; , ; , ; , ; Chang, Kyong-Mi KM; Voight, Benjamin F BF; Saleheen, Danish D
Publication Date: 2020-07

Variant appearance in text: rs328
PubMed Link: 32541925
Variant Present in the following documents:
  • Main text
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Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Global Heart
Alnouri, Fahad F; Al-Allaf, Faisal A FA; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Alabdullah, Moheeb M; Alammari, Dalal D; Alanazi, Menwar M; Alkaf, Fahmi F; Allehyani, Abeer A; Alotaiby, Mohammad A MA; Alshehri, Abdullah A; Bouazzaoui, Abdellatif A; Karrar, Hussam H; Taher, Mohiuddin M MM
Publication Date: 2020-02-28

Variant appearance in text: LPL: 1421C>G; S474*; rs328
PubMed Link: 32489792
Variant Present in the following documents:
  • Main text
  • gh-15-1-759.pdf
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Genetics Insights in the Relationship Between Type 2 Diabetes and Coronary Heart Disease.

Circulation Research
Goodarzi, Mark O MO; Rotter, Jerome I JI
Publication Date: 2020-05-22

Variant appearance in text: rs328
PubMed Link: 32437307
Variant Present in the following documents:
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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV
Publication Date: 2020-05-14

Variant appearance in text: LPL: Ser474*
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
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Genetic Polymorphisms, Mediterranean Diet and Microbiota-Associated Urolithin Metabotypes can Predict Obesity in Childhood-Adolescence.

Scientific Reports
Cortés-Martín, Adrián A; Colmenarejo, Gonzalo G; Selma, María Victoria MV; Espín, Juan Carlos JC
Publication Date: 2020-05-12

Variant appearance in text: rs328
PubMed Link: 32398726
Variant Present in the following documents:
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The Impact of Aerobic Exercise and Badminton on HDL Cholesterol Levels in Taiwanese Adults.

Nutrients
Nassef, Yasser Y; Lee, Kuan-Jung KJ; Nfor, Oswald Ndi ON; Tantoh, Disline Manli DM; Chou, Ming-Chih MC; Liaw, Yung-Po YP
Publication Date: 2020-04-25

Variant appearance in text: rs328
PubMed Link: 32344797
Variant Present in the following documents:
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Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.

Lipids In Health And Disease
Li, Xiao-Yao XY; Pu, Na N; Chen, Wei-Wei WW; Shi, Xiao-Lei XL; Zhang, Guo-Fu GF; Ke, Lu L; Ye, Bo B; Tong, Zhi-Hui ZH; Wang, Yu-Hui YH; Liu, George G; Chen, Jian-Min JM; Yang, Qi Q; Li, Wei-Qin WQ; Li, Jie-Shou JS
Publication Date: 2020-04-07

Variant appearance in text: LPL: Ser474*
PubMed Link: 32264896
Variant Present in the following documents:
  • Main text
  • 12944_2020_Article_1249.pdf
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A lipase fusion feasts on fat.

The Journal Of Biological Chemistry
Ruppert, Philip M M PMM; Kersten, Sander S
Publication Date: 2020-03-06

Variant appearance in text: LPL: S474X
PubMed Link: 32144145
Variant Present in the following documents:
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Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K
Publication Date: 2020-12-01

Variant appearance in text: LPL: 1421C>G; S474X; rs328
PubMed Link: 32115487
Variant Present in the following documents:
  • jat-27-1264.pdf
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