LIPG c.1187A>G ;(p.N396S)

Variant ID: 18-47109955-A-G

NM_006033.2(LIPG):c.1187A>G;(p.N396S)

This variant was identified in 77 publications

View GRCh38 version.




Publications:


A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: LIPG: N396S
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: LIPG: 1187A>G; Asn396Ser
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

International Journal Of Molecular Sciences
Pan-Lizcano, Ricardo R; Mariñas-Pardo, Luis L; Núñez, Lucía L; Rebollal-Leal, Fernando F; López-Vázquez, Domingo D; Pereira, Ana A; Molina-Nieto, Aranzazu A; Calviño, Ramón R; Vázquez-Rodríguez, Jose Manuel JM; Hermida-Prieto, Manuel M
Publication Date: 2022-12-17

Variant appearance in text: LIPG: 1187A>G; N396S; rs77960347
PubMed Link: 36555767
Variant Present in the following documents:
  • ijms-23-16127.pdf
View BVdb publication page



The Role of Calcium, 25-Hydroxyvitamin D, and Parathyroid Hormone in Irritable Bowel Syndrome: A Bidirectional Two-Sample Mendelian Randomization Study.

Nutrients
Xie, Ning N; Xie, Jiale J; Wang, Ziwei Z; Shu, Qiuai Q; Shi, Haitao H; Wang, Jinhai J; Liu, Na N; Xu, Feng F; Wu, Jian J
Publication Date: 2022-12-01

Variant appearance in text: rs77960347
PubMed Link: 36501135
Variant Present in the following documents:
  • Main text
  • nutrients-14-05109.pdf
View BVdb publication page



Genetic mimicry analysis reveals the specific lipases targeted by the ANGPTL3/ANGPTL8 complex and ANGPTL4.

Journal Of Lipid Research
Landfors, Fredrik F; Chorell, Elin E; Kersten, Sander S
Publication Date: 2022-11-10

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 36372100
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The causal association of polyunsaturated fatty acids with allergic disease: A two-sample Mendelian randomization study.

Frontiers In Nutrition
Li, Yajia Y; Li, Qiangxiang Q; Cao, Ziqin Z; Wu, Jianhuang J
Publication Date: 2022

Variant appearance in text: rs77960347
PubMed Link: 36159460
Variant Present in the following documents:
  • Main text
  • fnut-09-962787.pdf
View BVdb publication page



Mendelian Randomization Study of Causal Relationship between Omega-3 Fatty Acids and Risk of Lung Cancer.

Biomed Research International
Liu, Xin X; Peng, Yanzhi Y; Tao, Ru R; Meng, Ling L; Li, Xuehua X
Publication Date: 2022

Variant appearance in text: rs77960347
PubMed Link: 35686230
Variant Present in the following documents:
  • BMRI2022-2786567.pdf
View BVdb publication page



Addressing dyslipidemic risk beyond LDL-cholesterol.

The Journal Of Clinical Investigation
Tall, Alan R AR; Thomas, David G DG; Gonzalez-Cabodevilla, Ainara G AG; Goldberg, Ira J IJ
Publication Date: 2022-01-04

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 34981790
Variant Present in the following documents:
  • Main text
  • jci-132-148559.pdf
View BVdb publication page



Addressing dyslipidemic risk beyond LDL-cholesterol.

The Journal Of Clinical Investigation
Tall, Alan R AR; Thomas, David G DG; Gonzalez-Cabodevilla, Ainara G AG; Goldberg, Ira J IJ
Publication Date: 2022-01-04

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 34981790
Variant Present in the following documents:
  • Main text
  • jci-132-148559.pdf
View BVdb publication page



Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins.

Plos Genetics
Khetarpal, Sumeet A SA; Vitali, Cecilia C; Levin, Michael G MG; Klarin, Derek D; Park, Joseph J; Pampana, Akhil A; Millar, John S JS; Kuwano, Takashi T; Sugasini, Dhavamani D; Subbaiah, Papasani V PV; Billheimer, Jeffrey T JT; Natarajan, Pradeep P; Rader, Daniel J DJ
Publication Date: 2021-09

Variant appearance in text: LIPG: Asn396Ser; rs77960347
PubMed Link: 34543263
Variant Present in the following documents:
  • Main text
  • pgen.1009802.pdf
View BVdb publication page



HDL in Atherosclerotic Cardiovascular Disease: In Search of a Role.

Cells
Casula, Manuela M; Colpani, Ornella O; Xie, Sining S; Catapano, Alberico L AL; Baragetti, Andrea A
Publication Date: 2021-07-23

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 34440638
Variant Present in the following documents:
  • Main text
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: rs77960347
PubMed Link: 34385509
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95637.pdf
View BVdb publication page



Changing Perspectives on HDL: From Simple Quantity Measurements to Functional Quality Assessment.

Journal Of Lipids
Thakkar, Himani H; Vincent, Vinnyfred V; Sen, Atanu A; Singh, Archna A; Roy, Ambuj A
Publication Date: 2021

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 33996157
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic evidence for independent causal relationships between metabolic biomarkers and risk of coronary artery diseases.

Journal Of Lipid Research
Allayee, Hooman H
Publication Date: 2021-03-08

Variant appearance in text: LIPG: N396S
PubMed Link: 33705740
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic evidence for independent causal relationships between metabolic biomarkers and risk of coronary artery diseases.

Journal Of Lipid Research
Allayee, Hooman H
Publication Date: 2021

Variant appearance in text: LIPG: N396S
PubMed Link: 33705740
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



High-Density Lipoprotein Cholesterol and the Risk of Myocardial Infarction, Stroke, and Cause-Specific Mortality: a Nationwide Cohort Study in Korea.

Journal Of Lipid And Atherosclerosis
Yang, Yeoree Y; Han, Kyungdo K; Park, Sang Hyun SH; Kim, Mee Kyoung MK; Yoon, Kun-Ho KH; Lee, Seung-Hwan SH
Publication Date: 2021-01

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 33537255
Variant Present in the following documents:
  • Main text
  • jla-10-74.pdf
View BVdb publication page



High HDL-Cholesterol Paradox: SCARB1-LAG3-HDL Axis.

Current Atherosclerosis Reports
Rodriguez, Annabelle A
Publication Date: 2021-01-05

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 33398433
Variant Present in the following documents:
  • Main text
  • 11883_2020_Article_902.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: rs77960347
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



A Journey through Genetic Architecture and Predisposition of Coronary Artery Disease.

Current Genomics
Roberts, Robert R; Chang, Chih Chao CC
Publication Date: 2020-08

Variant appearance in text: LIPG: ASN396SER
PubMed Link: 33093801
Variant Present in the following documents:
  • Main text
  • CG-21-382.pdf
View BVdb publication page



Lipid and metabolic syndrome traits in coronary artery disease: a Mendelian randomization study.

Journal Of Lipid Research
Thomas, David G DG; Wei, Ying Y; Tall, Alan R AR
Publication Date: 2021-02-06

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 32907989
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Lipid and metabolic syndrome traits in coronary artery disease: a Mendelian randomization study.

Journal Of Lipid Research
Thomas, David G DG; Wei, Ying Y; Tall, Alan R AR
Publication Date: 2021

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 32907989
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Angiopoietin-like protein 3 governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance.

Journal Of Lipid Research
Adam, Rene C RC; Mintah, Ivory J IJ; Alexa-Braun, Corey A CA; Shihanian, Lisa M LM; Lee, Joseph S JS; Banerjee, Poulabi P; Hamon, Sara C SC; Kim, Hye In HI; Cohen, Jonathan C JC; Hobbs, Helen H HH; Van Hout, Cristopher C; Gromada, Jesper J; Murphy, Andrew J AJ; Yancopoulos, George D GD; Sleeman, Mark W MW; Gusarova, Viktoria V
Publication Date: 2020-09

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 32646941
Variant Present in the following documents:
  • Main text
  • jlrRA120000888.pdf
View BVdb publication page



Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels.

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

Variant appearance in text: rs77960347
PubMed Link: 32510982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Hyperlipidemias and Coronary Artery Disease Risk.

Circulation. Genomic And Precision Medicine
Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,
Publication Date: 2020-04

Variant appearance in text: rs77960347
PubMed Link: 32154731
Variant Present in the following documents:
  • hcg-13-e002725-s001.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LIPG: 1187A>G; Asn396Ser
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



A single-nucleotide polymorphism influences brain morphology in drug-naïve patients with major depressive disorder.

Neuropsychiatric Disease And Treatment
Katsuki, Asuka A; Kakeda, Shingo S; Watanabe, Keita K; Igata, Ryohei R; Otsuka, Yuka Y; Kishi, Taro T; Nguyen, LeHoa L; Ueda, Issei I; Iwata, Nakao N; Korogi, Yukunori Y; Yoshimura, Reiji R
Publication Date: 2019

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 31692503
Variant Present in the following documents:
  • ndt-15-2425.pdf
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs77960347
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Brain : A Journal Of Neurology
Mishra, Aniket A; Chauhan, Ganesh G; Violleau, Marie-Helene MH; Vojinovic, Dina D; Jian, Xueqiu X; Bis, Joshua C JC; Li, Shuo S; Saba, Yasaman Y; Grenier-Boley, Benjamin B; Yang, Qiong Q; Bartz, Traci M TM; Hofer, Edith E; Soumaré, Aïcha A; Peng, Fen F; Duperron, Marie-Gabrielle MG; Foglio, Mario M; Mosley, Thomas H TH; Schmidt, Reinhold R; Psaty, Bruce M BM; Launer, Lenore J LJ; Boerwinkle, Eric E; Zhu, Yicheng Y; Mazoyer, Bernard B; Lathrop, Mark M; Bellenguez, Celine C; Van Duijn, Cornelia M CM; Ikram, M Arfan MA; Schmidt, Helena H; Longstreth, W T WT; Fornage, Myriam M; Seshadri, Sudha S; Joutel, Anne A; Tzourio, Christophe C; Debette, Stephanie S
Publication Date: 2019-04-01

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 30859180
Variant Present in the following documents:
  • awz024_supplementary_text.pdf
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: LIPG: N396S
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Mendelian Randomization Studies Promise to Shorten the Journey to FDA Approval.

Jacc. Basic To Translational Science
Roberts, Robert R
Publication Date: 2018-10

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 30456340
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol.

Journal Of The American Heart Association
Low-Kam, Cécile C; Rhainds, David D; Lo, Ken Sin KS; Barhdadi, Amina A; Boulé, Marie M; Alem, Sonia S; Pedneault-Gagnon, Valérie V; Rhéaume, Eric E; Dubé, Marie-Pierre MP; Busseuil, David D; Hegele, Robert A RA; Lettre, Guillaume G; Tardif, Jean-Claude JC
Publication Date: 2018-08-21

Variant appearance in text: rs77960347
PubMed Link: 30369316
Variant Present in the following documents:
  • Main text
  • JAH3-7-e009545.pdf
  • JAH3-7-e009545-s001.pdf
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: LIPG: N396S
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page



PK/PD Disconnect Observed with a Reversible Endothelial Lipase Inhibitor.

Acs Medicinal Chemistry Letters
Hangeland, Jon J JJ; Abell, Lynn M LM; Adam, Leonard P LP; Jiang, Ji J; Friends, Todd J TJ; Haque, Lauren E LE; Neels, James J; Onorato, Joelle M JM; Chen, Alice Ye A AYA; Taylor, David S DS; Yin, Xiaohong X; Harrity, Thomas W TW; Basso, Michael D MD; Yang, Richard R; Sleph, Paul G PG; Gordon, David A DA; Huang, Christine S CS; Wexler, Ruth R RR; Finlay, Heather J HJ; Lawrence, R Michael RM
Publication Date: 2018-07-12

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 30034599
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Circulation. Genomic And Precision Medicine
Khetarpal, Sumeet A SA; Babb, Paul L PL; Zhao, Wei W; Hancock-Cerutti, William F WF; Brown, Christopher D CD; Rader, Daniel J DJ; Voight, Benjamin F BF
Publication Date: 2018-07

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 29987113
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatic Overexpression of Endothelial Lipase Lowers High-Density Lipoprotein but Maintains Reverse Cholesterol Transport in Mice: Role of Scavenger Receptor Class B Type I/ATP-Binding Cassette Transporter A1-Dependent Pathways.

Arteriosclerosis, Thrombosis, And Vascular Biology
Takiguchi, Shunichi S; Ayaori, Makoto M; Yakushiji, Emi E; Nishida, Takafumi T; Nakaya, Kazuhiro K; Sasaki, Makoto M; Iizuka, Maki M; Uto-Kondo, Harumi H; Terao, Yoshio Y; Yogo, Makiko M; Komatsu, Tomohiro T; Ogura, Masatsune M; Ikewaki, Katsunori K
Publication Date: 2018-07

Variant appearance in text: LIPG: N396S
PubMed Link: 29748333
Variant Present in the following documents:
  • atv-38-1454.pdf
View BVdb publication page



Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study.

Plos Genetics
Davis, James P JP; Huyghe, Jeroen R JR; Locke, Adam E AE; Jackson, Anne U AU; Sim, Xueling X; Stringham, Heather M HM; Teslovich, Tanya M TM; Welch, Ryan P RP; Fuchsberger, Christian C; Narisu, Narisu N; Chines, Peter S PS; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Boehnke, Michael M; Mohlke, Karen L KL
Publication Date: 2017-10

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 29084231
Variant Present in the following documents:
  • Main text
  • pgen.1007079.pdf
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
Lu, Xiangfeng X; Peloso, Gina M GM; Liu, Dajiang J DJ; Wu, Ying Y; Zhang, He H; Zhou, Wei W; Li, Jun J; Tang, Clara Sze-Man CS; Dorajoo, Rajkumar R; Li, Huaixing H; Long, Jirong J; Guo, Xiuqing X; Xu, Ming M; Spracklen, Cassandra N CN; Chen, Yang Y; Liu, Xuezhen X; Zhang, Yan Y; Khor, Chiea Chuen CC; Liu, Jianjun J; Sun, Liang L; Wang, Laiyuan L; Gao, Yu-Tang YT; Hu, Yao Y; Yu, Kuai K; Wang, Yiqin Y; Cheung, Chloe Yu Yan CYY; Wang, Feijie F; Huang, Jianfeng J; Fan, Qiao Q; Cai, Qiuyin Q; Chen, Shufeng S; Shi, Jinxiu J; Yang, Xueli X; Zhao, Wanting W; Sheu, Wayne H-H WH; Cherny, Stacey Shawn SS; He, Meian M; Feranil, Alan B AB; Adair, Linda S LS; Gordon-Larsen, Penny P; Du, Shufa S; Varma, Rohit R; Chen, Yii-Der Ida YI; Shu, Xiao-Ou XO; Lam, Karen Siu Ling KSL; Wong, Tien Yin TY; Ganesh, Santhi K SK; Mo, Zengnan Z; Hveem, Kristian K; Fritsche, Lars G LG; Nielsen, Jonas Bille JB; Tse, Hung-Fat HF; Huo, Yong Y; Cheng, Ching-Yu CY; Chen, Y Eugene YE; Zheng, Wei W; Tai, E Shyong ES; Gao, Wei W; Lin, Xu X; Huang, Wei W; Abecasis, Goncalo G; , ; Kathiresan, Sekar S; Mohlke, Karen L KL; Wu, Tangchun T; Sham, Pak Chung PC; Gu, Dongfeng D; Willer, Cristen J CJ
Publication Date: 2017-12

Variant appearance in text: LIPG: Asn396Ser; rs77960347
PubMed Link: 29083407
Variant Present in the following documents:
  • Main text
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Progress in Genetic Studies of Tourette's Syndrome.

Brain Sciences
Qi, Yanjie Y; Zheng, Yi Y; Li, Zhanjiang Z; Xiong, Lan L
Publication Date: 2017-10-20

Variant appearance in text: rs77960347
PubMed Link: 29053637
Variant Present in the following documents:
  • Main text
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Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Journal Of Lipid Research
Dron, Jacqueline S JS; Wang, Jian J; Low-Kam, Cécile C; Khetarpal, Sumeet A SA; Robinson, John F JF; McIntyre, Adam D AD; Ban, Matthew R MR; Cao, Henian H; Rhainds, David D; Dubé, Marie-Pierre MP; Rader, Daniel J DJ; Lettre, Guillaume G; Tardif, Jean-Claude JC; Hegele, Robert A RA
Publication Date: 2017-11

Variant appearance in text: LIPG: 1187A>G; N396S
PubMed Link: 28870971
Variant Present in the following documents:
  • 10.1194_M079822_jlr.M079822-1.pdf
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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
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A rare missense variant in RCL1 segregates with depression in extended families.

Molecular Psychiatry
Amin, N N; de Vrij, F M S FMS; Baghdadi, M M; Brouwer, R W W RWW; van Rooij, J G J JGJ; Jovanova, O O; Uitterlinden, A G AG; Hofman, A A; Janssen, H L A HLA; Darwish Murad, S S; Kraaij, R R; Stedehouder, J J; van den Hout, M C G N MCGN; Kros, J M JM; van IJcken, W F J WFJ; Tiemeier, H H; Kushner, S A SA; van Duijn, C M CM
Publication Date: 2018-05

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 28322274
Variant Present in the following documents:
  • mp201749a.pdf
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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: LIPG: 1187A>G; Asn396Ser
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
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Diagnosis and treatment of high density lipoprotein deficiency.

Progress In Cardiovascular Diseases
Schaefer, Ernst J EJ; Anthanont, Pimjai P; Diffenderfer, Margaret R MR; Polisecki, Eliana E; Asztalos, Bela F BF
Publication Date: 2016

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 27565770
Variant Present in the following documents:
  • Main text
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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: LIPG: N396S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
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Analysis with the exome array identifies multiple new independent variants in lipid loci.

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

Variant appearance in text: rs77960347
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
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Surprises From Genetic Analyses of Lipid Risk Factors for Atherosclerosis.

Circulation Research
Musunuru, Kiran K; Kathiresan, Sekar S
Publication Date: 2016-02-19

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 26892959
Variant Present in the following documents:
  • Main text
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Low High-Density Lipoprotein and Risk of Myocardial Infarction.

Clinical Medicine Insights. Cardiology
Ramirez, A A; Hu, P P PP
Publication Date: 2015

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 26692765
Variant Present in the following documents:
  • Main text
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Dysfunctional High-Density Lipoprotein: An Innovative Target for Proteomics and Lipidomics.

Cholesterol
Salazar, Juan J; Olivar, Luis Carlos LC; Ramos, Eduardo E; Chávez-Castillo, Mervin M; Rojas, Joselyn J; Bermúdez, Valmore V
Publication Date: 2015

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 26634153
Variant Present in the following documents:
  • Main text
  • CHOLESTEROL2015-296417.pdf
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HDL/ApoA-1 infusion and ApoA-1 gene therapy in atherosclerosis.

Frontiers In Pharmacology
Chyu, Kuang-Yuh KY; Shah, Prediman K PK
Publication Date: 2015

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 26388776
Variant Present in the following documents:
  • Main text
  • fphar-06-00187.pdf
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Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development
Schmidt, Ellen M EM; Willer, Cristen J CJ
Publication Date: 2015-08

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 26241468
Variant Present in the following documents:
  • Main text
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PLTP activity inversely correlates with CAAD: effects of PON1 enzyme activity and genetic variants on PLTP activity.

Journal Of Lipid Research
Kim, Daniel Seung DS; Burt, Amber A AA; Ranchalis, Jane E JE; Vuletic, Simona S; Vaisar, Tomas T; Li, Wan-Fen WF; Rosenthal, Elisabeth A EA; Dong, Weijiang W; Eintracht, Jason F JF; Motulsky, Arno G AG; Brunzell, John D JD; Albers, John J JJ; Furlong, Clement E CE; Jarvik, Gail P GP
Publication Date: 2015-07

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 26009633
Variant Present in the following documents:
  • Main text
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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: LIPG: N396S
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 7
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LIPG: N396S; rs77960347
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Monogenic causes of elevated HDL cholesterol and implications for development of new therapeutics.

Clinical Lipidology
Larach, Daniel B DB; Cuchel, Marina M; Rader, Daniel J DJ
Publication Date: 2013-12

Variant appearance in text: LIPG: N396S
PubMed Link: 25374625
Variant Present in the following documents:
  • Main text
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Association of cholesteryl ester transfer protein (CETP) gene polymorphism, high density lipoprotein cholesterol and risk of coronary artery disease: a meta-analysis using a Mendelian randomization approach.

Bmc Medical Genetics
Wu, Zhijun Z; Lou, Yuqing Y; Qiu, Xiaochun X; Liu, Yan Y; Lu, Lin L; Chen, Qiujing Q; Jin, Wei W
Publication Date: 2014-10-23

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 25366166
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_118.pdf
View BVdb publication page



HDL-3 is a superior predictor of carotid artery disease in a case-control cohort of 1725 participants.

Journal Of The American Heart Association
Kim, Daniel Seung DS; Burt, Amber A AA; Rosenthal, Elisabeth A EA; Ranchalis, Jane E JE; Eintracht, Jason F JF; Hatsukami, Thomas S TS; Furlong, Clement E CE; Marcovina, Santica S; Albers, John J JJ; Jarvik, Gail P GP
Publication Date: 2014-06-25

Variant appearance in text: LIPG: Asn396Ser
PubMed Link: 24965026
Variant Present in the following documents:
  • Main text
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Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.

Journal Of Lipid Research
Singaraja, Roshni R RR; Tietjen, Ian I; Hovingh, G Kees GK; Franchini, Patrick L PL; Radomski, Chris C; Wong, Kenny K; vanHeek, Margaret M; Stylianou, Ioannis M IM; Lin, Linus L; Wang, Liangsu L; Mitnaul, Lyndon L; Hubbard, Brian B; Winther, Michael M; Mattice, Maryanne M; Legendre, Annick A; Sherrington, Robin R; Kastelein, John J JJ; Akinsanya, Karen K; Plump, Andrew A; Hayden, Michael R MR
Publication Date: 2014-08

Variant appearance in text: LIPG: N396S
PubMed Link: 24891332
Variant Present in the following documents:
  • Main text
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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: LIPG: Asn396Ser; rs77960347
PubMed Link: 24633158
Variant Present in the following documents:
  • Main text
View BVdb publication page