Variant ID: 19-19329924-C-T

NM_004386.2(NCAN):c.274C>T;(p.Pro92Ser)

This variant was identified in 87 publications




Publications:


Noncoding RNAs in Nonalcoholic Fatty Liver Disease: Potential Diagnosis and Prognosis Biomarkers.

Disease Markers
O Khalifa, K Errafii, NS Al-Akl, A Arredouani
Publication Date: 2020

Variant appearance in text: rs2228603
PubMed Link: 33133304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alcohol and hepatocarcinogenesis.

Clinical And Molecular Hepatology
M Taniai
Publication Date: 2020-10

Variant appearance in text: rs2228603
PubMed Link: 33053943
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonalcoholic Fatty Liver Disease (NAFLD) and Hepatic Cytochrome P450 (CYP) Enzymes.

Pharmaceuticals (Basel, Switzerland)
R Jamwal, BJ Barlock
Publication Date: 2020-08-29

Variant appearance in text: rs2228603
PubMed Link: 32872474
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validating a non-invasive, ALT-based non-alcoholic fatty liver phenotype in the million veteran program.

Plos One
M Serper, M Vujkovic, DE Kaplan, RM Carr, KM Lee, Q Shao, DR Miller, PD Reaven, LS Phillips, CJ O'Donnell, JB Meigs, PWF Wilson, R Vickers-Smith, HR Kranzler, AC Justice, JM Gaziano, S Muralidhar, S Pyarajan, SL DuVall, TL Assimes, JS Lee, PS Tsao, DJ Rader, SM Damrauer, JA Lynch, D Saleheen, BF Voight, KM Chang,
Publication Date: 2020

Variant appearance in text: rs2228603
PubMed Link: 32841307
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of Genetic Aspects of Non-alcoholic Fatty Liver and Premature Cardiovascular Events.

Middle East Journal Of Digestive Diseases
S Saki, N Saki, H Poustchi, R Malekzadeh
Publication Date: 2020-04

Variant appearance in text: rs2228603
PubMed Link: 32626560
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the NCAN-TM6SF2-CILP2-PBX4-SUGP1-MAU2 SNPs and gene-gene and gene-environment interactions with serum lipid levels.

Aging
GX Deng, RX Yin, YZ Guan, CX Liu, PF Zheng, BL Wei, JZ Wu, L Miao
Publication Date: 2020-06-22

Variant appearance in text: rs2228603
PubMed Link: 32568739
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regional difference in the susceptibility of non-alcoholic fatty liver disease in China.

Bmj Open Diabetes Research & Care
M Xia, X Sun, L Zheng, Y Bi, Q Li, L Sun, F Di, H Li, D Zhu, Y Gao, Y Bao, Y Wang, L He, B Wu, S Wang, J Gao, X Gao, H Bian
Publication Date: 2020-06

Variant appearance in text: rs2228603
PubMed Link: 32522731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Non-Alcoholic Fatty Liver and Cardiovascular Disease: Implications for Therapy?

Frontiers In Pharmacology
K Chandrasekharan, W Alazawi
Publication Date: 2019

Variant appearance in text: NCAN: P92S; rs2228603
PubMed Link: 31969816
Variant Present in the following documents:
  • Main text
View BVdb publication page



Contribution of Known Genetic Risk Variants to Dyslipidemias and Type 2 Diabetes in Mexico: A Population-Based Nationwide Study.

Genes
A Huerta-Chagoya, H Moreno-Macías, M Sevilla-González, R Rodríguez-Guillén, ML Ordóñez-Sánchez, D Gómez-Velasco, L Muñóz-Hernández, Y Segura-Kato, O Arellano-Campos, I Cruz-Bautista, CA Aguilar-Salinas, T Tusié-Luna
Publication Date: 2020-01-20

Variant appearance in text: rs2228603
PubMed Link: 31968565
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview of the Pathogenesis, Genetic, and Non-Invasive Clinical, Biochemical, and Scoring Methods in the Assessment of NAFLD.

International Journal Of Environmental Research And Public Health
V Kupčová, M Fedelešová, J Bulas, P Kozmonová, L Turecký
Publication Date: 2019-09-24

Variant appearance in text: rs2228603
PubMed Link: 31554274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs2228603
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page



Insulin Resistance Exacerbates Genetic Predisposition to Nonalcoholic Fatty Liver Disease in Individuals Without Diabetes.

Hepatology Communications
L Barata, MF Feitosa, LF Bielak, B Halligan, AS Baldridge, X Guo, LM Yerges-Armstrong, AV Smith, J Yao, ND Palmer, LB VanWagner, JJ Carr, YI Chen, M Allison, MJ Budoff, SK Handelman, SLR Kardia, TH Mosley, K Ryan, TB Harris, LJ Launer, V Gudnason, JI Rotter, M Fornage, LJ Rasmussen-Torvik, IB Borecki, JR O'Connell, PA Peyser, EK Speliotes, MA Province
Publication Date: 2019-07

Variant appearance in text: rs2228603
PubMed Link: 31334442
Variant Present in the following documents:
  • Main text
  • HEP4-3-894-s001.docx
  • HEP4-3-894.pdf
View BVdb publication page



Genetic and metabolic predictors of hepatic fat content in a cohort of Italian children with obesity.

Pediatric Research
A Di Costanzo, L Pacifico, C Chiesa, FM Perla, F Ceci, A Angeloni, L D'Erasmo, M Di Martino, M Arca
Publication Date: 2019-04

Variant appearance in text: rs2228603
PubMed Link: 30710115
Variant Present in the following documents:
  • 41390_2019_303_MOESM4_ESM.docx
View BVdb publication page



Genetic polymorphisms associated with nonalcoholic fatty liver disease in Uyghur population: a case-control study and meta-analysis.

Lipids In Health And Disease
W Cai, DH Weng, P Yan, YT Lin, ZH Dong, Mailamuguli, H Yao
Publication Date: 2019-01-15

Variant appearance in text: rs2228603
PubMed Link: 30646922
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and Epigenetic Culprits in the Pathogenesis of Nonalcoholic Fatty Liver Disease.

Journal Of Clinical And Experimental Hepatology
AJ Kovalic, P Banerjee, QT Tran, AK Singal, SK Satapathy
Publication Date: 2018-12

Variant appearance in text: rs2228603
PubMed Link: 30564000
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic and Epigenetic Modifiers of Alcoholic Liver Disease.

International Journal Of Molecular Sciences
M Meroni, M Longo, R Rametta, P Dongiovanni
Publication Date: 2018-12-03

Variant appearance in text: NCAN: 274C>T; Pro92Ser; rs2228603
PubMed Link: 30513996
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk markers for hepatocellular carcinoma in patients with alcoholic liver disease.

Hepatic Oncology
P Nahon, A Sutton, M Ziol, J Zucman-Rossi, JC Trinchet, N Ganne-Carrié
Publication Date: 2015-01

Variant appearance in text: rs2228603
PubMed Link: 30190987
Variant Present in the following documents:
  • Main text
View BVdb publication page



Parental non-alcoholic fatty liver disease increases risk of non-alcoholic fatty liver disease in offspring.

Liver International : Official Journal Of The International Association For The Study Of The Liver
MT Long, EB Gurary, JM Massaro, J Ma, U Hoffmann, RT Chung, EJ Benjamin, R Loomba
Publication Date: 2019-04

Variant appearance in text: rs2228603
PubMed Link: 30179294
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatic steatosis risk is partly driven by increased de novo lipogenesis following carbohydrate consumption.

Genome Biology
FWB Sanders, A Acharjee, C Walker, L Marney, LD Roberts, F Imamura, B Jenkins, J Case, S Ray, S Virtue, A Vidal-Puig, D Kuh, R Hardy, M Allison, N Forouhi, AJ Murray, N Wareham, M Vacca, A Koulman, JL Griffin
Publication Date: 2018-06-20

Variant appearance in text: rs2228603
PubMed Link: 29925420
Variant Present in the following documents:
  • 13059_2018_1439_MOESM1_ESM.docx
  • aaaaaMain text
View BVdb publication page



NAFLD risk alleles in PNPLA3, TM6SF2, GCKR and LYPLAL1 show divergent metabolic effects.

Human Molecular Genetics
E Sliz, S Sebert, P Würtz, AJ Kangas, P Soininen, T Lehtimäki, M Kähönen, J Viikari, M Männikkö, M Ala-Korpela, OT Raitakari, J Kettunen
Publication Date: 2018-06-15

Variant appearance in text: rs2228603
PubMed Link: 29648650
Variant Present in the following documents:
  • Main text
  • ddy124_supplement.pdf
View BVdb publication page



Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

Nature Genetics
A Mahajan, J Wessel, SM Willems, W Zhao, NR Robertson, AY Chu, W Gan, H Kitajima, D Taliun, NW Rayner, X Guo, Y Lu, M Li, RA Jensen, Y Hu, S Huo, KK Lohman, W Zhang, JP Cook, BP Prins, J Flannick, N Grarup, VV Trubetskoy, J Kravic, YJ Kim, DV Rybin, H Yaghootkar, M Müller-Nurasyid, K Meidtner, R Li-Gao, TV Varga, J Marten, J Li, AV Smith, P An, S Ligthart, S Gustafsson, G Malerba, A Demirkan, JF Tajes, V Steinthorsdottir, M Wuttke, C Lecoeur, M Preuss, LF Bielak, M Graff, HM Highland, AE Justice, DJ Liu, E Marouli, GM Peloso, HR Warren, , , , S Afaq, S Afzal, E Ahlqvist, P Almgren, N Amin, LB Bang, AG Bertoni, C Bombieri, J Bork-Jensen, I Brandslund, JA Brody, NP Burtt, M Canouil, YI Chen, YS Cho, C Christensen, SV Eastwood, KU Eckardt, K Fischer, G Gambaro, V Giedraitis, ML Grove, HG de Haan, S Hackinger, Y Hai, S Han, A Tybjærg-Hansen, MF Hivert, B Isomaa, S Jäger, ME Jørgensen, T Jørgensen, A Käräjämäki, BJ Kim, SS Kim, HA Koistinen, P Kovacs, J Kriebel, F Kronenberg, K Läll, LA Lange, JJ Lee, B Lehne, H Li, KH Lin, A Linneberg, CT Liu, J Liu, M Loh, R Mägi, V Mamakou, R McKean-Cowdin, G Nadkarni, M Neville, SF Nielsen, I Ntalla, PA Peyser, W Rathmann, K Rice, SS Rich, L Rode, O Rolandsson, S Schönherr, E Selvin, KS Small, A Stančáková, P Surendran, KD Taylor, TM Teslovich, B Thorand, G Thorleifsson, A Tin, A Tönjes, A Varbo, DR Witte, AR Wood, P Yajnik, J Yao, L Yengo, R Young, P Amouyel, H Boeing, E Boerwinkle, EP Bottinger, R Chowdhury, FS Collins, G Dedoussis, A Dehghan, P Deloukas, MM Ferrario, J Ferrières, JC Florez, P Frossard, V Gudnason, TB Harris, SR Heckbert, JMM Howson, M Ingelsson, S Kathiresan, F Kee, J Kuusisto, C Langenberg, LJ Launer, CM Lindgren, S Männistö, T Meitinger, O Melander, KL Mohlke, M Moitry, AD Morris, AD Murray, R de Mutsert, M Orho-Melander, KR Owen, M Perola, A Peters, MA Province, A Rasheed, PM Ridker, F Rivadineira, FR Rosendaal, AH Rosengren, V Salomaa, WH Sheu, R Sladek, BH Smith, K Strauch, AG Uitterlinden, R Varma, CJ Willer, M Blüher, AS Butterworth, JC Chambers, DI Chasman, J Danesh, C van Duijn, J Dupuis, OH Franco, PW Franks, P Froguel, H Grallert, L Groop, BG Han, T Hansen, AT Hattersley, C Hayward, E Ingelsson, SLR Kardia, F Karpe, JS Kooner, A Köttgen, K Kuulasmaa, M Laakso, X Lin, L Lind, Y Liu, RJF Loos, J Marchini, A Metspalu, D Mook-Kanamori, BG Nordestgaard, CNA Palmer, JS Pankow, O Pedersen, BM Psaty, R Rauramaa, N Sattar, MB Schulze, N Soranzo, TD Spector, K Stefansson, M Stumvoll, U Thorsteinsdottir, T Tuomi, J Tuomilehto, NJ Wareham, JG Wilson, E Zeggini, RA Scott, I Barroso, TM Frayling, MO Goodarzi, JB Meigs, M Boehnke, D Saleheen, AP Morris, JI Rotter, MI McCarthy
Publication Date: 2018-04

Variant appearance in text: NCAN: Pro92Ser; rs2228603
PubMed Link: 29632382
Variant Present in the following documents:
  • NIHMS938867-supplement-1.pdf
View BVdb publication page



Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.

Plos Genetics
CN Spracklen, J Shi, S Vadlamudi, Y Wu, M Zou, CK Raulerson, JP Davis, M Zeynalzadeh, K Jackson, W Yuan, H Wang, W Shou, Y Wang, J Luo, LA Lange, EM Lange, BM Popkin, P Gordon-Larsen, S Du, W Huang, KL Mohlke
Publication Date: 2018-04

Variant appearance in text: rs2228603
PubMed Link: 29621232
Variant Present in the following documents:
  • pgen.1007275.s021.xlsx
View BVdb publication page



Improved Diet Quality Associates With Reduction in Liver Fat, Particularly in Individuals With High Genetic Risk Scores for Nonalcoholic Fatty Liver Disease.

Gastroenterology
J Ma, R Hennein, C Liu, MT Long, U Hoffmann, PF Jacques, AH Lichtenstein, FB Hu, D Levy
Publication Date: 2018-07

Variant appearance in text: rs2228603
PubMed Link: 29604292
Variant Present in the following documents:
  • Main text
View BVdb publication page



High frequency of the PNPLA3 rs738409 [G] single-nucleotide polymorphism in Hmong individuals as a potential basis for a predisposition to chronic liver disease.

Cancer
CG Tepper, JHT Dang, SL Stewart, DM Fang, KA Wong, SY Liu, RR Davis, DY Dao, JP Gregg, NJ Török, MS Chen
Publication Date: 2018-04-01

Variant appearance in text: rs2228603
PubMed Link: 29578593
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.

Scientific Reports
A Di Costanzo, F Belardinilli, D Bailetti, M Sponziello, L D'Erasmo, L Polimeni, F Baratta, D Pastori, F Ceci, A Montali, G Girelli, B De Masi, A Angeloni, G Giannini, M Del Ben, F Angelico, M Arca
Publication Date: 2018-02-27

Variant appearance in text: NCAN: Pro92Ser; rs2228603
PubMed Link: 29487372
Variant Present in the following documents:
  • 41598_2018_21939_MOESM1_ESM.pdf
View BVdb publication page



Associations of adult genetic risk scores for adiposity with childhood abdominal, liver and pericardial fat assessed by magnetic resonance imaging.

International Journal Of Obesity (2005)
C Monnereau, S Santos, A van der Lugt, VWV Jaddoe, JF Felix
Publication Date: 2018-04

Variant appearance in text: rs2228603
PubMed Link: 29437161
Variant Present in the following documents:
  • NIHMS75015-supplement-Supplemental_Tables.pdf
View BVdb publication page



Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

Plos One
T Kawaguchi, T Shima, M Mizuno, Y Mitsumoto, A Umemura, Y Kanbara, S Tanaka, Y Sumida, K Yasui, M Takahashi, K Matsuo, Y Itoh, K Tokushige, E Hashimoto, K Kiyosawa, M Kawaguchi, H Itoh, H Uto, Y Komorizono, K Shirabe, S Takami, T Takamura, M Kawanaka, R Yamada, F Matsuda, T Okanoue
Publication Date: 2018

Variant appearance in text: rs2228603
PubMed Link: 29385134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk.

American Journal Of Human Genetics
TG Richardson, J Zheng, G Davey Smith, NJ Timpson, TR Gaunt, CL Relton, G Hemani
Publication Date: 2017-10-05

Variant appearance in text: rs2228603
PubMed Link: 28985495
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Alcohol and Hepatocellular Carcinoma: Adding Fuel to the Flame.

Cancers
P Ramadori, FJ Cubero, C Liedtke, C Trautwein, YA Nevzorova
Publication Date: 2017-09-25

Variant appearance in text: rs2228603
PubMed Link: 28946672
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Associations Related to Hepatic Histology in Nonalcoholic Fatty Liver Disease in Hispanic Boys.

The Journal Of Pediatrics
J Wattacheril, JE Lavine, NP Chalasani, X Guo, S Kwon, J Schwimmer, JP Molleston, R Loomba, EM Brunt, YI Chen, MO Goodarzi, KD Taylor, KP Yates, J Tonascia, JI Rotter
Publication Date: 2017-11

Variant appearance in text: rs2228603
PubMed Link: 28918882
Variant Present in the following documents:
  • Main text
  • NIHMS906406-supplement-supplement_1.pdf
View BVdb publication page



Genetic polymorphisms associated with fatty liver disease and fibrosis in HIV positive patients receiving combined antiretroviral therapy (cART).

Plos One
L Dold, C Luda, C Schwarze-Zander, C Boesecke, C Hansel, HD Nischalke, P Lutz, R Mohr, JC Wasmuth, CP Strassburg, J Trebicka, JK Rockstroh, U Spengler
Publication Date: 2017

Variant appearance in text: rs2228603
PubMed Link: 28594920
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic factors associated with risk of metabolic syndrome and hepatocellular carcinoma.

Oncotarget
R Tang, H Liu, Y Yuan, K Xie, P Xu, X Liu, J Wen
Publication Date: 2017-05-23

Variant appearance in text: rs2228603
PubMed Link: 28515345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction.

Scientific Reports
Y Wu, R Jing, Y Dong, Q Kuang, Y Li, Z Huang, W Gan, Y Xue, Y Li, M Li
Publication Date: 2017-03-06

Variant appearance in text: NCAN: P92S; rs2228603
PubMed Link: 28262806
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of NCAN rs2228603 polymorphism in the incidence of nonalcoholic fatty liver disease: a case-control study.

Lipids In Health And Disease
MJ Wu, C Yuan, LL Lu, BQ An, SY Xuan, YN Xin
Publication Date: 2016-11-26

Variant appearance in text: NCAN: Pro92Ser; rs2228603
PubMed Link: 27887608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Analysis of Established Dyslipidemia-Associated Loci in the Diabetes Prevention Program.

Circulation. Cardiovascular Genetics
TV Varga, AH Winters, KA Jablonski, ES Horton, P Khare-Ranade, WC Knowler, SM Marcovina, F Renström, KE Watson, R Goldberg, JC Florez, TI Pollin, PW Franks
Publication Date: 2016-12

Variant appearance in text: rs2228603
PubMed Link: 27784733
Variant Present in the following documents:
  • NIHMS825913-supplement-001457_-_Supplemental_Material.pdf
View BVdb publication page



Omic studies reveal the pathogenic lipid droplet proteins in non-alcoholic fatty liver disease.

Protein & Cell
X Zhang, Y Wang, P Liu
Publication Date: 2017-01

Variant appearance in text: rs2228603
PubMed Link: 27757845
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), GCKR (rs780094), and elevated transaminase levels in overweight/obese Mexican adults.

Molecular Biology Reports
YN Flores, R Velázquez-Cruz, P Ramírez, M Bañuelos, ZF Zhang, HF Yee, SC Chang, S Canizales-Quinteros, M Quiterio, G Cabrera-Alvarez, N Patiño, J Salmerón
Publication Date: 2016-12

Variant appearance in text: rs2228603
PubMed Link: 27752939
Variant Present in the following documents:
  • Main text
View BVdb publication page



Additive Effects of the Risk Alleles of PNPLA3 and TM6SF2 on Non-alcoholic Fatty Liver Disease (NAFLD) in a Chinese Population.

Frontiers In Genetics
X Wang, Z Liu, K Wang, Z Wang, X Sun, L Zhong, G Deng, G Song, B Sun, Z Peng, W Liu
Publication Date: 2016

Variant appearance in text: rs2228603
PubMed Link: 27532011
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonalcoholic Lipid Accumulation and Hepatocyte Malignant Transformation.

Journal Of Clinical And Translational Hepatology
J Gu, M Yao, D Yao, L Wang, X Yang, D Yao
Publication Date: 2016-06-28

Variant appearance in text: rs2228603
PubMed Link: 27350942
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Guide to Non-Alcoholic Fatty Liver Disease in Childhood and Adolescence.

International Journal Of Molecular Sciences
JL Temple, P Cordero, J Li, V Nguyen, JA Oben
Publication Date: 2016-06-15

Variant appearance in text: rs2228603
PubMed Link: 27314342
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

Bmc Genomics
S Ligthart, A Vaez, YH Hsu, , , , R Stolk, AG Uitterlinden, A Hofman, BZ Alizadeh, OH Franco, A Dehghan
Publication Date: 2016-06-10

Variant appearance in text: rs2228603
PubMed Link: 27286809
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Molecular Genetics And Metabolism
RL Hanson, F Leti, D Tsinajinnie, S Kobes, S Puppala, JE Curran, L Almasy, DM Lehman, J Blangero, R Duggirala, JK DiStefano
Publication Date: 2016-06

Variant appearance in text: rs2228603
PubMed Link: 27117576
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene polymorphisms associated with non-alcoholic fatty liver disease and coronary artery disease: a concise review.

Lipids In Health And Disease
XL Li, JQ Sui, LL Lu, NN Zhang, X Xu, QY Dong, YN Xin, SY Xuan
Publication Date: 2016-03-10

Variant appearance in text: rs2228603
PubMed Link: 26965314
Variant Present in the following documents:
  • Main text
View BVdb publication page



TM6SF2 E167K Variant, a Novel Genetic Susceptibility Variant, Contributing to Nonalcoholic Fatty Liver Disease.

Journal Of Clinical And Translational Hepatology
LZ Chen, HH Xia, YN Xin, ZH Lin, SY Xuan
Publication Date: 2015-12-28

Variant appearance in text: rs2228603
PubMed Link: 26807382
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is Hepatocellular Cancer the Same Disease in Alcoholic and Nonalcoholic Fatty Liver Diseases?

Gastroenterology
N Goossens, Y Hoshida
Publication Date: 2016-06

Variant appearance in text: rs2228603
PubMed Link: 26784140
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Molecular Genetics & Genomic Medicine
D Edelman, H Kalia, M Delio, M Alani, K Krishnamurthy, M Abd, A Auton, T Wang, AW Wolkoff, BE Morrow
Publication Date: 2015-11

Variant appearance in text: NCAN: 274C>T; rs2228603
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
  • MGG3-3-558-s001.docx
View BVdb publication page



Insights from Genome-Wide Association Analyses of Nonalcoholic Fatty Liver Disease.

Seminars In Liver Disease
B Kahali, B Halligan, EK Speliotes
Publication Date: 2015-11

Variant appearance in text: rs2228603
PubMed Link: 26676813
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic background in nonalcoholic fatty liver disease: A comprehensive review.

World Journal Of Gastroenterology
FS Macaluso, M Maida, S Petta
Publication Date: 2015-10-21

Variant appearance in text: rs2228603
PubMed Link: 26494964
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of PNPLA3 rs738409 Genetic Polymorphism and Weight Gain ≥10 kg after Age 20 on Non-Alcoholic Fatty Liver Disease in Non-Obese Japanese Individuals.

Plos One
K Nishioji, N Mochizuki, M Kobayashi, M Kamaguchi, Y Sumida, T Nishimura, K Yamaguchi, H Kadotani, Y Itoh
Publication Date: 2015

Variant appearance in text: rs2228603
PubMed Link: 26485523
Variant Present in the following documents:
  • Main text
  • pone.0140427.s001.docx
View BVdb publication page



Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease.

Bmj Open Gastroenterology
KL Wood, MH Miller, JF Dillon
Publication Date: 2015

Variant appearance in text: rs2228603
PubMed Link: 26462272
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of low-frequency and rare variants on lipid levels.

Nature Genetics
I Surakka, M Horikoshi, R Mägi, AP Sarin, A Mahajan, V Lagou, L Marullo, T Ferreira, B Miraglio, S Timonen, J Kettunen, M Pirinen, J Karjalainen, G Thorleifsson, S Hägg, JJ Hottenga, A Isaacs, C Ladenvall, M Beekman, T Esko, JS Ried, CP Nelson, C Willenborg, S Gustafsson, HJ Westra, M Blades, AJ de Craen, EJ de Geus, J Deelen, H Grallert, A Hamsten, AS Havulinna, C Hengstenberg, JJ Houwing-Duistermaat, E Hyppönen, LC Karssen, T Lehtimäki, V Lyssenko, PK Magnusson, E Mihailov, M Müller-Nurasyid, JP Mpindi, NL Pedersen, BW Penninx, M Perola, TH Pers, A Peters, J Rung, JH Smit, V Steinthorsdottir, MD Tobin, N Tsernikova, EM van Leeuwen, JS Viikari, SM Willems, G Willemsen, H Schunkert, J Erdmann, NJ Samani, J Kaprio, L Lind, C Gieger, A Metspalu, PE Slagboom, L Groop, CM van Duijn, JG Eriksson, A Jula, V Salomaa, DI Boomsma, C Power, OT Raitakari, E Ingelsson, MR Järvelin, U Thorsteinsdottir, L Franke, E Ikonen, O Kallioniemi, V Pietiäinen, CM Lindgren, K Stefansson, A Palotie, MI McCarthy, AP Morris, I Prokopenko, S Ripatti,
Publication Date: 2015-06

Variant appearance in text: NCAN: Pro92Ser; rs2228603
PubMed Link: 25961943
Variant Present in the following documents:
  • Main text
  • NIHMS67068-supplement-Supplementary_figures.docx
  • NIHMS67068-supplement-Supplementary_tables_1-7__9-14.docx
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The TM6SF2 variants, novel genetic predictors for nonalcoholic steatohepatitis.

Gastroenterology
YS Roh, R Loomba, E Seki
Publication Date: 2015-01

Variant appearance in text: rs2228603
PubMed Link: 25451657
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects: A pilot study.

World Journal Of Hepatology
VV Kanth, M Sasikala, PN Rao, U Steffie Avanthi, KR Rao, D Nageshwar Reddy
Publication Date: 2014-06-27

Variant appearance in text: rs2228603
PubMed Link: 25018854
Variant Present in the following documents:
  • Main text
View BVdb publication page



TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease.

Nature Communications
YL Liu, HL Reeves, AD Burt, D Tiniakos, S McPherson, JB Leathart, ME Allison, GJ Alexander, AC Piguet, R Anty, P Donaldson, GP Aithal, S Francque, L Van Gaal, K Clement, V Ratziu, JF Dufour, CP Day, AK Daly, QM Anstee
Publication Date: 2014-06-30

Variant appearance in text: NCAN: 274C>T; Pro92Ser; rs2228603
PubMed Link: 24978903
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pediatric fatty liver disease: role of ethnicity and genetics.

World Journal Of Gastroenterology
P Marzuillo, E Miraglia del Giudice, N Santoro
Publication Date: 2014-06-21

Variant appearance in text: rs2228603
PubMed Link: 24966605
Variant Present in the following documents:
  • Main text
View BVdb publication page



TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content.

Proceedings Of The National Academy Of Sciences Of The United States Of America
H Mahdessian, A Taxiarchis, S Popov, A Silveira, A Franco-Cereceda, A Hamsten, P Eriksson, F van't Hooft
Publication Date: 2014-06-17

Variant appearance in text: rs2228603
PubMed Link: 24927523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gender and racial differences in nonalcoholic fatty liver disease.

World Journal Of Hepatology
JJ Pan, MB Fallon
Publication Date: 2014-05-27

Variant appearance in text: rs2228603
PubMed Link: 24868321
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia.

Metabolism: Clinical And Experimental
CA Aguilar-Salinas, T Tusie-Luna, P Pajukanta
Publication Date: 2014-07

Variant appearance in text: rs2228603
PubMed Link: 24768220
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk factors for fatty liver in the Multicenter AIDS Cohort Study.

The American Journal Of Gastroenterology
JC Price, EC Seaberg, R Latanich, MJ Budoff, LA Kingsley, FJ Palella, MD Witt, WS Post, CL Thio
Publication Date: 2014-05

Variant appearance in text: rs2228603
PubMed Link: 24642579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Nature Genetics
OL Holmen, H Zhang, Y Fan, DH Hovelson, EM Schmidt, W Zhou, Y Guo, J Zhang, A Langhammer, ML Løchen, SK Ganesh, L Vatten, F Skorpen, H Dalen, J Zhang, S Pennathur, J Chen, C Platou, EB Mathiesen, T Wilsgaard, I Njølstad, M Boehnke, YE Chen, GR Abecasis, K Hveem, CJ Willer
Publication Date: 2014-04

Variant appearance in text: NCAN: Pro92Ser; rs2228603
PubMed Link: 24633158
Variant Present in the following documents:
  • Main text
  • NIHMS570373-supplement-1.pdf
View BVdb publication page



Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.

Nature Genetics
J Kozlitina, E Smagris, S Stender, BG Nordestgaard, HH Zhou, A Tybjærg-Hansen, TF Vogt, HH Hobbs, JC Cohen
Publication Date: 2014-04

Variant appearance in text: NCAN: P92S; rs2228603
PubMed Link: 24531328
Variant Present in the following documents:
  • Main text
  • NIHMS560851-supplement-1.pdf
View BVdb publication page



Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

Plos Genetics
SK Service, TM Teslovich, C Fuchsberger, V Ramensky, P Yajnik, DC Koboldt, DE Larson, Q Zhang, L Lin, R Welch, L Ding, MD McLellan, M O'Laughlin, C Fronick, LL Fulton, V Magrini, A Swift, P Elliott, MR Jarvelin, M Kaakinen, MI McCarthy, L Peltonen, A Pouta, LL Bonnycastle, FS Collins, N Narisu, HM Stringham, J Tuomilehto, S Ripatti, RS Fulton, C Sabatti, RK Wilson, M Boehnke, NB Freimer
Publication Date: 2014-01

Variant appearance in text: rs2228603
PubMed Link: 24497850
Variant Present in the following documents:
  • Main text
  • pgen.1004147.s004.pdf
View BVdb publication page



PNPLA3 GG genotype and carotid atherosclerosis in patients with non-alcoholic fatty liver disease.

Plos One
S Petta, L Valenti, G Marchesini, V Di Marco, A Licata, C Cammà, MR Barcellona, D Cabibi, B Donati, A Fracanzani, S Grimaudo, G Parrinello, RM Pipitone, D Torres, S Fargion, G Licata, A Craxì
Publication Date: 2013

Variant appearance in text: rs2228603
PubMed Link: 24069270
Variant Present in the following documents:
  • Main text
  • pone.0074089.s001.doc
View BVdb publication page



Genetic and clinical markers of elevated liver fat content in overweight and obese Hispanic children.

Obesity (Silver Spring, Md.)
RW Walker, F Sinatra, J Hartiala, M Weigensberg, D Spruijt-Metz, TL Alderete, MI Goran, H Allayee
Publication Date: 2013-12

Variant appearance in text: rs2228603
PubMed Link: 23804528
Variant Present in the following documents:
  • Main text
  • NIHMS494391-supplement-01.pdf
View BVdb publication page



Genetic variation at NCAN locus is associated with inflammation and fibrosis in non-alcoholic fatty liver disease in morbid obesity.

Human Heredity
A Gorden, R Yang, LM Yerges-Armstrong, KA Ryan, E Speliotes, IB Borecki, TB Harris, X Chu, GC Wood, CD Still, AR Shuldiner, GS Gerhard,
Publication Date: 2013

Variant appearance in text: rs2228603
PubMed Link: 23594525
Variant Present in the following documents:
  • Main text
  • NIHMS497027-supplement-01.pdf
View BVdb publication page



Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent.

Hepatology (Baltimore, Md.)
ND Palmer, SK Musani, LM Yerges-Armstrong, MF Feitosa, LF Bielak, R Hernaez, B Kahali, JJ Carr, TB Harris, MA Jhun, SL Kardia, CD Langefeld, TH Mosley, JM Norris, AV Smith, HA Taylor, LE Wagenknecht, J Liu, IB Borecki, PA Peyser, EK Speliotes
Publication Date: 2013-09

Variant appearance in text: rs2228603
PubMed Link: 23564467
Variant Present in the following documents:
  • Main text
  • NIHMS464944-supplement-Appendix_Table_S1-S6.docx
View BVdb publication page



Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

Journal Of Medical Genetics
D Weissglas-Volkov, CA Aguilar-Salinas, E Nikkola, KA Deere, I Cruz-Bautista, O Arellano-Campos, LL Muñoz-Hernandez, L Gomez-Munguia, ML Ordoñez-Sánchez, PM Reddy, AJ Lusis, N Matikainen, MR Taskinen, L Riba, RM Cantor, JS Sinsheimer, T Tusie-Luna, P Pajukanta
Publication Date: 2013-05

Variant appearance in text: rs2228603
PubMed Link: 23505323
Variant Present in the following documents:
  • Main text
  • NIHMS454100-supplement-Supplementary_material.doc
View BVdb publication page



Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
R Hernaez, J McLean, M Lazo, FL Brancati, JN Hirschhorn, IB Borecki, TB Harris, , T Nguyen, IR Kamel, S Bonekamp, MS Eberhardt, JM Clark, WH Kao, EK Speliotes
Publication Date: 2013-09

Variant appearance in text: rs2228603
PubMed Link: 23416328
Variant Present in the following documents:
  • Main text
  • NIHMS630367-supplement-01.pdf
View BVdb publication page



Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.

Current Pharmaceutical Design
P Dongiovanni, QM Anstee, L Valenti
Publication Date: 2013

Variant appearance in text: rs2228603
PubMed Link: 23394097
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
FW Asselbergs, Y Guo, EP van Iperen, S Sivapalaratnam, V Tragante, MB Lanktree, LA Lange, B Almoguera, YE Appelman, J Barnard, J Baumert, AL Beitelshees, TR Bhangale, YD Chen, TR Gaunt, Y Gong, JC Hopewell, T Johnson, ME Kleber, TY Langaee, M Li, YR Li, K Liu, CW McDonough, MF Meijs, RP Middelberg, K Musunuru, CP Nelson, JR O'Connell, S Padmanabhan, JS Pankow, N Pankratz, S Rafelt, R Rajagopalan, SP Romaine, NJ Schork, J Shaffer, H Shen, EN Smith, SE Tischfield, PJ van der Most, JV van Vliet-Ostaptchouk, N Verweij, KA Volcik, L Zhang, KR Bailey, KM Bailey, F Bauer, JM Boer, PS Braund, A Burt, PR Burton, SG Buxbaum, W Chen, RM Cooper-Dehoff, LA Cupples, JS deJong, C Delles, D Duggan, M Fornage, CE Furlong, N Glazer, JG Gums, C Hastie, MV Holmes, T Illig, SA Kirkland, M Kivimaki, R Klein, BE Klein, C Kooperberg, K Kottke-Marchant, M Kumari, AZ LaCroix, L Mallela, G Murugesan, J Ordovas, WH Ouwehand, WS Post, R Saxena, H Scharnagl, PJ Schreiner, T Shah, DC Shields, D Shimbo, SR Srinivasan, RP Stolk, DI Swerdlow, HA Taylor, EJ Topol, E Toskala, JL van Pelt, J van Setten, S Yusuf, JC Whittaker, AH Zwinderman, , SS Anand, AJ Balmforth, GS Berenson, CR Bezzina, BO Boehm, E Boerwinkle, JP Casas, MJ Caulfield, R Clarke, JM Connell, KJ Cruickshanks, KW Davidson, IN Day, PI de Bakker, PA Doevendans, AF Dominiczak, AS Hall, CA Hartman, C Hengstenberg, HL Hillege, MH Hofker, SE Humphries, GP Jarvik, JA Johnson, BM Kaess, S Kathiresan, W Koenig, DA Lawlor, W März, O Melander, BD Mitchell, GW Montgomery, PB Munroe, SS Murray, SJ Newhouse, NC Onland-Moret, N Poulter, B Psaty, S Redline, SS Rich, JI Rotter, H Schunkert, P Sever, AR Shuldiner, RL Silverstein, A Stanton, B Thorand, MD Trip, MY Tsai, P van der Harst, E van der Schoot, YT van der Schouw, WM Verschuren, H Watkins, AA Wilde, BH Wolffenbuttel, JB Whitfield, GK Hovingh, CM Ballantyne, C Wijmenga, MP Reilly, NG Martin, JG Wilson, DJ Rader, NJ Samani, AP Reiner, RA Hegele, JJ Kastelein, AD Hingorani, PJ Talmud, H Hakonarson, CC Elbers, BJ Keating, F Drenos
Publication Date: 2012-11-02

Variant appearance in text: rs2228603
PubMed Link: 23063622
Variant Present in the following documents:
  • mmc10.xls
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
S Huhn, M Bevier, A Rudolph, B Pardini, A Naccarati, R Hein, M Hoffmeister, L Vodickova, J Novotny, H Brenner, J Chang-Claude, K Hemminki, P Vodicka, A Försti
Publication Date: 2012-10-05

Variant appearance in text: rs2228603
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.

Plos One
T Kawaguchi, Y Sumida, A Umemura, K Matsuo, M Takahashi, T Takamura, K Yasui, T Saibara, E Hashimoto, M Kawanaka, S Watanabe, S Kawata, Y Imai, M Kokubo, T Shima, H Park, H Tanaka, K Tajima, R Yamada, F Matsuda, T Okanoue,
Publication Date: 2012

Variant appearance in text: rs2228603
PubMed Link: 22719876
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic-related and carbohydrate-related factors affecting liver fat accumulation.

Current Opinion In Clinical Nutrition And Metabolic Care
MI Goran, R Walker, H Allayee
Publication Date: 2012-07

Variant appearance in text: rs2228603
PubMed Link: 22617559
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World Journal Of Cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
Publication Date: 2011-07-26

Variant appearance in text: rs2228603
PubMed Link: 21860704
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficient replication of over 180 genetic associations with self-reported medical data.

Plos One
JY Tung, CB Do, DA Hinds, AK Kiefer, JM Macpherson, AB Chowdry, U Francke, BT Naughton, JL Mountain, A Wojcicki, N Eriksson
Publication Date: 2011

Variant appearance in text: rs2228603
PubMed Link: 21858135
Variant Present in the following documents:
  • pone.0023473.s005.docx
View BVdb publication page



Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
A Windemuth, J de Leon, JW Goethe, HI Schwartz, S Woolley, M Susce, M Kocherla, K Bogaard, TR Holford, RL Seip, G Ruaño
Publication Date: 2012-03-30

Variant appearance in text: rs2228603
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human fatty liver disease: old questions and new insights.

Science (New York, N.Y.)
JC Cohen, JD Horton, HH Hobbs
Publication Date: 2011-06-24

Variant appearance in text: NCAN: P92S; rs2228603
PubMed Link: 21700865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic architecture of circulating lipid levels.

European Journal Of Human Genetics : Ejhg
A Demirkan, N Amin, A Isaacs, MR Jarvelin, JB Whitfield, HE Wichmann, KO Kyvik, I Rudan, C Gieger, AA Hicks, Å Johansson, JJ Hottenga, JJ Smith, SH Wild, NL Pedersen, G Willemsen, M Mangino, C Hayward, AG Uitterlinden, A Hofman, J Witteman, GW Montgomery, KH Pietiläinen, T Rantanen, J Kaprio, A Döring, PP Pramstaller, U Gyllensten, EJ de Geus, BW Penninx, JF Wilson, F Rivadeneria, PK Magnusson, DI Boomsma, T Spector, H Campbell, B Hoehne, NG Martin, BA Oostra, M McCarthy, L Peltonen-Palotie, Y Aulchenko, PM Visscher, S Ripatti, AC Janssens, CM van Duijn,
Publication Date: 2011-07

Variant appearance in text: rs2228603
PubMed Link: 21448234
Variant Present in the following documents:
  • ejhg201121x5.doc
View BVdb publication page



Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.

Plos Genetics
EK Speliotes, LM Yerges-Armstrong, J Wu, R Hernaez, LJ Kim, CD Palmer, V Gudnason, G Eiriksdottir, ME Garcia, LJ Launer, MA Nalls, JM Clark, BD Mitchell, AR Shuldiner, JL Butler, M Tomas, U Hoffmann, SJ Hwang, JM Massaro, CJ O'Donnell, DV Sahani, V Salomaa, EE Schadt, SM Schwartz, DS Siscovick, , , , BF Voight, JJ Carr, MF Feitosa, TB Harris, CS Fox, AV Smith, WH Kao, JN Hirschhorn, IB Borecki,
Publication Date: 2011-03

Variant appearance in text: rs2228603
PubMed Link: 21423719
Variant Present in the following documents:
  • pgen.1001324.s006.doc
  • pgen.1001324.s009.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252575.6 c.274C>T p.Pro92Ser missense_variant 3/15 -
NM_004386.3 c.274C>T p.Pro92Ser missense_variant 3/15 -