PNPLA3 c.487-28G>A

Variant ID: 22-44328730-G-A

NM_025225.2(PNPLA3):c.487-28G>A

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs4823173
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Metabolic dysfunction associated fatty liver disease: The new nomenclature and its impact.

World Journal Of Gastroenterology
Tang, Si-Ying SY; Tan, Jian Shiun JS; Pang, Xian-Zheng XZ; Lee, Guan-Huei GH
Publication Date: 2023-01-21

Variant appearance in text: rs4823173
PubMed Link: 36688021
Variant Present in the following documents:
  • WJG-29-549.pdf
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Unique genetic variants of lean nonalcoholic fatty liver disease: a retrospective cohort study.

Bmc Endocrine Disorders
Li, Jie J; Wu, Na N; Yang, Yukun Y; Zhai, Xiangyu X; Yuan, Fan F; Zhang, Fengwei F; Yu, Ning N; Li, Dong D; Wang, Ruirui R; Wang, Jianying J; Zhang, Lei L; Shi, Yi Y; He, Guang G; Liu, Baocheng B
Publication Date: 2023-01-10

Variant appearance in text: rs4823173
PubMed Link: 36627697
Variant Present in the following documents:
  • Main text
  • 12902_2022_Article_1234.pdf
View BVdb publication page



Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.

Jama Network Open
Yang, Wenjian W; Karol, Seth E SE; Hoshitsuki, Keito K; Lee, Shawn S; Larsen, Eric C EC; Winick, Naomi N; Carroll, William L WL; Loh, Mignon L ML; Raetz, Elizabeth A EA; Hunger, Stephen P SP; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Devidas, Meenakshi M; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2022-12-01

Variant appearance in text: rs4823173
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
View BVdb publication page



Contribution of PNPLA3 gene polymorphisms to hepatocellular carcinoma susceptibility in the Chinese Han population.

Bmc Medical Genomics
Gong, Dongwei D; Li, Shizong S; Yu, Zhiwei Z; Wang, Kaiqiong K; Qiao, Xin X; Wu, Changxiong C
Publication Date: 2022-11-29

Variant appearance in text: rs4823173
PubMed Link: 36447249
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1394.pdf
View BVdb publication page



Update on Non-Alcoholic Fatty Liver Disease-Associated Single Nucleotide Polymorphisms and Their Involvement in Liver Steatosis, Inflammation, and Fibrosis: A Narrative Review

Iranian Biomedical Journal
Dwi Astarini, Fajar F; Ratnasari, Neneng N; Wasityastuti, Widya W
Publication Date: 2022-07-01

Variant appearance in text: rs4823173
PubMed Link: 36000237
Variant Present in the following documents:
  • Main text
  • ibj-26-252.pdf
View BVdb publication page



Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs4823173
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Development of a prediction protocol for the screening of metabolic associated fatty liver disease in children with overweight or obesity.

Pediatric Obesity
Oses, Maddi M; Cadenas-Sanchez, Cristina C; Medrano, María M; Galbete, Arkaitz A; Miranda-Ferrua, Emiliano E; Ruiz, Jonatan R JR; Sánchez-Valverde, Felix F; Ortega, Francisco B FB; Cabeza, Rafael R; Villanueva, Arantxa A; Idoate, Fernando F; Labayen, Idoia I
Publication Date: 2022-09

Variant appearance in text: rs4823173
PubMed Link: 35394122
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to hepatocellular carcinoma in chromosome 22q13.31, findings of a genome-wide association study.

Jgh Open : An Open Access Journal Of Gastroenterology And Hepatology
Wang, Zhanwei Z; Budhu, Anuradha S AS; Shen, Yi Y; Wong, Linda Lou LL; Hernandez, Brenda Y BY; Tiirikainen, Maarit M; Ma, Xiaomei X; Irwin, Melinda L ML; Lu, Lingeng L; Zhao, Hongyu H; Lim, Joseph K JK; Taddei, Tamar T; Mishra, Lopa L; Pawlish, Karen K; Stroup, Antoinette A; Brown, Robert R; Nguyen, Mindie H MH; Koshiol, Jill J; Hernandez, Maria O MO; Forgues, Marshonna M; Yang, Hwai-I HI; Lee, Mei-Hsuan MH; Huang, Yu-Han YH; Iwasaki, Motoki M; Goto, Atsushi A; Suzuki, Shiori S; Matsuda, Koichi K; Tanikawa, Chizu C; Kamatani, Yoichiro Y; Mann, Dean D; Guarnera, Maria M; Shetty, Kirti K; Thomas, Claire E CE; Yuan, Jian-Min JM; Khor, Chiea Chuen CC; Koh, Woon-Puay WP; Risch, Harvey H; Wang, Xin Wei XW; Yu, Herbert H
Publication Date: 2021-12

Variant appearance in text: rs4823173
PubMed Link: 34950780
Variant Present in the following documents:
  • Main text
  • JGH3-5-1363.pdf
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Association of Genetic Risk Score With NAFLD in An Ethnically Diverse Cohort.

Hepatology Communications
Wang, Jun J; Conti, David V DV; Bogumil, David D; Sheng, Xin X; Noureddin, Mazen M; Wilkens, Lynne R LR; Le Marchand, Loic L; Rosen, Hugo R HR; Haiman, Christopher A CA; Setiawan, Veronica Wendy VW
Publication Date: 2021-10

Variant appearance in text: rs4823173
PubMed Link: 34558842
Variant Present in the following documents:
  • Main text
  • HEP4-5-1689.pdf
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: PNPLA3: 487-28G>A; rs4823173
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs4823173
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic and epigenetic disease modifiers: non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD).

Translational Gastroenterology And Hepatology
Choudhary, Narendra Singh NS; Duseja, Ajay A
Publication Date: 2021

Variant appearance in text: rs4823173
PubMed Link: 33409397
Variant Present in the following documents:
  • Main text
View BVdb publication page



A New Endemic of Concomitant Nonalcoholic Fatty Liver Disease and Chronic Hepatitis B.

Microorganisms
Hanif, Hira H; Khan, Muzammil M MM; Ali, Mukarram J MJ; Shah, Pir A PA; Satiya, Jinendra J; Lau, Daryl T Y DTY; Aslam, Aysha A
Publication Date: 2020-10-04

Variant appearance in text: rs4823173
PubMed Link: 33020450
Variant Present in the following documents:
  • Main text
  • microorganisms-08-01526.pdf
View BVdb publication page



Prevalence, clinical characteristics, risk factors, and indicators for lean Chinese adults with nonalcoholic fatty liver disease.

World Journal Of Gastroenterology
Zeng, Jing J; Yang, Rui-Xu RX; Sun, Chao C; Pan, Qin Q; Zhang, Rui-Nan RN; Chen, Guang-Yu GY; Hu, Ying Y; Fan, Jian-Gao JG
Publication Date: 2020-04-21

Variant appearance in text: rs4823173
PubMed Link: 32351294
Variant Present in the following documents:
  • Main text
  • WJG-26-1792.pdf
View BVdb publication page



PNPLA3-A Potential Therapeutic Target for Personalized Treatment of Chronic Liver Disease.

Frontiers In Medicine
Dong, Xiaocheng Charlie XC
Publication Date: 2019

Variant appearance in text: rs4823173
PubMed Link: 31921875
Variant Present in the following documents:
  • Main text
  • fmed-06-00304.pdf
View BVdb publication page



Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium.

Obesity (Silver Spring, Md.)
Young, Kendra A KA; Palmer, Nicholette D ND; Fingerlin, Tasha E TE; Langefeld, Carl D CD; Norris, Jill M JM; Wang, Nan N; Xiang, Anny H AH; Guo, Xiuqing X; Williams, Adrienne H AH; Chen, Yii-Der I YI; Taylor, Kent D KD; Rotter, Jerome I JI; Raffel, Leslie J LJ; Goodarzi, Mark O MO; Watanabe, Richard M RM; Wagenknecht, Lynne E LE
Publication Date: 2019-08

Variant appearance in text: rs4823173
PubMed Link: 31219225
Variant Present in the following documents:
  • Main text
  • nihms-1528348.pdf
View BVdb publication page



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

Journal Of Clinical And Experimental Hepatology
Kovalic, Alexander J AJ; Banerjee, Pratik P; Tran, Quynh T QT; Singal, Ashwani K AK; Satapathy, Sanjaya K SK
Publication Date: 2018-12

Variant appearance in text: rs4823173
PubMed Link: 30564000
Variant Present in the following documents:
  • Main text
View BVdb publication page



PNPLA3 rs139051 is associated with phospholipid metabolite profile and hepatic inflammation in nonalcoholic fatty liver disease.

World Journal Of Clinical Cases
Luo, Ji-Jun JJ; Cao, Hai-Xia HX; Yang, Rui-Xu RX; Zhang, Rui-Nan RN; Pan, Qin Q
Publication Date: 2018-09-26

Variant appearance in text: rs4823173
PubMed Link: 30283798
Variant Present in the following documents:
  • Main text
  • WJCC-6-355.pdf
View BVdb publication page



PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics
Verma, Anurag A; Lucas, Anastasia A; Verma, Shefali S SS; Zhang, Yu Y; Josyula, Navya N; Khan, Anqa A; Hartzel, Dustin N DN; Lavage, Daniel R DR; Leader, Joseph J; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA
Publication Date: 2018-04-05

Variant appearance in text: rs4823173
PubMed Link: 29606303
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
Edelman, Deborah D; Kalia, Harmit H; Delio, Maria M; Alani, Mustafa M; Krishnamurthy, Karthik K; Abd, Mortadha M; Auton, Adam A; Wang, Tao T; Wolkoff, Allan W AW; Morrow, Bernice E BE
Publication Date: 2015-11

Variant appearance in text: rs4823173
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
  • MGG3-3-558.pdf
View BVdb publication page



Linked PNPLA3 polymorphisms confer susceptibility to nonalcoholic steatohepatitis and decreased viral load in chronic hepatitis B.

World Journal Of Gastroenterology
Pan, Qin Q; Zhang, Rui-Nan RN; Wang, Yu-Qin YQ; Zheng, Rui-Dan RD; Mi, Yu-Qiang YQ; Liu, Wen-Bin WB; Shen, Feng F; Chen, Guang-Yu GY; Lu, Jia-Fa JF; Zhu, Chan-Yan CY; Zhang, Shu-Yi SY; Chen, Yi-Ming YM; Sun, Wan-Lu WL; Fan, Jian-Gao JG
Publication Date: 2015-07-28

Variant appearance in text: rs4823173
PubMed Link: 26229402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis of hepatic lipid content in extreme obesity.

Acta Diabetologica
DiStefano, Johanna K JK; Kingsley, Christopher C; Craig Wood, G G; Chu, Xin X; Argyropoulos, George G; Still, Christopher D CD; Doné, Stefania Cotta SC; Legendre, Christophe C; Tembe, Waibhav W; Gerhard, Glenn S GS
Publication Date: 2015-04

Variant appearance in text: rs4823173
PubMed Link: 25246029
Variant Present in the following documents:
  • Main text
View BVdb publication page