PNPLA3 c.979+542T>G

Variant ID: 22-44333694-T-G

NM_025225.2(PNPLA3):c.979+542T>G

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Genetic Polymorphisms and Diversity in Nonalcoholic Fatty Liver Disease (NAFLD): A Mini Review.

Biomedicines
Sulaiman, Siti Aishah SA; Dorairaj, Vicneswarry V; Adrus, Muhammad Nafiz Haidi MNH
Publication Date: 2022-12-30

Variant appearance in text: rs2896019
PubMed Link: 36672614
Variant Present in the following documents:
  • biomedicines-11-00106.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: rs2896019
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: rs2896019
PubMed Link: 36447249
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1394.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: rs2896019
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



NAFLD polygenic risk score and risk of hepatocellular carcinoma in an East Asian population.

Hepatology Communications
Thomas, Claire E CE; Diergaarde, Brenda B; Kuipers, Allison L AL; Adibi, Jennifer J JJ; Luu, Hung N HN; Chang, Xuling X; Dorajoo, Rajkumar R; Heng, Chew-Kiat CK; Khor, Chiea-Chuen CC; Wang, Renwei R; Jin, Aizhen A; Koh, Woon-Puay WP; Yuan, Jian-Min JM
Publication Date: 2022-09

Variant appearance in text: rs2896019
PubMed Link: 35503778
Variant Present in the following documents:
  • Main text
  • HEP4-6-2310.pdf
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: rs2896019
PubMed Link: 34950780
Variant Present in the following documents:
  • Main text
  • JGH3-5-1363.pdf
View BVdb publication page



The Risk of Cirrhosis and Its Complications Based on PNPLA3 rs738409 G Allele Frequency.

Digestive Diseases (Basel, Switzerland)
Shao, Xue X; Uojima, Haruki H; Arai, Taeang T; Ogawa, Yuji Y; Setsu, Toru T; Atsukawa, Masanori M; Furuichi, Yoshihiro Y; Arase, Yoshitaka Y; Horio, Kazue K; Hidaka, Hisashi H; Nakazawa, Takahide T; Kako, Makoto M; Kagawa, Tatehiro T; Iwakiri, Katsuhiko K; Nakajima, Atsushi A; Terai, Shuji S; Tanaka, Yasuhito Y; Koizumi, Wasaburo W
Publication Date: 2022

Variant appearance in text: rs2896019
PubMed Link: 34808618
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2896019
PubMed Link: 34558842
Variant Present in the following documents:
  • Main text
  • HEP4-5-1689.pdf
View BVdb publication page



Association between PNPLA3 rs738409 polymorphism and nonalcoholic fatty liver disease: a systematic review and meta-analysis.

Bmc Endocrine Disorders
Salari, Nader N; Darvishi, Niloufar N; Mansouri, Kamran K; Ghasemi, Hooman H; Hosseinian-Far, Melika M; Darvishi, Fateme F; Mohammadi, Masoud M
Publication Date: 2021-06-19

Variant appearance in text: rs2896019
PubMed Link: 34147109
Variant Present in the following documents:
  • Main text
  • 12902_2021_Article_789.pdf
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: rs2896019
PubMed Link: 33409397
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of omics in the pathophysiology, diagnosis and treatment of non-alcoholic fatty liver disease.

Metabolism: Clinical And Experimental
Perakakis, Nikolaos N; Stefanakis, Konstantinos K; Mantzoros, Christos S CS
Publication Date: 2020-10

Variant appearance in text: rs2896019
PubMed Link: 32712221
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A genome-wide association study on liver enzymes in Korean population.

Plos One
Seo, Ji Yeon JY; Lee, Jong-Eun JE; Chung, Goh Eun GE; Shin, Eunsoon E; Kwak, Min-Sun MS; Yang, Jong In JI; Yim, Jeong Yoon JY
Publication Date: 2020

Variant appearance in text: rs2896019
PubMed Link: 32084209
Variant Present in the following documents:
  • Main text
  • pone.0229374.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: rs2896019
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: rs2896019
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: rs2896019
PubMed Link: 30564000
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Plos One
Kawaguchi, Takahisa T; Shima, Toshihide T; Mizuno, Masayuki M; Mitsumoto, Yasuhide Y; Umemura, Atsushi A; Kanbara, Yoshihiro Y; Tanaka, Saiyu S; Sumida, Yoshio Y; Yasui, Kohichiro K; Takahashi, Meiko M; Matsuo, Keitaro K; Itoh, Yoshito Y; Tokushige, Katsutoshi K; Hashimoto, Etsuko E; Kiyosawa, Kendo K; Kawaguchi, Masanori M; Itoh, Hiroyuki H; Uto, Hirofumi H; Komorizono, Yasuji Y; Shirabe, Ken K; Takami, Shiro S; Takamura, Toshinari T; Kawanaka, Miwa M; Yamada, Ryo R; Matsuda, Fumihiko F; Okanoue, Takeshi T
Publication Date: 2018

Variant appearance in text: rs2896019
PubMed Link: 29385134
Variant Present in the following documents:
  • Main text
  • pone.0185490.pdf
View BVdb publication page



Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population.

Experimental And Molecular Pathology
Larrieta-Carrasco, Elena E; Flores, Yvonne N YN; Macías-Kauffer, Luis R LR; Ramírez-Palacios, Paula P; Quiterio, Manuel M; Ramírez-Salazar, Eric G EG; León-Mimila, Paola P; Rivera-Paredez, Berenice B; Cabrera-Álvarez, Guillermo G; Canizales-Quinteros, Samuel S; Zhang, Zuo-Feng ZF; López-Pérez, Tania V TV; Salmerón, Jorge J; Velázquez-Cruz, Rafael R
Publication Date: 2018-02

Variant appearance in text: rs2896019
PubMed Link: 29307798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of patatin-like phospholipase domain-containing protein 3 gene polymorphisms with susceptibility of nonalcoholic fatty liver disease in a Han Chinese population.

Medicine
Song, Guohe G; Xiao, Chao C; Wang, Kai K; Wang, Yupeng Y; Chen, Jian J; Yu, Yang Y; Wang, Zhaowen Z; Deng, Guilong G; Sun, Xing X; Zhong, Lin L; Zhou, Chongzhi C; Qi, Xiaosheng X; Wang, Shuyun S; Peng, Zhihai Z; Wang, Xiaoliang X
Publication Date: 2016-08

Variant appearance in text: rs2896019
PubMed Link: 27537584
Variant Present in the following documents:
  • Main text
  • medi-95-e4569.pdf
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: PNPLA3: 979+542T>G; rs2896019
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
  • MGG3-3-558.pdf
View BVdb publication page



Role of genetic polymorphisms in hepatitis C virus chronic infection.

World Journal Of Clinical Cases
Coppola, Nicola N; Pisaturo, Mariantonietta M; Sagnelli, Caterina C; Onorato, Lorenzo L; Sagnelli, Evangelista E
Publication Date: 2015-09-16

Variant appearance in text: rs2896019
PubMed Link: 26380828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Liver enzymes, metabolomics and genome-wide association studies: from systems biology to the personalized medicine.

World Journal Of Gastroenterology
Sookoian, Silvia S; Pirola, Carlos J CJ
Publication Date: 2015-01-21

Variant appearance in text: rs2896019
PubMed Link: 25624707
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: rs2896019
PubMed Link: 25246029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-alcoholic fatty liver disease and type 2 diabetes mellitus: the liver disease of our age?

World Journal Of Gastroenterology
Firneisz, Gábor G
Publication Date: 2014-07-21

Variant appearance in text: rs2896019
PubMed Link: 25083080
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical differences between alcoholic liver disease and nonalcoholic fatty liver disease.

World Journal Of Gastroenterology
Toshikuni, Nobuyuki N; Tsutsumi, Mikihiro M; Arisawa, Tomiyasu T
Publication Date: 2014-07-14

Variant appearance in text: rs2896019
PubMed Link: 25024597
Variant Present in the following documents:
  • Main text
View BVdb publication page



The effect of PNPLA3 on fibrosis progression and development of hepatocellular carcinoma: a meta-analysis.

The American Journal Of Gastroenterology
Singal, Amit G AG; Manjunath, Hema H; Yopp, Adam C AC; Beg, Muhammad S MS; Marrero, Jorge A JA; Gopal, Purva P; Waljee, Akbar K AK
Publication Date: 2014-03

Variant appearance in text: rs2896019
PubMed Link: 24445574
Variant Present in the following documents:
  • Main text
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
Kawaguchi, Takahisa T; Sumida, Yoshio Y; Umemura, Atsushi A; Matsuo, Keitaro K; Takahashi, Meiko M; Takamura, Toshinari T; Yasui, Kohichiroh K; Saibara, Toshiji T; Hashimoto, Etsuko E; Kawanaka, Miwa M; Watanabe, Sumio S; Kawata, Sumio S; Imai, Yasuharu Y; Kokubo, Miki M; Shima, Toshihide T; Park, Hyohun H; Tanaka, Hideo H; Tajima, Kazuo K; Yamada, Ryo R; Matsuda, Fumihiko F; Okanoue, Takeshi T; ,
Publication Date: 2012

Variant appearance in text: rs2896019
PubMed Link: 22719876
Variant Present in the following documents:
  • Main text
  • pone.0038322.pdf
View BVdb publication page



The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infection.

Digestive Diseases And Sciences
Clark, Paul J PJ; Thompson, Alexander J AJ; Zhu, Qianqian Q; Vock, David M DM; Zhu, Mingfu M; Patel, Keyur K; Harrison, Stephen A SA; Naggie, Susanna S; Ge, Dongliang D; Tillmann, Hans L HL; Urban, Thomas J TJ; Shianna, Kevin K; Fellay, Jacques J; Goodman, Zachary Z; Noviello, Stephanie S; Pedicone, Lisa D LD; Afdhal, Nezam N; Sulkowski, Mark M; Albrecht, Janice K JK; Goldstein, David B DB; McHutchison, John G JG; Muir, Andrew J AJ
Publication Date: 2012-08

Variant appearance in text: rs2896019
PubMed Link: 22543885
Variant Present in the following documents:
  • Main text
View BVdb publication page