PNPLA3 c.486+1227G>C

Variant ID: 22-44325996-G-C

NM_025225.2(PNPLA3):c.486+1227G>C

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs12483959
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: rs12483959
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Impact of Evolutionary Changes in Nonalcoholic Fatty Liver Disease on Lung Function Decline.

Gut And Liver
Lee, Hyun Woo HW; Chung, Goh Eun GE; Koo, Bo Kyung BK; Sim, Hyungtai H; Choi, Murim M; Lee, Dong Hyeon DH; Choi, Seung Ho SH; Kwak, Soo Heon SH; Kim, Deog Kyeom DK; Kim, Won W; ,
Publication Date: 2022-05-25

Variant appearance in text: rs12483959
PubMed Link: 35611668
Variant Present in the following documents:
  • Main text
  • gnl-17-1-139.pdf
View BVdb publication page



Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

Communications Biology
Nakatochi, Masahiro M; Kanai, Masahiro M; Nakayama, Akiyoshi A; Hishida, Asahi A; Kawamura, Yusuke Y; Ichihara, Sahoko S; Akiyama, Masato M; Ikezaki, Hiroaki H; Furusyo, Norihiro N; Shimizu, Seiko S; Yamamoto, Ken K; Hirata, Makoto M; Okada, Rieko R; Kawai, Sayo S; Kawaguchi, Makoto M; Nishida, Yuichiro Y; Shimanoe, Chisato C; Ibusuki, Rie R; Takezaki, Toshiro T; Nakajima, Mayuko M; Takao, Mikiya M; Ozaki, Etsuko E; Matsui, Daisuke D; Nishiyama, Takeshi T; Suzuki, Sadao S; Takashima, Naoyuki N; Kita, Yoshikuni Y; Endoh, Kaori K; Kuriki, Kiyonori K; Uemura, Hirokazu H; Arisawa, Kokichi K; Oze, Isao I; Matsuo, Keitaro K; Nakamura, Yohko Y; Mikami, Haruo H; Tamura, Takashi T; Nakashima, Hiroshi H; Nakamura, Takahiro T; Kato, Norihiro N; Matsuda, Koichi K; Murakami, Yoshinori Y; Matsubara, Tatsuaki T; Naito, Mariko M; Kubo, Michiaki M; Kamatani, Yoichiro Y; Shinomiya, Nariyoshi N; Yokota, Mitsuhiro M; Wakai, Kenji K; Okada, Yukinori Y; Matsuo, Hirotaka H
Publication Date: 2019

Variant appearance in text: rs12483959
PubMed Link: 30993211
Variant Present in the following documents:
  • 42003_2019_339_MOESM1_ESM.pdf
View BVdb publication page



The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

Scientific Reports
Moon, Sanghoon S; Kim, Young Jin YJ; Han, Sohee S; Hwang, Mi Yeong MY; Shin, Dong Mun DM; Park, Min Young MY; Lu, Yontao Y; Yoon, Kyungheon K; Jang, Hye-Mi HM; Kim, Yun Kyoung YK; Park, Tae-Joon TJ; Song, Dae Sub DS; Park, Jae Kyung JK; Lee, Jong-Eun JE; Kim, Bong-Jo BJ
Publication Date: 2019-02-04

Variant appearance in text: rs12483959
PubMed Link: 30718733
Variant Present in the following documents:
  • 41598_2018_37832_MOESM1_ESM.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: rs12483959
PubMed Link: 29307798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population.

Gut And Liver
Chung, Goh Eun GE; Lee, Young Y; Yim, Jeong Yoon JY; Choe, Eun Kyung EK; Kwak, Min-Sun MS; Yang, Jong In JI; Park, Boram B; Lee, Jong-Eun JE; Kim, Jeong A JA; Kim, Joo Sung JS
Publication Date: 2018-05-15

Variant appearance in text: rs12483959
PubMed Link: 29271184
Variant Present in the following documents:
  • Main text
  • gnl-12-316.pdf
View BVdb publication page



Association of adiponectin gene polymorphism with nonalcoholic fatty liver disease in Taiwanese patients with type 2 diabetes.

Plos One
Hsieh, Ching-Jung CJ; Wang, Pei Wen PW; Hu, Tsung Hui TH
Publication Date: 2015

Variant appearance in text: rs12483959
PubMed Link: 26042596
Variant Present in the following documents:
  • Main text
  • pone.0127521.pdf
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: rs12483959
PubMed Link: 25624707
Variant Present in the following documents:
  • Main text
View BVdb publication page



On the analysis of a repeated measure design in genome-wide association analysis.

International Journal Of Environmental Research And Public Health
Lee, Young Y; Park, Suyeon S; Moon, Sanghoon S; Lee, Juyoung J; Elston, Robert C RC; Lee, Woojoo W; Won, Sungho S
Publication Date: 2014-11-28

Variant appearance in text: rs12483959
PubMed Link: 25464127
Variant Present in the following documents:
  • Main text
  • ijerph-11-12283.pdf
View BVdb publication page



Genetic variance in the adiponutrin gene family and childhood obesity.

Plos One
Johansson, Lovisa E LE; Johansson, Lina M LM; Danielsson, Pernilla P; Norgren, Svante S; Johansson, Stina S; Marcus, Claude C; Ridderstråle, Martin M
Publication Date: 2009

Variant appearance in text: rs12483959
PubMed Link: 19390624
Variant Present in the following documents:
  • Main text
View BVdb publication page