PNPLA3 c.1217+229C>T

Variant ID: 22-44340904-C-T

NM_025225.2(PNPLA3):c.1217+229C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.

Genome Medicine
Johnson, Ruth R; Ding, Yi Y; Venkateswaran, Vidhya V; Bhattacharya, Arjun A; Boulier, Kristin K; Chiu, Alec A; Knyazev, Sergey S; Schwarz, Tommer T; Freund, Malika M; Zhan, Lingyu L; Burch, Kathryn S KS; Caggiano, Christa C; Hill, Brian B; Rakocz, Nadav N; Balliu, Brunilda B; Denny, Christopher T CT; Sul, Jae Hoon JH; Zaitlen, Noah N; Arboleda, Valerie A VA; Halperin, Eran E; Sankararaman, Sriram S; Butte, Manish J MJ; , ; Lajonchere, Clara C; Geschwind, Daniel H DH; Pasaniuc, Bogdan B
Publication Date: 2022-09-09

Variant appearance in text: rs2294915
PubMed Link: 36085083
Variant Present in the following documents:
  • Main text
  • 13073_2022_Article_1106.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: rs2294915
PubMed Link: 35788059
Variant Present in the following documents:
  • Main text
  • gutjnl-2022-327196.pdf
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease.

Hgg Advances
Miao, Zong Z; Garske, Kristina M KM; Pan, David Z DZ; Koka, Amogha A; Kaminska, Dorota D; Männistö, Ville V; Sinsheimer, Janet S JS; Pihlajamäki, Jussi J; Pajukanta, Päivi P
Publication Date: 2022-01-13

Variant appearance in text: rs2294915
PubMed Link: 35047847
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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: rs2294915
PubMed Link: 34558842
Variant Present in the following documents:
  • Main text
  • HEP4-5-1689.pdf
View BVdb publication page



PNPLA3 and COVID-19 outcomes: Thinking outside the box might explain the biology behind pleiotropic effects of rs738409 on the immune system.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Pirola, Carlos J CJ; Sookoian, Silvia S
Publication Date: 2021-11

Variant appearance in text: rs2294915
PubMed Link: 34455682
Variant Present in the following documents:
  • Main text
  • LIV-41-2801.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: rs2294915
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genome-Wide Association Study of Liver Fat: The Multiethnic Cohort Adiposity Phenotype Study.

Hepatology Communications
Park, S Lani SL; Li, Yuqing Y; Sheng, Xin X; Hom, Victor V; Xia, Lucy L; Zhao, Kechen K; Pooler, Loreall L; Setiawan, V Wendy VW; Lim, Unhee U; Monroe, Kristine R KR; Wilkens, Lynne R LR; Kristal, Bruce S BS; Lampe, Johanna W JW; Hullar, Meredith M; Shepherd, John J; Loo, Lenora L M LLM; Ernst, Thomas T; Franke, Adrian A AA; Tiirikainen, Maarit M; Haiman, Christopher A CA; Stram, Daniel O DO; Le Marchand, Loïc L; Cheng, Iona I
Publication Date: 2020-08

Variant appearance in text: rs2294915
PubMed Link: 32766472
Variant Present in the following documents:
  • Main text
  • HEP4-4-1112.pdf
View BVdb publication page



GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

Bmc Medicine
Namjou, Bahram B; Lingren, Todd T; Huang, Yongbo Y; Parameswaran, Sreeja S; Cobb, Beth L BL; Stanaway, Ian B IB; Connolly, John J JJ; Mentch, Frank D FD; Benoit, Barbara B; Niu, Xinnan X; Wei, Wei-Qi WQ; Carroll, Robert J RJ; Pacheco, Jennifer A JA; Harley, Isaac T W ITW; Divanovic, Senad S; Carrell, David S DS; Larson, Eric B EB; Carey, David J DJ; Verma, Shefali S; Ritchie, Marylyn D MD; Gharavi, Ali G AG; Murphy, Shawn S; Williams, Marc S MS; Crosslin, David R DR; Jarvik, Gail P GP; Kullo, Iftikhar J IJ; Hakonarson, Hakon H; Li, Rongling R; , ; Xanthakos, Stavra A SA; Harley, John B JB
Publication Date: 2019-07-17

Variant appearance in text: rs2294915
PubMed Link: 31311600
Variant Present in the following documents:
  • Main text
  • 12916_2019_Article_1364.pdf
View BVdb publication page



An exploratory genome-wide analysis of genetic risk for alcoholic hepatitis.

Scandinavian Journal Of Gastroenterology
Beaudoin, James J JJ; Long, Nanye N; Liangpunsakul, Suthat S; Puri, Puneet P; Kamath, Patrick S PS; Shah, Vijay V; Sanyal, Arun J AJ; Crabb, David W DW; Chalasani, Naga P NP; Urban, Thomas J TJ; ,
Publication Date: 2017-11

Variant appearance in text: rs2294915
PubMed Link: 28776448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

Clinical Pharmacology And Therapeutics
Liu, Y Y; Fernandez, C A CA; Smith, C C; Yang, W W; Cheng, C C; Panetta, J C JC; Kornegay, N N; Liu, C C; Ramsey, L B LB; Karol, S E SE; Janke, L J LJ; Larsen, E C EC; Winick, N N; Carroll, W L WL; Loh, M L ML; Raetz, E A EA; Hunger, S P SP; Devidas, M M; Yang, J J JJ; Mullighan, C G CG; Zhang, J J; Evans, W E WE; Jeha, S S; Pui, C-H CH; Relling, M V MV
Publication Date: 2017-07

Variant appearance in text: rs2294915
PubMed Link: 28090653
Variant Present in the following documents:
  • Main text
View BVdb publication page