PNPLA3 c.486+86G>A

Variant ID: 22-44324855-G-A

NM_025225.2(PNPLA3):c.486+86G>A

This variant was identified in 21 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: rs3747207
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Non-Alcoholic Fatty Liver Disease and Vitamin D in the UK Biobank: A Two-Sample Bidirectional Mendelian Randomisation Study.

Nutrients
Zhang, Zixuan Z; Burrows, Kimberley K; Fuller, Harriett H; Speliotes, Elizabeth K EK; Abeysekera, Kushala W M KWM; Thorne, James L JL; Lewis, Sarah J SJ; Zulyniak, Michael A MA; Moore, J Bernadette JB
Publication Date: 2023-03-16

Variant appearance in text: rs3747207
PubMed Link: 36986172
Variant Present in the following documents:
  • Main text
  • nutrients-15-01442.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: rs3747207
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: rs3747207
PubMed Link: 36447249
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1394.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs3747207
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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: rs3747207
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.

Communications Biology
Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM
Publication Date: 2022-06-16

Variant appearance in text: rs3747207
PubMed Link: 35710628
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3529.pdf
  • 42003_2022_3529_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Assessing causal relationships between COVID-19 and non-alcoholic fatty liver disease.

Journal Of Hepatology
Liu, Dong D; Zhang, Qianlong Q; Bai, Pinqing P; Zhao, Jian J
Publication Date: 2022-03

Variant appearance in text: rs3747207
PubMed Link: 34813919
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Assessing causal relationships between COVID-19 and non-alcoholic fatty liver disease.

Journal Of Hepatology
Liu, Dong D; Zhang, Qianlong Q; Bai, Pinqing P; Zhao, Jian J
Publication Date: 2021-11-20

Variant appearance in text: rs3747207
PubMed Link: 34813919
Variant Present in the following documents:
  • 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: rs3747207
PubMed Link: 34558842
Variant Present in the following documents:
  • Main text
  • HEP4-5-1689.pdf
View BVdb publication page



Genome-Wide Association Study of NAFLD Using Electronic Health Records.

Hepatology Communications
Fairfield, Cameron J CJ; Drake, Thomas M TM; Pius, Riinu R; Bretherick, Andrew D AD; Campbell, Archie A; Clark, David W DW; Fallowfield, Jonathan A JA; Hayward, Caroline C; Henderson, Neil C NC; Joshi, Peter K PK; Mills, Nicholas L NL; Porteous, David J DJ; Ramachandran, Prakash P; Semple, Robert K RK; Shaw, Catherine A CA; Sudlow, Cathie L M CLM; Timmers, Paul R H J PRHJ; Wilson, James F JF; Wigmore, Stephen J SJ; Harrison, Ewen M EM; Spiliopoulou, Athina A
Publication Date: 2022-02

Variant appearance in text: rs3747207
PubMed Link: 34535985
Variant Present in the following documents:
  • Main text
  • HEP4-6-297.pdf
View BVdb publication page



Genome-Wide Association Study of NAFLD Using Electronic Health Records.

Hepatology Communications
Fairfield, Cameron J CJ; Drake, Thomas M TM; Pius, Riinu R; Bretherick, Andrew D AD; Campbell, Archie A; Clark, David W DW; Fallowfield, Jonathan A JA; Hayward, Caroline C; Henderson, Neil C NC; Joshi, Peter K PK; Mills, Nicholas L NL; Porteous, David J DJ; Ramachandran, Prakash P; Semple, Robert K RK; Shaw, Catherine A CA; Sudlow, Cathie L M CLM; Timmers, Paul R H J PRHJ; Wilson, James F JF; Wigmore, Stephen J SJ; Harrison, Ewen M EM; Spiliopoulou, Athina A
Publication Date: 2021-09-17

Variant appearance in text: rs3747207
PubMed Link: 34535985
Variant Present in the following documents:
  • Main text
  • HEP4-6-297.pdf
View BVdb publication page



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: 486+86G>A; rs3747207
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: PNPLA3: 486+86G>A; rs3747207
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
View BVdb publication page



Genomics of Human Fibrotic Diseases: Disordered Wound Healing Response.

International Journal Of Molecular Sciences
Stone, Rivka C RC; Chen, Vivien V; Burgess, Jamie J; Pannu, Sukhmani S; Tomic-Canic, Marjana M
Publication Date: 2020-11-14

Variant appearance in text: rs3747207
PubMed Link: 33202590
Variant Present in the following documents:
  • Main text
  • ijms-21-08590.pdf
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: rs3747207
PubMed Link: 32766472
Variant Present in the following documents:
  • Main text
  • HEP4-4-1112.pdf
View BVdb publication page



Molecular Mechanisms: Connections between Nonalcoholic Fatty Liver Disease, Steatohepatitis and Hepatocellular Carcinoma.

International Journal Of Molecular Sciences
Kanda, Tatsuo T; Goto, Taichiro T; Hirotsu, Yosuke Y; Masuzaki, Ryota R; Moriyama, Mitsuhiko M; Omata, Masao M
Publication Date: 2020-02-23

Variant appearance in text: rs3747207
PubMed Link: 32102237
Variant Present in the following documents:
  • Main text
  • ijms-21-01525.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: rs3747207
PubMed Link: 31311600
Variant Present in the following documents:
  • Main text
  • 12916_2019_Article_1364.pdf
View BVdb publication page



Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

Alcoholism, Clinical And Experimental Research
Whitfield, John B JB; Zhu, Gu G; Madden, Pamela A F PAF; Montgomery, Grant W GW; Heath, Andrew C AC; Martin, Nicholas G NG
Publication Date: 2019-03

Variant appearance in text: rs3747207
PubMed Link: 30589442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetically Determined Platelet Count and Risk of Cardiovascular Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Gill, Dipender D; Monori, Grace G; Georgakis, Marios K MK; Tzoulaki, Ioanna I; Laffan, Mike M
Publication Date: 2018-12

Variant appearance in text: rs3747207
PubMed Link: 30571169
Variant Present in the following documents:
  • atv-38-2862-s001.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: rs3747207
PubMed Link: 28776448
Variant Present in the following documents:
  • Main text
View BVdb publication page