MBOAT7 c.*549G>A

Variant ID: 19-54677189-C-T

NM_024298.3(MBOAT7):c.*549G>A

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs8736
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM4_ESM.pdf
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A metabolic associated fatty liver disease risk variant in MBOAT7 regulates toll like receptor induced outcomes.

Nature Communications
Alharthi, Jawaher J; Bayoumi, Ali A; Thabet, Khaled K; Pan, Ziyan Z; Gloss, Brian S BS; Latchoumanin, Olivier O; Lundberg, Mischa M; Twine, Natalie A NA; McLeod, Duncan D; Alenizi, Shafi S; Adams, Leon A LA; Weltman, Martin M; Berg, Thomas T; Liddle, Christopher C; George, Jacob J; Eslam, Mohammed M
Publication Date: 2022-12-06

Variant appearance in text: rs8736
PubMed Link: 36473860
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_35158.pdf
  • 41467_2022_35158_MOESM1_ESM.pdf
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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs8736
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Membrane-bound O-acyltransferase 7 (MBOAT7)-driven phosphatidylinositol remodeling in advanced liver disease.

Journal Of Lipid Research
Varadharajan, Venkateshwari V; Massey, William J WJ; Brown, J Mark JM
Publication Date: 2022-07

Variant appearance in text: rs8736
PubMed Link: 35636492
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.

Bmc Medicine
Harshfield, Eric L EL; Fauman, Eric B EB; Stacey, David D; Paul, Dirk S DS; Ziemek, Daniel D; Ong, Rachel M Y RMY; Danesh, John J; Butterworth, Adam S AS; Rasheed, Asif A; Sattar, Taniya T; Zameer-Ul-Asar, ; Saleem, Imran I; Hina, Zoubia Z; Ishtiaq, Unzila U; Qamar, Nadeem N; Mallick, Nadeem Hayat NH; Yaqub, Zia Z; Saghir, Tahir T; Rizvi, Syed Nadeem Hasan SNH; Memon, Anis A; Ishaq, Mohammad M; Rasheed, Syed Zahed SZ; Memon, Fazal-Ur-Rehman FU; Jalal, Anjum A; Abbas, Shahid S; Frossard, Philippe P; Saleheen, Danish D; Wood, Angela M AM; Griffin, Julian L JL; Koulman, Albert A
Publication Date: 2021-09-10

Variant appearance in text: rs8736
PubMed Link: 34503513
Variant Present in the following documents:
  • Main text
  • 12916_2021_Article_2087.pdf
View BVdb publication page



Genome-wide association of individual vulnerability with alcohol-associated liver disease: A Korean genome and epidemiology study.

Hepatology (Baltimore, Md.)
Kim, Kwang Yoon KY; Kim, Jung Oh JO; Kim, Young-Sang YS; Choi, Ja-Eun JE; Park, Jae-Min JM; Han, Kunhee K; Park, Da-Hyun DH; Park, Yon Chul YC; Kim, Bom Taeck BT; Hong, Kyung-Won KW
Publication Date: 2022-02

Variant appearance in text: rs8736
PubMed Link: 34387878
Variant Present in the following documents:
  • Main text
  • HEP-75-391.pdf
View BVdb publication page



Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Nature Communications
Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK
Publication Date: 2021-02-05

Variant appearance in text: rs8736
PubMed Link: 33547301
Variant Present in the following documents:
  • 41467_2020_20870_MOESM1_ESM.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: rs8736
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



FADS genetic and metabolomic analyses identify the ∆5 desaturase (FADS1) step as a critical control point in the formation of biologically important lipids.

Scientific Reports
Reynolds, Lindsay M LM; Dutta, Rahul R; Seeds, Michael C MC; Lake, Kirsten N KN; Hallmark, Brian B; Mathias, Rasika A RA; Howard, Timothy D TD; Chilton, Floyd H FH
Publication Date: 2020-09-28

Variant appearance in text: rs8736
PubMed Link: 32985521
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_71948.pdf
View BVdb publication page



MBOAT7 down-regulation by genetic and environmental factors predisposes to MAFLD.

Ebiomedicine
Meroni, Marica M; Longo, Miriam M; Fracanzani, Anna L AL; Dongiovanni, Paola P
Publication Date: 2020-07

Variant appearance in text: rs8736
PubMed Link: 32629394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of hepatic Mboat7 leads to liver fibrosis.

Gut
Thangapandi, Veera Raghavan VR; Knittelfelder, Oskar O; Brosch, Mario M; Patsenker, Eleonora E; Vvedenskaya, Olga O; Buch, Stephan S; Hinz, Sebastian S; Hendricks, Alexander A; Nati, Marina M; Herrmann, Alexander A; Rekhade, Devavrat Ravindra DR; Berg, Thomas T; Matz-Soja, Madlen M; Huse, Klaus K; Klipp, Edda E; Pauling, Josch K JK; Wodke, Judith Ah JA; Miranda Ackerman, Jacobo J; Bonin, Malte von MV; Aigner, Elmar E; Datz, Christian C; von Schönfels, Witigo W; Nehring, Sophie S; Zeissig, Sebastian S; Röcken, Christoph C; Dahl, Andreas A; Chavakis, Triantafyllos T; Stickel, Felix F; Shevchenko, Andrej A; Schafmayer, Clemens C; Hampe, Jochen J; Subramanian, Pallavi P
Publication Date: 2021-05

Variant appearance in text: rs8736
PubMed Link: 32591434
Variant Present in the following documents:
  • Main text
View BVdb publication page



MetaPhat: Detecting and Decomposing Multivariate Associations From Univariate Genome-Wide Association Statistics.

Frontiers In Genetics
Lin, Jake J; Tabassum, Rubina R; Ripatti, Samuli S; Pirinen, Matti M
Publication Date: 2020

Variant appearance in text: rs8736
PubMed Link: 32499813
Variant Present in the following documents:
  • Main text
  • fgene-11-00431.pdf
View BVdb publication page



Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Olafsson, Sigurgeir S; Alexandersson, Kristjan F KF; Gizurarson, Johann G K JGK; Hauksdottir, Katrin K; Gunnarsson, Orvar O; Olafsson, Karl K; Gudmundsson, Julius J; Stacey, Simon N SN; Sveinbjornsson, Gardar G; Saemundsdottir, Jona J; Bjornsson, Einar S ES; Olafsson, Sigurdur S; Bjornsson, Sigurdur S; Orvar, Kjartan B KB; Vikingsson, Arnor A; Geirsson, Arni J AJ; Arinbjarnarson, Sturla S; Bjornsdottir, Gyda G; Thorgeirsson, Thorgeir E TE; Sigurdsson, Snaevar S; Halldorsson, Gisli H GH; Magnusson, Olafur T OT; Masson, Gisli G; Holm, Hilma H; Jonsdottir, Ingileif I; Sigurdardottir, Olof O; Eyjolfsson, Gudmundur I GI; Olafsson, Isleifur I; Sulem, Patrick P; Thorsteinsdottir, Unnur U; Jonsson, Thorvaldur T; Rafnar, Thorunn T; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Publication Date: 2020-01

Variant appearance in text: rs8736
PubMed Link: 31666285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

Nature Communications
Tabassum, Rubina R; Rämö, Joel T JT; Ripatti, Pietari P; Koskela, Jukka T JT; Kurki, Mitja M; Karjalainen, Juha J; Palta, Priit P; Hassan, Shabbeer S; Nunez-Fontarnau, Javier J; Kiiskinen, Tuomo T J TTJ; Söderlund, Sanni S; Matikainen, Niina N; Gerl, Mathias J MJ; Surma, Michal A MA; Klose, Christian C; Stitziel, Nathan O NO; Laivuori, Hannele H; Havulinna, Aki S AS; Service, Susan K SK; Salomaa, Veikko V; Pirinen, Matti M; , ; Jauhiainen, Matti M; Daly, Mark J MJ; Freimer, Nelson B NB; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Simons, Kai K; Ripatti, Samuli S
Publication Date: 2019-09-24

Variant appearance in text: rs8736
PubMed Link: 31551469
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_11954.pdf
View BVdb publication page



Lack of evidence supporting a role of TMC4-rs641738 missense variant-MBOAT7- intergenic downstream variant-in the Susceptibility to Nonalcoholic Fatty Liver Disease.

Scientific Reports
Sookoian, Silvia S; Flichman, Diego D; Garaycoechea, Martin E ME; Gazzi, Carla C; Martino, Julio San JS; Castaño, Gustavo O GO; Pirola, Carlos J CJ
Publication Date: 2018-03-23

Variant appearance in text: rs8736
PubMed Link: 29572551
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23453.pdf
View BVdb publication page



MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals.

Scientific Reports
Donati, Benedetta B; Dongiovanni, Paola P; Romeo, Stefano S; Meroni, Marica M; McCain, Misti M; Miele, Luca L; Petta, Salvatore S; Maier, Silvia S; Rosso, Chiara C; De Luca, Laura L; Vanni, Ester E; Grimaudo, Stefania S; Romagnoli, Renato R; Colli, Fabio F; Ferri, Flaminia F; Mancina, Rosellina Margherita RM; Iruzubieta, Paula P; Craxi, Antonio A; Fracanzani, Anna Ludovica AL; Grieco, Antonio A; Corradini, Stefano Ginanni SG; Aghemo, Alessio A; Colombo, Massimo M; Soardo, Giorgio G; Bugianesi, Elisabetta E; Reeves, Helen H; Anstee, Quentin M QM; Fargion, Silvia S; Valenti, Luca L
Publication Date: 2017-07-03

Variant appearance in text: rs8736
PubMed Link: 28674415
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_4991.pdf
View BVdb publication page



Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine
Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN
Publication Date: 2016-12-13

Variant appearance in text: rs8736
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
View BVdb publication page



The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent.

Gastroenterology
Mancina, Rosellina Margherita RM; Dongiovanni, Paola P; Petta, Salvatore S; Pingitore, Piero P; Meroni, Marica M; Rametta, Raffaela R; Borén, Jan J; Montalcini, Tiziana T; Pujia, Arturo A; Wiklund, Olov O; Hindy, George G; Spagnuolo, Rocco R; Motta, Benedetta Maria BM; Pipitone, Rosaria Maria RM; Craxì, Antonio A; Fargion, Silvia S; Nobili, Valerio V; Käkelä, Pirjo P; Kärjä, Vesa V; Männistö, Ville V; Pihlajamäki, Jussi J; Reilly, Dermot F DF; Castro-Perez, Jose J; Kozlitina, Julia J; Valenti, Luca L; Romeo, Stefano S
Publication Date: 2016-05

Variant appearance in text: rs8736
PubMed Link: 26850495
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs8736
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page