SAMM50 c.1365-532G>A

Variant ID: 22-44391686-G-A

NM_015380.4(SAMM50):c.1365-532G>A

This variant was identified in 32 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: rs2143571
PubMed Link: 36672614
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00106.pdf
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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: rs2143571
PubMed Link: 36580335
Variant Present in the following documents:
  • jamanetwopen-e2248803-s001.pdf
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Genetic Variation of SAMM50 Is Not an Independent Risk Factor for Alcoholic Hepatocellular Carcinoma in Caucasian Patients.

International Journal Of Molecular Sciences
Nischalke, Hans Dieter HD; Schmalz, Franziska F; Buch, Stephan S; Fischer, Janett J; Möller, Christine C; Matz-Soja, Madlen M; Krämer, Benjamin B; Langhans, Bettina B; Klüners, Alexandra A; Soyka, Michael M; Stickel, Felix F; Nattermann, Jacob J; Berg, Thomas T; Strassburg, Christian P CP; Lutz, Philipp P
Publication Date: 2022-12-05

Variant appearance in text: rs2143571
PubMed Link: 36499681
Variant Present in the following documents:
  • Main text
  • ijms-23-15353.pdf
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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: rs2143571
PubMed Link: 36000237
Variant Present in the following documents:
  • Main text
  • ibj-26-252.pdf
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Association of sorting and assembly machinery component 50 homolog gene polymorphisms with nonalcoholic fatty liver disease susceptibility.

Medicine
Qiao, Ming M; Yang, Jian-Hua JH; Zhu, Yi Y; Hu, Jun-Ping JP
Publication Date: 2022-07-22

Variant appearance in text: rs2143571
PubMed Link: 35866791
Variant Present in the following documents:
  • Main text
  • medi-101-e29958.pdf
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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: rs2143571
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
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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: rs2143571
PubMed Link: 35047847
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
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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: rs2143571
PubMed Link: 34558842
Variant Present in the following documents:
  • Main text
  • HEP4-5-1689.pdf
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Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk.

International Journal Of Molecular Sciences
Dabravolski, Siarhei A SA; Bezsonov, Evgeny E EE; Baig, Mirza S MS; Popkova, Tatyana V TV; Nedosugova, Ludmila V LV; Starodubova, Antonina V AV; Orekhov, Alexander N AN
Publication Date: 2021-04-24

Variant appearance in text: rs2143571
PubMed Link: 33923295
Variant Present in the following documents:
  • Main text
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Validating a non-invasive, ALT-based non-alcoholic fatty liver phenotype in the million veteran program.

Plos One
Serper, Marina M; Vujkovic, Marijana M; Kaplan, David E DE; Carr, Rotonya M RM; Lee, Kyung Min KM; Shao, Qing Q; Miller, Donald R DR; Reaven, Peter D PD; Phillips, Lawrence S LS; O'Donnell, Christopher J CJ; Meigs, James B JB; Wilson, Peter W F PWF; Vickers-Smith, Rachel R; Kranzler, Henry R HR; Justice, Amy C AC; Gaziano, John M JM; Muralidhar, Sumitra S; Pyarajan, Saiju S; DuVall, Scott L SL; Assimes, Themistocles L TL; Lee, Jennifer S JS; Tsao, Philip S PS; Rader, Daniel J DJ; Damrauer, Scott M SM; Lynch, Julie A JA; Saleheen, Danish D; Voight, Benjamin F BF; Chang, Kyong-Mi KM; ,
Publication Date: 2020

Variant appearance in text: rs2143571
PubMed Link: 32841307
Variant Present in the following documents:
  • Main text
  • pone.0237430.pdf
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Liver Function and Risk of Type 2 Diabetes: Bidirectional Mendelian Randomization Study.

Diabetes
De Silva, N Maneka G NMG; Borges, Maria Carolina MC; Hingorani, Aroon D AD; Engmann, Jorgen J; Shah, Tina T; Zhang, Xiaoshuai X; Luan, Jian'an J; Langenberg, Claudia C; Wong, Andrew A; Kuh, Diana D; Chambers, John C JC; Zhang, Weihua W; Jarvelin, Marjo-Ritta MR; Sebert, Sylvain S; Auvinen, Juha J; , ; Gaunt, Tom R TR; Lawlor, Deborah A DA
Publication Date: 2019-08

Variant appearance in text: rs2143571
PubMed Link: 31088856
Variant Present in the following documents:
  • Main text
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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: rs2143571
PubMed Link: 30564000
Variant Present in the following documents:
  • Main text
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Promoting genetics in non-alcoholic fatty liver disease: Combined risk score through polymorphisms and clinical variables.

World Journal Of Gastroenterology
Vespasiani-Gentilucci, Umberto U; Gallo, Paolo P; Dell'Unto, Chiara C; Volpentesta, Mara M; Antonelli-Incalzi, Raffaele R; Picardi, Antonio A
Publication Date: 2018-11-21

Variant appearance in text: rs2143571
PubMed Link: 30487694
Variant Present in the following documents:
  • Main text
  • WJG-24-4835.pdf
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Pathogenesis of non-alcoholic fatty liver disease in children and adolescence: From "two hit theory" to "multiple hit model".

World Journal Of Gastroenterology
Fang, Yan-Lan YL; Chen, Hong H; Wang, Chun-Lin CL; Liang, Li L
Publication Date: 2018-07-21

Variant appearance in text: rs2143571
PubMed Link: 30038464
Variant Present in the following documents:
  • Main text
  • WJG-24-2974.pdf
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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: rs2143571
PubMed Link: 29307798
Variant Present in the following documents:
  • Main text
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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: rs2143571
PubMed Link: 29271184
Variant Present in the following documents:
  • Main text
  • gnl-12-316.pdf
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Regional differences in genetic susceptibility to non-alcoholic liver disease in two distinct Indian ethnicities.

World Journal Of Hepatology
Bale, Govardhan G; Steffie, Avanthi Urmila AU; Ravi Kanth, Vishnubhotla Venkata VV; Rao, Padaki Nagaraja PN; Sharma, Mithun M; Sasikala, Mitnala M; Reddy, Duvvur Nageshwar DN
Publication Date: 2017-09-18

Variant appearance in text: rs2143571
PubMed Link: 28989566
Variant Present in the following documents:
  • Main text
  • WJH-9-1101.pdf
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Genetics of non-alcoholic fatty liver disease: From susceptibility and nutrient interactions to management.

World Journal Of Hepatology
Ravi Kanth, Vishnubhotla Venkata VV; Sasikala, Mitnala M; Sharma, Mithun M; Rao, Padaki Nagaraja PN; Reddy, Duvvuru Nageshwar DN
Publication Date: 2016-07-18

Variant appearance in text: rs2143571
PubMed Link: 27458502
Variant Present in the following documents:
  • Main text
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Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

Scientific Reports
Below, Jennifer E JE; Parra, Esteban J EJ; Gamazon, Eric R ER; Torres, Jason J; Krithika, S S; Candille, Sophie S; Lu, Yingchang Y; Manichakul, Ani A; Peralta-Romero, Jesus J; Duan, Qing Q; Li, Yun Y; Morris, Andrew P AP; Gottesman, Omri O; Bottinger, Erwin E; Wang, Xin-Qun XQ; Taylor, Kent D KD; Ida Chen, Y-D YD; Rotter, Jerome I JI; Rich, Stephen S SS; Loos, Ruth J F RJ; Tang, Hua H; Cox, Nancy J NJ; Cruz, Miguel M; Hanis, Craig L CL; Valladares-Salgado, Adan A
Publication Date: 2016-01-19

Variant appearance in text: rs2143571
PubMed Link: 26780889
Variant Present in the following documents:
  • Main text
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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: SAMM50: 1365-532G>A; rs2143571
PubMed Link: 26740948
Variant Present in the following documents:
  • Main text
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Insights from Genome-Wide Association Analyses of Nonalcoholic Fatty Liver Disease.

Seminars In Liver Disease
Kahali, Bratati B; Halligan, Brian B; Speliotes, Elizabeth K EK
Publication Date: 2015-11

Variant appearance in text: rs2143571
PubMed Link: 26676813
Variant Present in the following documents:
  • Main text
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Genetic Variants in the SAMM50 Gene Create Susceptibility to Nonalcoholic Fatty Liver Disease in a Chinese Han Population.

Hepatitis Monthly
Chen, Lizhen L; Lin, Zhonghua Z; Jiang, Man M; Lu, Linlin L; Zhang, Haiying H; Xin, Yongning Y; Jiang, Xiangjun X; Xuan, Shiying S
Publication Date: 2015-10

Variant appearance in text: rs2143571
PubMed Link: 26587038
Variant Present in the following documents:
  • Main text
  • hepatmon-15-10-31076.pdf
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Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease.

Bmj Open Gastroenterology
Wood, Kayleigh L KL; Miller, Michael H MH; Dillon, John F JF
Publication Date: 2015

Variant appearance in text: rs2143571
PubMed Link: 26462272
Variant Present in the following documents:
  • Main text
  • bmjgast-2014-000019supp_tables.pdf
  • bmjgast-2014-000019.pdf
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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: rs2143571
PubMed Link: 25624707
Variant Present in the following documents:
  • Main text
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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: rs2143571
PubMed Link: 25464127
Variant Present in the following documents:
  • Main text
  • ijerph-11-12283.pdf
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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: rs2143571
PubMed Link: 25083080
Variant Present in the following documents:
  • Main text
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Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects: A pilot study.

World Journal Of Hepatology
Kanth, Vishnubhotla Venkata Ravi VV; Sasikala, Mitnala M; Rao, Padaki Nagaraja PN; Steffie Avanthi, Urmila U; Rao, Kalashikam Rajender KR; Nageshwar Reddy, Duvvuru D
Publication Date: 2014-06-27

Variant appearance in text: rs2143571
PubMed Link: 25018854
Variant Present in the following documents:
  • Main text
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Pediatric fatty liver disease: role of ethnicity and genetics.

World Journal Of Gastroenterology
Marzuillo, Pierluigi P; Miraglia del Giudice, Emanuele E; Santoro, Nicola N
Publication Date: 2014-06-21

Variant appearance in text: rs2143571
PubMed Link: 24966605
Variant Present in the following documents:
  • Main text
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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: rs2143571
PubMed Link: 22719876
Variant Present in the following documents:
  • Main text
  • pone.0038322.pdf
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The association of genetic variability in patatin-like phospholipase domain-containing protein 3 (PNPLA3) with histological severity of nonalcoholic fatty liver disease.

Hepatology (Baltimore, Md.)
Rotman, Yaron Y; Koh, Christopher C; Zmuda, Joseph M JM; Kleiner, David E DE; Liang, T Jake TJ; ,
Publication Date: 2010-09

Variant appearance in text: rs2143571
PubMed Link: 20684021
Variant Present in the following documents:
  • Main text
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Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

American Journal Of Human Genetics
Yuan, Xin X; Waterworth, Dawn D; Perry, John R B JR; Lim, Noha N; Song, Kijoung K; Chambers, John C JC; Zhang, Weihua W; Vollenweider, Peter P; Stirnadel, Heide H; Johnson, Toby T; Bergmann, Sven S; Beckmann, Noam D ND; Li, Yun Y; Ferrucci, Luigi L; Melzer, David D; Hernandez, Dena D; Singleton, Andrew A; Scott, James J; Elliott, Paul P; Waeber, Gerard G; Cardon, Lon L; Frayling, Timothy M TM; Kooner, Jaspal S JS; Mooser, Vincent V
Publication Date: 2008-10

Variant appearance in text: rs2143571
PubMed Link: 18940312
Variant Present in the following documents:
  • Main text
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