Publications:

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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: rs11887534

PubMed Link: 36580335

Variant Present in the following documents:

• jamanetwopen-e2248803-s001.pdf

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Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications

Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK

Publication Date: 2022-11

Variant appearance in text: rs11887534

PubMed Link: 36098472

Variant Present in the following documents:

• HEP4-6-3120-s001.xlsx, sheet 7

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Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.

Nature Communications

Yin, Xianyong X; Chan, Lap Sum LS; Bose, Debraj D; Jackson, Anne U AU; VandeHaar, Peter P; Locke, Adam E AE; Fuchsberger, Christian C; Stringham, Heather M HM; Welch, Ryan R; Yu, Ketian K; Fernandes Silva, Lilian L; Service, Susan K SK; Zhang, Daiwei D; Hector, Emily C EC; Young, Erica E; Ganel, Liron L; Das, Indraniel I; Abel, Haley H; Erdos, Michael R MR; Bonnycastle, Lori L LL; Kuusisto, Johanna J; Stitziel, Nathan O NO; Hall, Ira M IM; Wagner, Gregory R GR; , ; Kang, Jian J; Morrison, Jean J; Burant, Charles F CF; Collins, Francis S FS; Ripatti, Samuli S; Palotie, Aarno A; Freimer, Nelson B NB; Mohlke, Karen L KL; Scott, Laura J LJ; Wen, Xiaoquan X; Fauman, Eric B EB; Laakso, Markku M; Boehnke, Michael M

Publication Date: 2022-03-28

Variant appearance in text: rs11887534

PubMed Link: 35347128

Variant Present in the following documents:

• Main text
• 41467_2022_Article_29143.pdf

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Mendelian randomization study of circulating lipids and biliary tract cancer among East Asians.

Bmc Cancer

Wang, Jun J; Zhuge, Jinke J; Feng, Dongxu D; Zhang, Bo B; Xu, Jianying J; Zhao, Dongkang D; Fei, Zhewei Z; Huang, Xia X; Shi, Wenjie W

Publication Date: 2022-03-15

Variant appearance in text: rs11887534

PubMed Link: 35291981

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9382.pdf

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Association Between Regular Use of Gastric Acid Suppressants and Subsequent Risk of Cholelithiasis: A Prospective Cohort Study of 0.47 Million Participants.

Frontiers In Pharmacology

Yang, Man M; Xia, Bin B; Lu, Yawen Y; He, Qiangsheng Q; Lin, Yanyan Y; Yue, Ping P; Bai, Bing B; Dong, Chunlu C; Meng, Wenbo W; Qi, Jian J; Yuan, Jinqiu J

Publication Date: 2021

Variant appearance in text: rs11887534

PubMed Link: 35153765

Variant Present in the following documents:

• Main text
• fphar-12-813587.pdf

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A genetic sum score of effect alleles associated with serum lipid concentrations interacts with educational attainment.

Scientific Reports

Emmel, Carina C; Frank, Mirjam M; Dragano, Nico N; Nöthen, Markus M MM; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Schmidt, Börge B

Publication Date: 2021-08-16

Variant appearance in text: rs11887534

PubMed Link: 34400708

Variant Present in the following documents:

• Main text
• 41598_2021_Article_95970.pdf

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An association of ABCG8: rs11887534 polymorphism and HDL-cholesterol response to statin treatment in the Polish population.

Pharmacological Reports : Pr

Sałacka, A A; Boroń, A A; Gorący, I I; Hornowska, I I; Safranow, K K; Ciechanowicz, A A

Publication Date: 2021-12

Variant appearance in text: rs11887534

PubMed Link: 34173968

Variant Present in the following documents:

• Main text

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A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Orphanet Journal Of Rare Diseases

Mandato, Claudia C; Siano, Maria Anna MA; Nazzaro, Lucia L; Gelzo, Monica M; Francalanci, Paola P; Rizzo, Francesca F; D'Agostino, Ylenia Y; Morleo, Manuela M; Brillante, Simona S; Weisz, Alessandro A; Franco, Brunella B; Vajro, Pietro P

Publication Date: 2021-04-14

Variant appearance in text: rs11887534

PubMed Link: 33853651

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs11887534

PubMed Link: 33547301

Variant Present in the following documents:

• Main text
• 41467_2020_Article_20870.pdf
• 41467_2020_20870_MOESM1_ESM.pdf

View BVdb publication page

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Current and New Biomarkers for Early Detection, Prognostic Stratification, and Management of Gallbladder Cancer Patients.

Cancers

García, Patricia P; Lamarca, Angela A; Díaz, Javier J; Carrera, Enrique E; Roa, Juan Carlos JC; On Behalf Of The European-Latin American Escalon Consortium,

Publication Date: 2020-12-07

Variant appearance in text: rs11887534

PubMed Link: 33297469

Variant Present in the following documents:

• Main text
• cancers-12-03670.pdf

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The Role of Gallstones in Gallbladder Cancer in India: A Mendelian Randomization Study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Mhatre, Sharayu S; Richmond, Rebecca C RC; Chatterjee, Nilanjan N; Rajaraman, Preetha P; Wang, Zhaoming Z; Zhang, Haoyu H; Badwe, Rajendra R; Goel, Mahesh M; Patkar, Shraddha S; Shrikhande, Shailesh V SV; Patil, Prachi S PS; Davey Smith, George G; Relton, Caroline L CL; Dikshit, Rajesh P RP

Publication Date: 2021-02

Variant appearance in text: rs11887534

PubMed Link: 33187967

Variant Present in the following documents:

• Main text

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Increased absorption of phytosterols is the simplest and most plausible explanation for coronary artery disease risk not accounted for by non-HDL cholesterol in high cholesterol absorbers.

European Heart Journal

Helgadottir, Anna A; Thorleifsson, Gudmar G; Stefansson, Kari K

Publication Date: 2021-01-20

Variant appearance in text: rs11887534

PubMed Link: 33167008

Variant Present in the following documents:

• Main text
• ehaa902.pdf

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs11887534

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

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Copy number variants in lipid metabolism genes are associated with gallstones disease in men.

European Journal Of Human Genetics : Ejhg

Pérez-Palma, Eduardo E; Bustos, Bernabé I BI; Lal, Dennis D; Buch, Stephan S; Azocar, Lorena L; Toliat, Mohammad Reza MR; Lieb, Wolfgang W; Franke, Andre A; Hinz, Sebastian S; Burmeister, Greta G; von Shönfels, Witigo W; Schafmayer, Clemens C; Ahnert, Peter P; Völzke, Henry H; Völker, Uwe U; Homuth, Georg G; Lerch, Markus M MM; Puschel, Klaus K; Gutiérrez, Rodrigo A RA; Hampe, Jochen J; Nürnberg, Peter P; Miquel, Juan Francisco JF; De Ferrari, Giancarlo V GV

Publication Date: 2020-02

Variant appearance in text: rs11887534

PubMed Link: 31485028

Variant Present in the following documents:

• Main text
• 41431_2019_Article_501.pdf

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Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.

Scientific Reports

Vidal, Elena A EA; Moyano, Tomás C TC; Bustos, Bernabé I BI; Pérez-Palma, Eduardo E; Moraga, Carol C; Riveras, Eleodoro E; Montecinos, Alejandro A; Azócar, Lorena L; Soto, Daniela C DC; Vidal, Mabel M; Di Genova, Alex A; Puschel, Klaus K; Nürnberg, Peter P; Buch, Stephan S; Hampe, Jochen J; Allende, Miguel L ML; Cambiazo, Verónica V; González, Mauricio M; Hodar, Christian C; Montecino, Martín M; Muñoz-Espinoza, Claudia C; Orellana, Ariel A; Reyes-Jara, Angélica A; Travisany, Dante D; Vizoso, Paula P; Moraga, Mauricio M; Eyheramendy, Susana S; Maass, Alejandro A; De Ferrari, Giancarlo V GV; Miquel, Juan Francisco JF; Gutiérrez, Rodrigo A RA

Publication Date: 2019-02-14

Variant appearance in text: rs11887534

PubMed Link: 30765821

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39391.pdf

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: rs11887534

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs11887534

PubMed Link: 28652652

Variant Present in the following documents:

• Main text
• WJG-23-3978.pdf

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The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics

Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN

Publication Date: 2016-10-06

Variant appearance in text: rs11887534

PubMed Link: 27716216

Variant Present in the following documents:

• 12920_2016_223_MOESM1_ESM.pdf

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Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

Bmc Genomics

Ligthart, Symen S; Vaez, Ahmad A; Hsu, Yi-Hsiang YH; , ; , ; , ; Stolk, Ronald R; Uitterlinden, André G AG; Hofman, Albert A; Alizadeh, Behrooz Z BZ; Franco, Oscar H OH; Dehghan, Abbas A

Publication Date: 2016-06-10

Variant appearance in text: rs11887534

PubMed Link: 27286809

Variant Present in the following documents:

• Main text
• 12864_2016_Article_2712.pdf

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Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.

Genomics Data

John, Sumi Elsa SE; Thareja, Gaurav G; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-03

Variant appearance in text: rs11887534

PubMed Link: 26484159

Variant Present in the following documents:

• Main text

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Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis.

Plos One

Theodoratou, Evropi E; Palmer, Tom T; Zgaga, Lina L; Farrington, Susan M SM; McKeigue, Paul P; Din, Farhat V N FV; Tenesa, Albert A; Davey-Smith, George G; Dunlop, Malcolm G MG; Campbell, Harry H

Publication Date: 2012

Variant appearance in text: rs11887534

PubMed Link: 22701574

Variant Present in the following documents:

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Abundant pleiotropy in human complex diseases and traits.

American Journal Of Human Genetics

Sivakumaran, Shanya S; Agakov, Felix F; Theodoratou, Evropi E; Prendergast, James G JG; Zgaga, Lina L; Manolio, Teri T; Rudan, Igor I; McKeigue, Paul P; Wilson, James F JF; Campbell, Harry H

Publication Date: 2011-11-11

Variant appearance in text: rs11887534

PubMed Link: 22077970

Variant Present in the following documents:

• Main text

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Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.

Nucleic Acids Research

Wallerman, Ola O; Motallebipour, Mehdi M; Enroth, Stefan S; Patra, Kalicharan K; Bysani, Madhu Sudhan Reddy MS; Komorowski, Jan J; Wadelius, Claes C

Publication Date: 2009-12

Variant appearance in text: rs11887534

PubMed Link: 19822575

Variant Present in the following documents:

• Main text

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Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

European Journal Of Clinical Pharmacology

Brockmöller, Jürgen J; Tzvetkov, Mladen V MV

Publication Date: 2008-02

Variant appearance in text: rs11887534

PubMed Link: 18224312

Variant Present in the following documents:

• Main text

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