publications

​​Link to all Dr. Speliotes’ publications in PubMed

List of selected publications:

2022

Handelman, S. K., Puentes, Y. M., Kuppa, A., Chen, Y., Du, X., Feitosa, M. F., Palmer, N. D., & Speliotes, E. K. (2022). Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids. Hepatology communications, 6(11), 3120–3131. doi: 10.1002/hep4.2066.  PMID: 36098472; PMCID: PMC9592792

Cushing, K. C., Du, X., Chen, Y., Stetson, L. C., Kuppa, A., Chen, V. L., Kahlenberg, J. M., Gudjonsson, J. E., Vanderwerff, B., Higgins, P. D. R., & Speliotes, E. K. (2022). Inflammatory Bowel Disease Risk Variants Are Associated with an Increased Risk of Skin Cancer. Inflammatory bowel diseases, 28(11), 1667–1676. doi: 10.1093/ibd/izab336. PMID: 35018451

Venugopal, A., Koi, M., Choi, C., Kim, H. R., Speliotes, E. K., & Carethers, J. M. (2022). ALDH1A1 Expression Is Enriched in Early-Onset Colorectal Cancers. Gastroenterology, 163(6), 1679–1681.e1. doi: 10.1053/j.gastro.2022.08.028. PMID: 35985512

De Roo, A. C., Chen, Y., Du, X., Handelman, S., Byrnes, M., Regenbogen, S. E., Speliotes, E. K., & Maguire, L. H. (2022). Polygenic Risk Prediction in Diverticulitis. Annals of surgery, 10.1097/SLA.0000000000005623. Advance online publication. doi: 10.1097/SLA.0000000000005623. PMID: 35876359

Chen, V. L., Burkholder, D. A., Moran, I. J., DiBattista, J. V., Miller, M. J., Chen, Y., Du, X., Oliveri, A., Cushing, K. C., Lok, A. S., & Speliotes, E. K. (2022). Hepatic decompensation is accelerated in patients with cirrhosis and alpha-1 antitrypsin Pi∗MZ genotype. JHEP reports : innovation in hepatology, 4(6), 100483. doi: 10.1016/j.jhepr.2022.100483. PMID: 35571533; PMCID: PMC9097455

Speliotes, E. K., & George, J. (2022). Metabolic and genetic contributions to NAFLD: Really distinct and homogeneous?. Journal of hepatology, 76(3), 498–500. doi: 10.1016/j.jhep.2021.12.024. PMID: 34979132

2021

Pant A, Chen Y, Kuppa A, Du X, Halligan BD, Speliotes EK. Perturbation of TM6SF2 Expression Alters Lipid Metabolism in a Human Liver Cell Line. Int J Mol Sci. 2021 Sep 9;22(18):9758.doi: 10.3390/ijms22189758. PMID: 34575933.

Palmer ND, Kahali B, Kuppa A, …, Speliotes EK. Allele Specific Variation at APOE Increases Non-alcoholic Fatty Liver Disease and Obesity but Decreases Risk of Alzheimer’s Disease and Myocardial Infarction. Hum Mol Genet. 2021 Jul 9;30(15):1443-1456. doi: 10.1093/hmg/ddab096. PMID: 33856023.

Graff M, Justice AE, Young KL, …, Speliotes EK …, North KE. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. Am J Hum Genet. 2021 Apr 1108(4):564-582. doi: 10.1016/j.ajhg.2021.02.011. PMID: 33713608;.PMCID: PMC8059339

Chen VL, Du X, Chen Y, …, Speliotes EK. Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology. Nat Commun. 2021 Feb 5;12(1):816. doi: 10.1038/s41467-020-20870-1. PMID: 33547301; PMCID: PMC7865025.

Palmer MR, Kim DS, Crosslin DR, …, Speliotes E, …, Jarvik GP. Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. Genet Epidemiol. 2021 Feb;45(1):4-15. doi: 10.1002/gepi.22360. Epub 2020 Sep 22. PMID: 32964493; PMCID: PMC7891640.

Kahali B, Chen Y, Feitosa MF, …, Speliotes EK. A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction. J Clin Endocrinol Metab. 2021 Jan 23;106(2):372-387. doi: 10.1210/clinem/dgaa855. PMID: 33231259; PMCID: PMC7823249.

Teo K, Abeysekera KWM, Adams L, …, Speliotes EK, …, Mann JP. rs641738C>T near MBOAT7 is associated with liver fat, ALT and fibrosis in NAFLD: A meta-analysis. J Hepatol. 2021 Jan;74(1):20-30. doi: 10.1016/j.jhep.2020.08.027. Epub 2020 Aug 31. PMID: 32882372; PMCID: PMC7755037. 

2020

Chen VL, Chen Y, Du X, …, Speliotes EK. Genetic variants that associate with cirrhosis have pleiotropic effects on human traits. Liver Int. 2020 Feb;40(2):405-415. doi: 10.1111/liv.14321. Epub 2020 Jan 1. PMID: 31815349; PMCID: PMC7395656.

2019

Chen VL, Wright AP, Halligan B, …, Speliotes EK. Body Composition and Genetic Lipodystrophy Risk Score Associate With Nonalcoholic Fatty Liver Disease and Liver Fibrosis. Hepatol Commun. 2019 Jun 18;3(8):1073-1084. doi: 10.1002/hep4.1391. PMID: 31388628; PMCID: PMC6671828.

Barata L, Feitosa MF, Bielak LF, …, Speliotes EK, Province MA. Insulin Resistance Exacerbates Genetic Predisposition to Nonalcoholic Fatty Liver Disease in Individuals Without Diabetes. Hepatol Commun. 2019 Apr 18;3(7):894-907. doi: 10.1002/hep4.1353. PMID: 31334442; PMCID: PMC6601321.

Zhou X, Li Y, Zhang X, …, Speliotes EK, Ji L. Independent markers of nonalcoholic fatty liver disease in a gentrifying population-based Chinese cohort. Diabetes Metab Res Rev. 2019 Jul;35(5):e3156. doi: 10.1002/dmrr.3156. Epub 2019 Apr 17. PMID: 30892820; PMCID: PMC6606362.

Ma J, Nano J, Ding J, …, Speliotes EK, …, Levy D. A Peripheral Blood DNA Methylation Signature of Hepatic Fat Reveals a Potential Causal Pathway for Nonalcoholic Fatty Liver Disease. Diabetes. 2019 May;68(5):1073-1083. doi: 10.2337/DB18-1193. Epub 2019 Apr 1. PMID: 30936141; PMCID: PMC6477898.

Justice AE, Karaderi T, Highland HM, …, Speliotes EK, …, MAGIC Investigators. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nat Genet. 2019 Mar;51(3):452-469. doi: 10.1038/s41588-018-0334-2. Epub 2019 Feb 18. PMID: 30778226; PMCID: PMC6560635.

2018

Ma Y, Belyaeva OV, Brown PM, …, Speliotes EK, …, Rotman Y. 17-Beta Hydroxysteroid Dehydrogenase 13 Is a Hepatic Retinol Dehydrogenase Associated With Histological Features of Nonalcoholic Fatty Liver Disease. Hepatology. 2019 Apr;69(4):1504-1519. doi: 10.1002/hep.30350. Epub 2019 Mar 5. PMID: 30415504; PMCID: PMC6438737.

Maguire LH, Handelman SK, Du X, …, Speliotes EK. Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. Nat Genet. 2018 Oct;50(10):1359-1365. doi: 10.1038/s41588-018-0203-z. Epub 2018 Sep 3. PMID: 30177863; PMCID: PMC6168378.

Speliotes EK, Balakrishnan M, Friedman LS, Corey KE. Treatment of Dyslipidemia in Common Liver Diseases. Clin Gastroenterol Hepatol. 2018 Aug;16(8):1189-1196. doi: 10.1016/j.cgh.2018.04.023. Epub 2018 Apr 21. PMID: 29684459; PMCID: PMC6558967.

2017

Kim DS, Jackson AU, Li YK, …, Speliotes EK. Novel association of TM6SF2 rs58542926 genotype with increased serum tyrosine levels and decreased apoB-100 particles in Finns. J Lipid Res. 2017 Jul;58(7):1471-1481. doi: 10.1194/jlr.P076034. Epub 2017 May 24. PMID: 28539357; PMCID: PMC5496043.

2015

Locke AE, Kahali B, Berndt SI, …, Speliotes EK. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177. PMID: 25673413; PMCID: PMC4382211.

Shungin D, Winkler TW, Croteau-Chonka DC, …, Speliotes EK, …, Mohlke KL. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 2015 Feb 12;518(7538):187-196. doi: 10.1038/nature14132. PMID: 25673412; PMCID: PMC4338562.

Pers TH, Karjalainen JM, Chan Y, …, Speliotes EK; …, Franke L. Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun. 2015 Jan 19;6:5890. doi: 10.1038/ncomms6890. PMID: 25597830; PMCID: PMC4420238.

Kahali B, Liu YL, Daly AK, …, Speliotes EK. TM6SF2: catch-22 in the fight against nonalcoholic fatty liver disease and cardiovascular disease? Gastroenterology. 2015 Apr;148(4):679-84. doi: 10.1053/j.gastro.2015.01.038. Epub 2015 Jan 29. PMID: 25639710.

2014

Yaghootkar H, Scott RA, White CC, Zhang W, Speliotes E, …, Semple RK, Frayling TM. Genetic evidence for a normal-weight “metabolically obese” phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes. Diabetes. 2014 Dec;63(12):4369-77. doi: 10.2337/db14-0318. Epub 2014 Jul 21. PMID: 25048195; PMCID: PMC4392920.

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, …, Speliotes E, …, Kathiresan S. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014 Jul 3;371(1):22-31. doi: 10.1056/NEJMoa1307095. Epub 2014 Jun 18. PMID: 24941081; PMCID: PMC4180269.

Hellwege JN, Palmer ND, Raffield LM, …, Speliotes EK, … Bowden DW. Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk. Genet Epidemiol. 2014 May;38(4):345-52. doi: 10.1002/gepi.21801. Epub 2014 Apr 9. PMID: 24719370; PMCID: PMC4281959.

2013

Hernaez R, McLean J, Lazo M, …, Speliotes EK. Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey. Clin Gastroenterol Hepatol. 2013 Sep;11(9):1183-1190.e2. doi: 10.1016/j.cgh.2013.02.011. Epub 2013 Feb 13. PMID: 23416328; PMCID: PMC4197011.

Liu CT, Monda KL, Taylor KC, …, Speliotes EK, …, Fox CS. Genome-wide association of body fat distribution in African ancestry populations suggests new loci. PLoS Genet. 2013;9(8):e1003681. doi: 10.1371/journal.pgen.1003681. Epub 2013 Aug 15. PMID: 23966867; PMCID: PMC3744443.

Palmer ND, Musani SK, Yerges-Armstrong LM, …, Speliotes EK. Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent. Hepatology. 2013 Sep;58(3):966-75. doi: 10.1002/hep.26440. Epub 2013 Jul 16. PMID: 23564467; PMCID: PMC3782998.

Randall JC, Winkler TW, Kutalik Z, …, Speliotes EK, …, Heid IM. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet. 2013 Jun;9(6):e1003500. doi: 10.1371/journal.pgen.1003500. Epub 2013 Jun 6. PMID: 23754948; PMCID: PMC3674993.

Berndt SI, Gustafsson S, Mägi R, …, Speliotes EK, …, Ingelsson E. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013 May;45(5):501-12. doi: 10.1038/ng.2606. Epub 2013 Apr 7. PMID: 23563607; PMCID: PMC3973018.

Monda KL, Chen GK, Taylor KC, …, Speliotes EK …, Haiman CA. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun;45(6):690-6. doi: 10.1038/ng.2608. Epub 2013 Apr 14. PMID: 23583978; PMCID: PMC3694490.

2011

Speliotes EK, Yerges-Armstrong LM, Wu J, …, Borecki IB; GOLD Consortium. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet. 2011 Mar;7(3):e1001324. doi: 10.1371/journal.pgen.1001324. Epub 2011 Mar 10. PMID: 21423719; PMCID: PMC3053321.