Tae-Hwi L. Schwantes-An, PhD

Key Publications

Hwang HM, Yamashita S, Matsumoto Y, Ito M, Edwards A, Sasaki J, Dutta DJ, Mohammad S, Yamashita C, Wetherill L, Schwantes-An TH, Abreu M, Mahnke AH, Mattson SN, Foroud T, Miranda RC, Chambers C, Torii M, Hashimoto-Torii K. Reduction of APOE accounts for neurobehavioral deficits in fetal alcohol spectrum disorders. Mol Psychiatry. 2024 May 11. doi: 10.1038/s41380-024-02586-6. Epub ahead of print. PMID: 38734844.

Schwantes-An TH, Whitfield JB, Aithal GP, Atkinson SR, Bataller R, Botwin G, Chalasani NP, Cordell HJ, Daly AK, Darlay R, Day CP, Eyer F, Foroud T, Gawrieh S, Gleeson D, Goldman D, Haber PS, Jacquet JM, Lammert CS, Liang T, Liangpunsakul S, Masson S, Mathurin P, Moirand R, McQuillin A, Moreno C, Morgan MY, Mueller S, Müllhaupt B, Nagy LE, Nahon P, Nalpas B, Naveau S, Perney P, Pirmohamed M, Seitz HK, Soyka M, Stickel F, Thompson A, Thursz MR, Trépo E, Morgan TR, Seth D; GenomALC Consortium. A polygenic risk score for alcohol-associated cirrhosis among heavy drinkers with European ancestry. Hepatol Commun. 2024 May 10;8(6):e0431. doi: 10.1097/HC9.0000000000000431. PMID: 38727677; PMCID: PMC11093576.

Tang H, Gupta A, Morrisroe SA, Bao C, Schwantes-An TH, Gupta G, Liang S, Sun Y, Chu A, Luo A, Ramamoorthi Elangovan V, Sangam S, Shi Y, Naidu SR, Jheng JR, Ciftci-Yilmaz S, Warfel NA, Hecker L, Mitra S, Coleman AW, Lutz KA, Pauciulo MW, Lai YC, Javaheri A, Dharmakumar R, Wu WH, Flaherty DP, Karnes JH, Breuils-Bonnet S, Boucherat O, Bonnet S, Yuan JX, Jacobson JR, Duarte JD, Nichols WC, Garcia JGN, Desai AA. Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension. Circulation. 2024 May 2. doi: 10.1161/CIRCULATIONAHA.123.065304. Epub ahead of print. PMID: 38695173.

Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis. Nat Genet. 2024 May;56(5):827-837. doi: 10.1038/s41588-024-01720-y. Epub 2024 Apr 17. PMID: 38632349; PMCID: PMC11096111.

Harvey LD, Alotaibi M, Kim HJ, Tai YY, Tang Y, Sun W, El Khoury W, Woodcock CC, Aaraj YA, St Croix CM, Stolz DB, Lee J, Cheng MH, Schwantes-An TH, Desai AA, Pauciulo MW, Nichols WC, Webb A, Lafyatis R, Nouraie M, Wu H, McDonald JG, Chauvet C, Cheng S, Bahar I, Bertero T, Benza RL, Jain M, Chan SY. Genetic regulation and targeted reversal of lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension. bioRxiv [Preprint]. 2024 Mar 1:2024.02.26.582142. doi: 10.1101/2024.02.26.582142. PMID: 38464060; PMCID: PMC10925169.

Tai YY, Yu Q, Tang Y, Sun W, Kelly NJ, Okawa S, Zhao J, Schwantes-An TH, Lacoux C, Torrino S, Al Aaraj Y, El Khoury W, Negi V, Liu M, Corey CG, Belmonte F, Vargas SO, Schwartz B, Bhat B, Chau BN, Karnes JH, Satoh T, Barndt RJ, Wu H, Parikh VN, Wang J, Zhang Y, McNamara D, Li G, Speyer G, Wang B, Shiva S, Kaufman B, Kim S, Gomez D, Mari B, Cho MH, Boueiz A, Pauciulo MW, Southgate L, Trembath RC, Sitbon O, Humbert M, Graf S, Morrell NW, Rhodes CJ, Wilkins MR, Nouraie M, Nichols WC, Desai AA, Bertero T, Chan SY. Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension. Sci Transl Med. 2024 Jan 10;16(729):eadd2029. doi: 10.1126/scitranslmed.add2029. Epub 2024 Jan 10. PMID: 38198571; PMCID: PMC10947529.

Smith SM, Weathers TD, Virdee MS, Schwantes-An TH, Voruganti VS, Mattson SN, Coles CD, Kable JA, Sowell E, Wozniak JR, Wetherill L; Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD) Consortium. Polymorphisms in the choline transporter SLC44A1 are associated with reduced cognitive performance in normotypic but not prenatal alcohol-exposed children. Am J Clin Nutr. 2024 Jan;119(1):117-126. doi: 10.1016/j.ajcnut.2023.10.003. Epub 2023 Nov 27. PMID: 38176775; PMCID: PMC10925855.

Lai D, Kuo SI, Wetherill L, Aliev F, Zhang M, Marco A, Schwantes-An TH, Dick D, Francis MW, Johnson EC, Kamarajan C, Kinreich S, Kuperman S, Meyers J, Nurnberger JI, Liu Y, Edenberg HJ, Porjesz B, Agrawal A, Foroud T, Schuckit M, Plawecki MH, Bucholz KK, McCutcheon VV. Associations between alcohol use disorder polygenic score and remission in participants from high-risk families and the Indiana Biobank. Alcohol Clin Exp Res (Hoboken). 2023 Dec 6. doi: 10.1111/acer.15239. Online ahead of print.

Shihana F, Joglekar MV, Schwantes-An TH, Hardikar AA, Seth D. MicroRNAs Signature Panel Identifies Heavy Drinkers with Alcohol-Associated Cirrhosis from Heavy Drinkers without Liver Injury. Biology (Basel). 2023 Oct 8;12(10):1314. doi: 10.3390/biology12101314. PMID: 37887024; PMCID: PMC10604848.

Norden-Krichmar TM*, Rotroff D*, Schwantes-An TH*, Bataller R, Goldman D, Nagy LE, Liangpunsakul S. Genomic approaches to explore susceptibility and pathogenesis of alcohol use disorder and alcohol-associated liver disease. Hepatology. 2023 Oct 2. doi: 10.1097/HEP.0000000000000617. Epub ahead of print. PMID: 37796138. *co-first authors

Cook L, Verbrugge J, Schwantes-An TH, Schulze J, Beck JC, Naito A, Hall A, Chan AK, Casaceli CJ, Marder K, Nance M, Schwarzschild MA, Simuni T, Wills AM, Alcalay RN; Parkinson’s Foundation and Parkinson's Study Group (PSG). Providing genetic testing and genetic counseling for Parkinson's disease to the community. Genet Med. 2023 Jun 8;25(10):100907. doi: 10.1016/j.gim.2023.100907. Epub ahead of print. PMID: 37302021.

Prohaska CC, Zhang X, Schwantes-An TL, Stearman RS, Hooker S, Kittles RA, Aldred MA, Lutz KA, Pauciulo MW, Nichols WC, Desai AA, Gordeuk VR, Machado RF. RASA3 is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension. Pulm Circ. 2023 Apr 1;13(2):e12227. doi: 10.1002/pul2.12227. PMID: 37101805; PMCID: PMC10124178.

Cosentino J, Behsaz B, Alipanahi B, McCaw ZR, Hill D, Schwantes-An TH, Lai D, Carroll A, Hobbs BD, Cho MH, McLean CY, Hormozdiari F. Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models. Nat Genet. 2023 May;55(5):787-795. doi: 10.1038/s41588-023-01372-4. Epub 2023 Apr 17. PMID: 37069358.

Sangam S, Sun X, Schwantes-An TH, Yegambaram M, Lu Q, Shi Y, Cook T, Fisher A, Frump AL, Coleman A, Sun Y, Liang S, Crawford H, Lutz KA, Maun AD, Pauciulo MW, Karnes JH, Chaudhary KR, Stewart DJ, Langlais PR, Jain M, Alotaibi M, Lahm T, Jin Y, Gu H, Tang H, Nichols WC, Black SM, Desai AA. SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics. Am J Respir Crit Care Med. 2023 Apr 15;207(8):1055-1069. doi: 10.1164/rccm.202203-0450OC. PMID: 36913491; PMCID: PMC10112457.

Liang S, Bao C, Yang Z, Liu S, Sun Y, Cao W, Wang T, Schwantes-An TH, Choy JS, Naidu S, Luo A, Yin W, Black SM, Wang J, Ran P, Desai AA, Tang H. SARS-CoV-2 spike protein induces IL-18-mediated cardiopulmonary inflammation via reduced mitophagy. Signal Transduct Target Ther. 2023 Mar 9;8(1):108. doi: 10.1038/s41392-023-01368-w. PMID: 36894537; PMCID: PMC9998025.

Ma J, Chalasani NP, Schwantes-An L, Björnsson ES. Review article: the safety of anticoagulants and antiplatelet agents in patients with cirrhosis. Aliment Pharmacol Ther. 2023 Jan;57(1):52-71. doi: 10.1111/apt.17297. Epub 2022 Nov 14. PMID: 36373544.

Buchh M, Gillespie PJ, Treat K, Abreu MA, Schwantes-An TL, Helm BM, Fang F, Xuei X, Mantcheva L, Suhrie KR, Graham BH, Conboy E, Vetrini F. Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006254. doi: 10.1101/mcs.a006254. Print 2022 Dec. PMID: 36442996 

Moledina DG, Eadon MT, Calderon F, Yamamoto Y, Shaw M, Perazella MA, Simonov M, Luciano R, Schwantes-An TH, Moeckel G, Kashgarian M, Kuperman M, Obeid W, Cantley LG, Parikh CR, Wilson FP. Development and external validation of a diagnostic model for biopsy-proven acute interstitial nephritis using electronic health record data. Nephrol Dial Transplant. 2022 Oct 19;37(11):2214-2222. doi: 10.1093/ndt/gfab346.PMID: 34865148

Chalasani N, Li YJ, Dellinger A, Navarro V, Bonkovsky H, Fontana RJ, Gu J, Barnhart H, Phillips E, Lammert C, Schwantes-An TH, Nicoletti P, Kleiner DE, Hoofnagle JH; Drug Induced Liver Injury Network. Clinical features, outcomes, and HLA risk factors associated with nitrofurantoin-induced liver injury. J Hepatol. 2022 Sep 21:S0168-8278(22)03117-8. doi: 10.1016/j.jhep.2022.09.010. Online ahead of print.PMID: 36152763

Lai D, Schwantes-An TH, Abreu M, Chan G, Hesselbrock V, Kamarajan C, Liu Y, Meyers JL, Nurnberger JI Jr, Plawecki MH, Wetherill L, Schuckit M, Zhang P, Edenberg HJ, Porjesz B, Agrawal A, Foroud T. Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans. Transl Psychiatry. 2022 Jul 5;12(1):266. doi: 10.1038/s41398-022-02029-2.PMID: 35790736

Whitfield JB, Schwantes-An TH, Darlay R, Aithal GP, Atkinson SR, Bataller R, Botwin G, Chalasani NP, Cordell HJ, Daly AK, Day CP, Eyer F, Foroud T, Gleeson D, Goldman D, Haber PS, Jacquet JM, Liang T, Liangpunsakul S, Masson S, Mathurin P, Moirand R, McQuillin A, Moreno C, Morgan MY, Mueller S, Müllhaupt B, Nagy LE, Nahon P, Nalpas B, Naveau S, Perney P, Pirmohamed M, Seitz HK, Soyka M, Stickel F, Thompson A, Thursz MR, Trépo E, Morgan TR, Seth D; GenomALC Consortium. A genetic risk score and diabetes predict development of alcohol-related cirrhosis in drinkers. J Hepatol. 2022 Feb;76(2):275-282. doi: 10.1016/j.jhep.2021.10.005. Epub 2021 Oct 14.PMID: 34656649

Gaddy A, Schwantes-An TH, Moorthi RN, Phillips CL, Eadon MT, Moe SM. Incidence and Importance of Calcium Deposition in Kidney Biopsy Specimens. Am J Nephrol. 2022;53(7):526-533. doi: 10.1159/000525647. Epub 2022 Jul 22.PMID: 35871513

Schwantes-An TH, Robinson-Cohen C, Liu S, Zheng N, Stedman M, Wetherill L, Edenberg HJ, Vatta M, Foroud TM, Chertow GM, Moe SM. APOL1 G3 Variant Is Associated with Cardiovascular Mortality and Sudden Cardiac Death in Patients Receiving Maintenance Hemodialysis of European Ancestry. Cardiorenal Med. 2022 Oct 28:1-7. doi: 10.1159/000525448. Online ahead of print. PMID: 36310009

Moledina DG, Eadon MT, Calderon F, Yamamoto Y, Shaw M, Perazella MA, Simonov M, Luciano R, Schwantes-An TH, Moeckel G, Kashgarian M, Kuperman M, Obeid W, Cantley LG, Parikh CR, Wilson FP. Development and external validation of a diagnostic model for biopsy-proven acute interstitial nephritis using electronic health record data. Nephrol Dial Transplant. 2022 Oct 19;37(11):2214-2222. doi: 10.1093/ndt/gfab346.PMID: 34865148 

Chalasani N, Li YJ, Dellinger A, Navarro V, Bonkovsky H, Fontana RJ, Gu J, Barnhart H, Phillips E, Lammert C, Schwantes-An TH, Nicoletti P, Kleiner DE, Hoofnagle JH; Drug Induced Liver Injury Network. Clinical features, outcomes, and HLA risk factors associated with nitrofurantoin-induced liver injury. J Hepatol. 2022 Sep 21:S0168-8278(22)03117-8. doi: 10.1016/j.jhep.2022.09.010. Online ahead of print.PMID: 36152763

Laster ML, Rowan B, Chen HC, Schwantes-An TH, Sheng X, Friedman PA, Ikizler TA, Sinshiemer JS, Ix JH, Susztak K, de Boer IH, Kestenbaum B, Hung A, Moe SM, Perwad F, Robinson-Cohen C. Genetic Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3866-e3876. doi: 10.1210/clinem/dgac318.PMID: 35587600

Lai D, Schwantes-An TH, Abreu M, Chan G, Hesselbrock V, Kamarajan C, Liu Y, Meyers JL, Nurnberger JI Jr, Plawecki MH, Wetherill L, Schuckit M, Zhang P, Edenberg HJ, Porjesz B, Agrawal A, Foroud T. Gene-based polygenic risk scores analysis of alcohol use disorder in African Americans. Transl Psychiatry. 2022 Jul 5;12(1):266. doi: 10.1038/s41398-022-02029-2.PMID: 35790736 

Whitfield JB, Schwantes-An TH, Darlay R, Aithal GP, Atkinson SR, Bataller R, Botwin G, Chalasani NP, Cordell HJ, Daly AK, Day CP, Eyer F, Foroud T, Gleeson D, Goldman D, Haber PS, Jacquet JM, Liang T, Liangpunsakul S, Masson S, Mathurin P, Moirand R, McQuillin A, Moreno C, Morgan MY, Mueller S, Müllhaupt B, Nagy LE, Nahon P, Nalpas B, Naveau S, Perney P, Pirmohamed M, Seitz HK, Soyka M, Stickel F, Thompson A, Thursz MR, Trépo E, Morgan TR, Seth D; GenomALC Consortium. A genetic risk score and diabetes predict development of alcohol-related cirrhosis in drinkers. J Hepatol. 2022 Feb;76(2):275-282. doi: 10.1016/j.jhep.2021.10.005. Epub 2021 Oct 14.PMID: 34656649

Gaddy A, Schwantes-An TH, Moorthi RN, Phillips CL, Eadon MT, Moe SM. Incidence and Importance of Calcium Deposition in Kidney Biopsy Specimens. Am J Nephrol. 2022;53(7):526-533. doi: 10.1159/000525647. Epub 2022 Jul 22.PMID: 35871513

Toshner M, Church C, Harbaum L, Rhodes C, Villar Moreschi SS, Liley J, Jones R, Arora A, Batai K, Desai AA, Coghlan JG, Gibbs JSR, Gor D, Gräf S, Harlow L, Hernandez-Sanchez J, Howard LS, Humbert M, Karnes J, Kiely DG, Kittles R, Knightbridge E, Lam B, Lutz KA, Nichols WC, Pauciulo MW, Pepke-Zaba J, Suntharalingam J, Soubrier F, Trembath RC, Schwantes-An TL, Wort SJ, Wilkins MR, Gaine S, Morrell NW, Corris PA; Uniphy Clinical Trials Network. Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension. Eur Respir J. 2022 Mar 10;59(3):2002463. doi: 10.1183/13993003.02463-2020. Print 2022 Mar. PMID: 34588193

Schwantes-An TH, Vatta M, Abreu M, Wetherill L, Edenberg HJ, Foroud TM, Chertow GM, Moe SM. The Contribution of Known Familial Cardiovascular Disease Genes to Sudden Cardiac Death in Patients Undergoing Hemodialysis. Cardiorenal Med. 2021;11(4):174-183. doi: 10.1159/000517123. Epub 2021 Aug 10. PMID: 34433165; PMCID: PMC8393692.

Lai D, Alipanhi B, Fonranillas P, Schwantes-An TH, … Cannon P, Fiske B, Foroud T. “Genomewide Association Studies of LRRK2 Modifiers of Parkinson’s Disease”. Annals of Neurology, 2021 Jul;90(1):76-88. doi: 10.1002/ana.26094. Epub 2021 May 17.

Eadon MT, Lampe S, Baig MM, … Schwantes-An TH, … Moorthi RN, Philips CL, Dagher PC. “Clinical, histopathologic and molecular features of idiopathic and diabetic nodular mesangial sclerosis in humans”. Nephrology Dialysis Transplant, 2021 Feb 4:gfaa331. doi: 10.1093/ndt/gfaa331.

Karnes JH, Schwantes-An TH, Kittles R, Desai AA. Reply to Non and Chang: Challenging the Role of Genetic Ancestry in Explaining Racial/Ethnic Health Disparities. Am J Respir Crit Care Med. 2021 Feb 1;203(3):398-399. doi: 10.1164/rccm.202010-3846LE. PMID: 33125257; PMCID: PMC7874327.