Research description

My research focus on assessing the rare genetic variants in drug response and diseases. The main topics are:

1) Systematically characterize genetic variability of pharmacogenes with a focus on Cytochrome P450 (CYP) genes

2) Interpret the functionality of pharmacogenetic variants with emphasis on the importance of rare genetic variants in drug response and disease

3) Study population pharmacogenomics, particularly for HLA alleles that are associated with severe adverse drug reactions



2017-2021, Karolinska Institutet, PhD in Pharmacogenetics

2015-2017, Karolinska Institutet, Master of Medical Science in Toxicology

2008-2012, China Pharmaceutical University, Bachelor of Science in Pharmacy


Academic honours, awards and prizes


Siamoglou S, Koromina M, Hishinuma E, Yamazaki S, Tsermpini E, Kordou Z, Fukunaga K, Chantratita W, Zhou Y, Lauschke VM, Mushiroda T, Hiratsuka M, Patrinos GP. Identification and functional validation of novel pharmacogenomic variants using a next-generation sequencing-based approach for clinical pharmacogenomics.Pharmacological Research. 2022 Feb;176:106087.

Yang M, Johnsson P, Bräutigam L, Yang XR, Thrane K, Gao J, Tobin NP, Zhou Y, et al. Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma. Genetics in Medicine. 2022 Jan;24(1):157-169.

Genvigir FD Vecchia, Hernandez CD, Hirata TDC, Zhou Y, Lauschke VM, Hirata MH, Hirata RDC. Pharmacogenomics of Antihypertensive Drugs in Brazil: recent progress and clinical implications. Endocrine, Metabolic & Immune Disorders Drug Targets. 2021 Dec 22.

Zhou Y, Lauschke VM. Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health. Human Genetics. 2021 Oct 15.

Zhou Y, Arribas G. H., Turku A., Lauschke VM et al. Rare genetic variability in human drugtarget genes modulates drug response and can guide precision medicine. Science Advances. 2021 Sep 3;7(36)

Dagli-Hernandez C., Zhou Y, Lauschke VM, et al. Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts. Pharmacological Reports. 2021.

Hirata T. D. C., Dagli-Hernandez, C., Genvigir, F. D. V., Lauschke VM, Zhou Y, et al. Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients. Molecular Diagnosis & Therapy. 2021.

Zhou Y, Lauschke VM. Computational tools to assess the functional consequences of rare and noncoding pharmacogenetic variability. Clinical Pharmacology & Therapeutics. 2021;17.

Russell LE, Zhou Y, Almousa AA, Sodhi JK, Nwabufo CK, Lauschke VM. Pharmacogenomics in the era of next generation sequencing - from byte to bedside. Drug Metabolism Reviews. 2021;17:1-26.

Pernaute-Lau L, Adegnika AA, Zhou Y, Zinsou JF, et al. Pharmacogene sequencing of a Gabonese population with severe Plasmodium falciparum malaria reveals multiple novel variants with putative relevance for antimalarial treatment. Antimicrobial Agents and Chemotherapy. 2021;19:AAC.00275-21.

Wang T, Zhou Y, Cao G. Pharmacogenetics of tamoxifen therapy in Asian populations: from genetic polymorphism to clinical outcomes. European Journal of Clinical Pharmacology. 2021; 1-17

Xiao Q, Zhou Y, Lauschke VM. Impact of variants in ATP-binding cassette transporters on breast cancer treatment. Pharmacogenomics. 2021; 21 (18), 1299-1310

Zhou Y, Hernandez C D, Lauschke VM. Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier. British Journal of Cancer. 2020

Zhou Y, Krebs K, Milani L, Lauschke VM. Global frequencies of clinically important HLA alleles and their implications for the cost‐effectiveness of preemptive pharmacogenetic testing. Clinical Pharmacology & Therapeutics. 2020

Xiao Q, Zhou Y, Winter S, Büttner F, Schaeffeler E, Schwab M, et al. Germline variant burden in multidrug resistance transporters is a therapy‐specific predictor of survival in breast cancer patients. International Journal of Cancer. 2020;146 (9), 2475-2487

Xiao Q, Zhou Y, Lauschke VM. Ethnogeographic and inter-individual variability of human ABC transporters. Human Genetics. 2020;1–24.

Russell LE, Zhou Y, Lauschke VM, Kim RB. In Vitro Functional Characterization and in Silico Prediction of Rare Genetic Variation in the Bile Acid and Drug Transporter, Na+-Taurocholate Cotransporting Polypeptide (NTCP, SLC10A1). Molecular Pharmaceutics. 2020 Feb 26;17(4):1170–81.

Zhou Y, Lauschke VM. Pharmacogenomic network analysis of the gene-drug interaction landscape underlying drug disposition. Computational and Structural Biotechnology Journal. 2020;18:52–8.

Lauschke VM, Nordling Å, Zhou Y, Fontalva S, Barragan I, Ingelman-Sundberg M. CYP3A5 is unlikely to mediate anticancer drug resistance in hepatocellular carcinoma. Pharmacogenomics. 2019;20(15):1085–92.

Zhou Y, Mkrtchian S, Kumondai M, Hiratsuka M, Lauschke VM. An optimized prediction framework to assess the functional impact of pharmacogenetic variants. The pharmacogenomics journal. 2018 Sep 12;28(Suppl 3):1.

Lauschke VM, Zhou Y, Ingelman-Sundberg M. Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity. Pharmacology & therapeutics. 2019 May 1;197:122–52.

Zhou Y, Shen J, Lauschke VM. Comprehensive evaluation of current organotypic and microphysiological liver models for prediction of drug-induced liver injury. Frontiers in pharmacology. 2019;10:1093.

Zhou Y, Fujikura K, Mkrtchian S, Lauschke VM. Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data. Frontiers in pharmacology. 2018 Dec 4;9:248.

Ingelman-Sundberg M, Mkrtchian S, Zhou Y, Lauschke VM. Integrating rare genetic variants into pharmacogenetic drug response predictions. Human Genomics. 2018 Dec 1;12(1):26.

Zhou Y, Mägi R, Milani L, Lauschke VM. Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk. Journal of lipid research. 2018 Oct;59(10):1987–2000.

Zhou Y, Lauschke VM. Comprehensive overview of the pharmacogenetic diversity in Ashkenazi Jews. Journal of Medical Genetics. 2018 Sep 1;55(9):617–27.

Vorrink SU, Zhou Y, Ingelman-Sundberg M, Lauschke VM. Prediction of drug-induced hepatotoxicity using long-term stable primary hepatic 3D spheroid cultures in chemically defined conditions. Toxicological Sciences. 2018;163(2):655–65.

Zhou Y, Ingelman-Sundberg M, Lauschke VM. Worldwide distribution of cytochrome P450 alleles: a meta‐analysis of population‐scale sequencing projects. Clinical Pharmacology & Therapeutics. 2017;102(4):688–700.

Zhou Y, Zhou P, Xin Y, Wang J, Zhu Z, Hu J, et al. Trend of telomerase activity change during human iPSC self-renewal and differentiation revealed by a quartz crystal microbalance based assay. Scientific reports. 2014;4:6978.

Lv B, Zhou Y, Cha W, Wu Y, Hu J, Li L, et al. Molecular composition, grafting density and film area affect the swelling-induced Au–S bond breakage. ACS applied materials & interfaces. 2014;6(11):8313–9.