Xikun Han

I study genetics. My research work is embedded in the field of genomics, wherein I use large-scale biobanks and multi-omics data to study the genetic underpinnings of complex diseases. My investigations focus on the following questions: 1) What are the causal variants and genes underlying common diseases? 2) How can genetic data help us prioritize drug targets? 3) How can we customize genetic information to optimize preventive and treatment strategies in disease risk prediction and stratification? To answer these questions, I will integrate population genetic data and data generated from novel technologies to characterize causal variants and gene regulatory networks in relevant cell types and tissues. I will use a systems biology approach to analyze multi-modal data (e.g. biobanks, multi-omics, WES/WGS, single cell and spatial genomics, genetic screening, deep learning, etc.). I will develop new statistical and computational approaches for integrating multi-modal genomic data to reveal disease biology.

I’m a postdoc at MIT, working with Prof. Manolis Kellis. I obtained my Ph.D. in statistical genetics from University of Queensland and QIMR, under the supervision of Prof. Stuart MacGregor.


Publications

Available publication data link

« †joint first author, *corresponding author »

  • Han X†*, et al. Glaucoma GWAS and putative druggble targets. Nature Genetics. 2023. (In press)

  • Han X*, et al. Genetics and metabolomics in age-related macular degeneration. Cell Reports Medicine. 2023. (In press)

  • Craig JE†, Han X†*, Qassim A†, Hassall M, …, Wiggs JL, Hewitt AW, MacGregor S. Multitrait analysis of glaucoma identifies new loci and enables effective polygenic risk score prediction of disease susceptibility, progression. Nature Genetics. 2020; 52(2):160-166. PDF

  • Han X*, Steven K, Qassim A, Marshall HN, Bean C, Tremeer M, An J, Siggs OM, Gharahkhani P, Craig JE, Hewitt AW, Trzaskowski M, MacGregor S. Automated AI labelling of optic nerve head enables new insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA. American Journal of Human Genetics. 2021; 108(7):1204-1216. PDF

  • Han X*, Hewitt AW, MacGregor S. Predicting the future of genetic risk profiling of glaucoma: a narrative review. JAMA ophthalmology. 2021;139(2):224-231. PDF

  • Han X†, Souzeau E†, Ong JS, An J, Siggs OM, Burdon KP, …, Hewitt AW, Gharahkhani P, Craig JE, MacGregor S. Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies. JAMA Ophthalmology. 2019; 137(1):28-35. PDF

  • Han X*, Gharahkhani P, Mitchell P, Liew G, Hewitt AW, MacGregor S. Meta-analysis of genome-wide association studies identify novel genes for age-related macular degeneration. Journal of Human Genetics. 2020; 65(8):657-665. PDF

  • Han X*, Ong JS, Hewitt AW, Gharahkhani P, MacGregor S. The effects of eight serum lipid biomarkers on age-related macular degeneration risk: a Mendelian randomization study. International journal of epidemiology. 2021; 50(1):325-336. PDF

  • Han X*, Liang L*. metabolomicsR: a streamlined workflow to analyze metabolomic data in R. Bioinformatics Advances. 2022; 2(1):vbac067.. PDF


« co-author »

  • Daniszewski M, Senabouth A, Liang LH, Han X, Lidgerwood GE, Hernández D, …, Mackey DA, Craig JE, MacGregor S, Powell JE, Pébay A, Hewitt AW. Retinal ganglion cell-specific genetic regulation in primary open angle glaucoma. Cell Genomics 2022, 2, 100142. PDF

  • Senabouth A, Daniszewski M, Lidgerwood GE, Liang HH, Hernández D, Mirzaei M, Keenan SN, Zhang R, Han X, Neavin D, Rooney L,… , Mackey DA, Bylsma G, Verma N, MacGregor S, Watt MJ, Guymer RH, Powell JE, Hewitt AW, Pébay A. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration. Nature Communications. 2022 26;13(1):4233.PDF

  • Gharahkhani P., Jorgenson E., Hysi P., Khawaja A.P., Pendergrass S., Han X, Ong J.S., Hewitt A. W., …, Mackey D.A., Kubo M., Aung T., Craig J. E., MacGregor S., Wiggs J. L.. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nature Communications. 2021;12(1):1258. PDF

  • Ong JS, An J, Han X, Law MH, Nandakumar P, …, Gharahkhani P, Kendall BJ, MacGregor S. Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett’s oesophagus and provides insights into clinical heterogeneity in reflux diagnosis. Gut. 2021; gutjnl-2020-323906. PDF

  • MacGregor S, Ong JS, An J, Han X, Zhou T, Siggs OM, …, Mackey DA, Gharahkhani P, Craig JE, Hewitt AW. Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nature Genetics. 2018; 50(8):1067-1071. PDF


Contact

Email: Xikun Han