Xiaohui Li, MD, MSc

Xiaohui Li, MD, MSc

Investigator, The Lundquist Institute
Associate Professor of Pediatrics, David Geffen School of Medicine at UCLA


Research Description

Dr. Li provides statistical support for a variety of genetic approaches and data, including linkage, genome-wide association, sequencing and Omics studies.

Her research is focused on two major areas: ophthalmologic genetics and pharmacogenetics. Dr. Li leads comprehensive genetic analysis designs and methodologies for several eye-related diseases, such as keratoconus, diabetic retinopathy, age-related macular degeneration, myopia, retinal vasculature, and retinopathy of prematurity. For the pharmacogenetics area, Dr. Li serves as the lead genetic analyst of various treatments response to different disorders/traits, such as lipids, blood pressure, electrocardiogram (ECG) traits, and cardiovascular events.
Theme Groups


  • MS, 2004, Biostatistics University of California, Los Angeles
  • MD, 1995, Medicine, Beijing Medical University, China

Recent and/or Significant Publications

Li X, Bykhovskaya Y, Haritunians T ... Rabinowitz YS. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum Mol Genet. 2012;21(2):421-429.PubMed ID: 21979947, PubMed Central ID: 3276283;
Wei W-Q, Li X, Feng Q … Denny JC. LPA gene variants are associated with residual cardiovascular risk in patients receiving statins. Circulation. 2018;138(17):1839-1849. PubMed ID: 29703846; PubMed Central ID: 6202211;
Hardcastle AJ, Liskova P, Bykhovskaya Y … Li X … Hysi PG. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Commun Biol. 2021;4(1):266. PubMed ID: 33649486; PubMed Central ID: 7921564;
Postmus I, Trompet S… Li X … Caulfield MJ. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nat Commun. 2014;28(5):5068. PubMed ID: 25350695; PubMed Central ID: 4220464;
R. de las Fuentes L, Sung YJ, Sitlani CM ...Li X … Whitsel EA. Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry. Pharmacogenomics J. 2020;20:482–493. PubMed ID: 31806883; PubMed Central ID: 7260079;