Xiaoling Zhang, MD, Ph.D.

Xiaoling Zhang

Xiaoling Zhang, MD, Ph.D.
Associate Professor of Medicine, Biostatistics, and Bioinformatics
Boston University School of Medicine, Section of Biomedical Genetics
Department of Biostatistics, Boston University School of Public Health
Bioinformatics Program, Computing & Data Sciences, Boston University

72 East Concord Street E223, Boston, MA 02118
Phone: 617-358-3580
Email: zhangxl@bu.edu
Zhang Lab website: https://sites.bu.edu/zhanglab/

2010-2015 NIH Research Fellow, Cardiovascular Epidemiology and Human Genomics Branch
the NHLBI Framingham Heart Study
2009 PhD Boston University (Bioinformatics)
2004 M.S. The State University of New York at Buffalo (Computer Science)

Research Interests

My primary research interests focus on: 1) develop methods for analyzing large-scale genetics and genomics data including microarray, genotype and next-generation sequencing data; 2) discover common, low-frequency and rare variants associated with complex diseases and their risk factors; 3) identify and prioritize putative causal genetic variants by integrative genomics study that involves combining biological information from a wide-range of data resources with eQTL analysis, pathway analysis and regulatory network analysis; and 4) translate the above computational findings to the molecular mechanisms underlying human genetic disorders by conducting experimental validation through collaborations.

Selected Publications (*Co-first authorship):

  1. Malhotra, A.C. Mauer, X. Guo, J. Yao, X. Zhang, F. Wunderer, A.V. Smith, Q. Wong, S. Pechlivanis, S. Hwang,  J. Wang, …, D.B. Bloch#, W. S. Post#,, and C.J. O’Donnell#,, for the CHARGE Extracoronary Calcium Working Group. HDAC9 is implicated in Atherosclerotic Aortic Calcification and Affects Vascular Smooth Muscle Cell Phenotype. Nature Genetics (accepted)
  2. Guo C*, Zhao Z.,*, Chen D., He S., Sun N., Li Z., Liu J., Zhang D., Zhang J., Li J., Zhang M., Zhang X#, Fan Z#. Detection of clinically relevant genetic variants in Chinese patients with nanophthalmos by trio-based whole-genome sequencing study. (#Co-corresponding authors). Investigative Ophthalmology & Visual Science (accepted)
  3. Ma Y, Jun GR, Zhang X, Chung J, Naj AC, Chen Y, Bellenguez C, Hamilton-Nelson K, Martin ER, Kunkle BW, Bis JC, Debette S, DeStefano AL, Fornage M, Nicolas G, van Duijn C, Bennett DA, De Jager PL, Mayeux R, Haines JL, Pericak-Vance MA, Seshadri S, Lambert JC, Schellenberg GD, Lunetta KL, Farrer LA. Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype. JAMA Neurol. 2019 Jun 10. PMID: 31180460.
  4. Ma Y, Jun GR, Chung J, Zhang X, Kunkle BW, Naj AC, White CC, Bennett DA, De Jager PL, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, Farrer LA, Lunetta KL. CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease. Aging Cell. 2019 May 29; e12964. PMID: 31144443.
  5. Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J, Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer’s disease. Alzheimers Dement. 2019 Mar; 15(3):441-452.PMID: 30503768
  6. Cox JW, Patel D, Chung J, Zhu C, Lent S, Fisher V, Pitsillides A, Farrer L, Zhang X. An efficient analytic approach in genome-wide identification of methylation quantitative trait loci response to fenofibrate treatment. BMC Proc. 2018; 12(Suppl 9):44.PMID: 30275893.
  7. Chung J, Zhang X, Allen M, Wang X, Ma Y, Beecham G, Montine TJ, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Lunetta KL, Mez J, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg G, Jun GR, Farrer LA. Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer’s disease. Alzheimers Res Ther. 2018 02 20; 10(1):22. PMID: 29458411.
  8. Warren CR, O’Sullivan JF, Friesen M, Becker CE, Zhang X, Liu P, Wakabayashi Y, Morningstar JE, Shi X, Choi J, Xia F, Peters DT, Florido MH, Tsankov AM, Duberow E, Comisar L, Shay J, Jiang X, Meissner A, Musunuru K, Kathiresan S, Daheron L, Zhu J, Gerszten RE, Deo RC, Vasan RS, O’Donnell CJ, Cowan CA. Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease. Cell Stem Cell. 2017 Apr 06; 20(4):547-557.e7. PMID: 28388431;
  9. Joehanes R*, Zhang X*, Huan T, Yao C, Ying SX, Nguyen QT, Demirkale CY, Feolo ML, Sharopova NR, Sturcke A, Schäffer AA, Heard-Costa N, Chen H, Liu PC, Wang R, Woodhouse KA, Tanriverdi K, Freedman JE, Raghavachari N, Dupuis J, Johnson AD, O’Donnell CJ, Levy D, Munson PJ. Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. Genome Biol. 2017 Jan 25; 18(1):16. PMID: 28122634; DOI: 1186/s13059-016-1142-6;.
  10. Zhang X, Joehanes R, Chen BH, Huan T, Ying S, Munson PJ, Johnson AD, Levy D, O’Donnell CJ. Identification of common genetic variants controlling transcript isoform variation in human whole blood. Nat Genet. 2015 Apr; 47(4):345-52. PMID: 25685889.
  11. Zhang X, Gierman HJ, Levy D, Plump A, Dobrin R, Goring HH, Curran JE, Johnson MP, Blangero J, Kim SK, O’Donnell CJ, Emilsson V, Johnson AD. Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. BMC Genomics. 2014 Jun 27; 15:532. PMID: 24973796.
  12. Zhang X, Johnson AD, Hendricks AE, Hwang SJ, Tanriverdi K, Ganesh SK, Smith NL, Peyser PA, Freedman JE, O’Donnell CJ. Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes. Hum Mol Genet. 2014 Feb 1; 23(3):782-95. PMID: 24057673; PMCID: PMC3900869; DOI: 1093/hmg/ddt461;.
  13. Zhang X, Lenburg ME, Spira A. Comparison of nasal epithelial smoking-induced gene expression on Affymetrix Exon 1.0 and Gene 1.0 ST arrays. ScientificWorldJournal. 2013; 2013:951416.View Related Profiles. PMID: 23476154; PMCID: PMC3588192; DOI: 1155/2013/951416;.
  14. Zhang X, Sebastiani P, Liu G, Schembri F, Zhang X, Dumas YM, Langer EM, Alekseyev Y, O’Connor GT, Brooks DR, Lenburg ME, Spira A. Similarities and differences between smoking-related gene expression in nasal and bronchial epithelium. Physiol Genomics. 2010 Mar 3; 41(1):1-8. PMID: 19952278; PMCID: PMC2841495; DOI: 1152/physiolgenomics.00167.2009;.
  15. Zhang X, Liu G, Lenburg ME, Spira A. Comparison of smoking-induced gene expression on Affymetrix Exon and 3′-based expression array Genome Inform. 2007; 18:247-57. PMID: 18546492.