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Anubha Mahajan

M.Sc., Ph.D.

Senior Team Leader in Human Genetics


For the past decade, my research has primarily focused on the genetic analysis of complex traits, with particular emphasis on the multifactorial form of type 2 diabetes. I have led/co-led analysis of high-throughput genetic studies as part of several large international consortia, including DIAGRAM, GoT2D, T2D-GENES, ExTexT2D, DIAMANTE etc. (employing GWAS, exome-chip, exomes, and genomes), bringing together individual data-sets into progressively larger meta-analyses (involving diverse ethnicities) enabling a more comprehensive exploration of the genetic architecture of type 2 diabetes, defining the likely universe of disease-causing variation.

Over last few years, I have shifted my research focus beyond discovery, using human genetics to advance the mechanistic understanding of type 2 diabetes. By integrating the expansive sample numbers generated for genetics with diverse sources of genomic (particularly via access to T2D-relevant tissues), physiological, clinical, and microbiome information, I seek to gain key insights into the molecular and physiological basis of type 2 diabetes predisposition.


(*equal contribution; #corresponding author)

  1. Sanna, S.*, van Zuydam, N.R.*, Mahajan, A.*, et al. Causal relationships among the gut microbiome, short-chain fatty acids and metabolic diseases. Nat Genet (2019). [In press]
  2. Flannick, J.A., Mercader, J.M.M.*, Fuchsberger, C.*, Udler, M.S.*, Mahajan, A.* et al. Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries. Nature, 371450 (2019). [Accepted]
  3. Mahajan, A.# et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet 50, 1505-1513 (2018).
  4. Mahajan, A.#et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet 50, 559-571 (2018).
  5. Liu, D.J.*, Peloso, G.M.*, Yu, H.*, Butterworth, A.S.*, Wang, X.*, Mahajan, A.*, Saleheen, D.*, Emdin, C.* et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet 49, 1758-1766 (2017).
  6. Mahajan, A. et al. Trans-ethnic fine mapping highlights kidney-function genes linked to salt sensitivity. Am J Hum Genet 99, 636-646 (2016).
  7. Fuchsberger, C.*, Flannick, J.*, Teslovich, T.M.*, Mahajan, A.*, Agarwala, V.*, Gaulton, K.J.* et al. The genetic architecture of type 2 diabetes. Nature 536, 41-47 (2016).
  8. Mahajan, A.*, Sim, X.*, Ng, H.J.* et al. Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet 11, e1004876 (2015).
  9. Mahajan, A.*, Go, M.J.*, Zhang, W.*, Below, J.E.*, Gaulton, K.J.* et al. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet 46, 234-244 (2014).
  10. Morris, A.P., Voight, B.F., Teslovich, T.M., Ferreira, T., Segre, A.V., Steinthorsdottir, V., Strawbridge, R.J., Khan, H., Grallert, H., Mahajan, A. et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 44, 981-990 (2012).