Anubha Mahajan

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).