Imperial College London

ProfessorJohnChambers

Faculty of MedicineSchool of Public Health

Professor of Cardiovascular Medicine & Epidemiology
 
 
 
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Contact

 

+44 (0)7866 365 776john.chambers

 
 
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Location

 

172Medical SchoolSt Mary's Campus

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Summary

 

Summary

 

My research focuses on the investigation of genetic and environmental mechanisms underlying obesity, diabetes, cardiovascular disease and related phenotypic disturbances in Indian Asians. In the last ten years I have worked closely with Professor JS Kooner (NHLI), Professor Paul Elliott (SPH), Professor James Scott (NHLI) and others, to establish the London Life Sciences Population (LOLIPOP) study, one of the largest cohort studies of Indian Asians world-wide. Our recent research efforts have capitalised on this unique population cohort, to provide new insight into the mechanisms underlying obesity, diabetes, cardiovascular disease and other human phenotypes. Key outputs include: 

  • Identification of MLXIPL as a key determinant of plasma triglyceride levels through its function as a co-ordinator of transcriptional regulation of enzymes that channel glycolytic end-products into lipogenesis and energy storage. (Kooner et al. Nature Genetic 2008)
  • Showed that common genetic variants near hypothalamic receptor MC4R are associated with central obesity and insulin resistance. Risk-allele frequencies are higher amongst Indian Asians than Europeans, suggesting a possible genetic mechanism contributing to the increased burden of central adiposity and insulin resistance in Asians. (Chambers et al. Nature Genetics 2008)
  • Demonstrated novel association of common genetic variants in TMPRSS6 with haemoglobin levels amongst people of both European and Indian Asian ancestry, most likely mediated through alteration of protease function, and hepcidin mediated control of iron homeostasis. Our findings could provide new insight into the genetic factors influencing anaemia and related blood disorders in man (Chambers et al. Nature Genetics 2009).
  • Showed for the first time that that genetic variants in SCN10A influence cardiac conduction, and that genetic variation at SCN10A locus is a novel susceptibility factor for heart block and serious ventricular arrhythmia in man (Chambers et al. Nature Genetics 2010).
  • Used genetic association, and the concept of Mendelian randomisation, to address the key question of whether CRP is causally linked with atherosclerosis or simply a marker of underlying inflammatory disturbances in atherosclerosis (Elliott.et al. JAMA 2009)
  • Identifiedfour genetic loci influencing kidney function and risk of chronic kidney disease. (Chambers et al. Nature Genetics 2010).

Publications

Journals

Yew YW, Chang BRQ, Mina T, et al., 2024, Association of atopic dermatitis with depression and sleep quality in an Asian general population cohort of 8887 participants, Journal of the European Academy of Dermatology and Venereology, ISSN:0926-9959

Chen S, Francioli LC, Goodrich JK, et al., 2024, Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes., Nature, Vol:626

Rozario P, Pinilla M, Gorse L, et al., 2024, Mechanistic basis for potassium efflux-driven activation of the human NLRP1 inflammasome., Proc Natl Acad Sci U S A, Vol:121

Chen S, Francioli LC, Goodrich JK, et al., 2024, A genomic mutational constraint map using variation in 76,156 human genomes., Nature, Vol:625, Pages:92-100

Guo MH, Francioli LC, Stenton SL, et al., 2024, Inferring compound heterozygosity from large-scale exome sequencing data., Nat Genet, Vol:56, Pages:152-161

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