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Nat Rev Endocrinol. 2016 Jul;12(7):394-406. doi: 10.1038/nrendo.2016.50. Epub 2016 Apr 15.

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.

Author information

1
Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, 415 Main Street, Cambridge, Massachusetts 02142, USA.
2
Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, Massachusetts 02114, USA.
3
K.G. Jebsen Center for Diabetes Research, The Department of Clinical Science, University of Bergen, Jonas Lies veg 87, N-5020 Bergen, Norway.
4
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Jonas Lies veg 65, N-5021 Bergen, Norway.
5
Department of Pediatrics, Haukeland University Hospital, Jonas Lies veg 65, N-5021 Bergen, Norway.

Abstract

Insights into the genetic basis of type 2 diabetes mellitus (T2DM) have been difficult to discern, despite substantial research. More is known about rare forms of diabetes mellitus, several of which share clinical and genetic features with the common form of T2DM. In this Review, we discuss the extent to which the study of rare and low-frequency mutations in large populations has begun to bridge the gap between rare and common forms of diabetes mellitus. We hypothesize that the perceived division between these diseases might be due, in part, to the historical ascertainment bias of genetic studies, rather than a clear distinction between disease pathophysiologies. We also discuss possible implications of a new model for the genetic basis of diabetes mellitus subtypes, where the boundary between subtypes becomes blurred.

PMID:
27080136
DOI:
10.1038/nrendo.2016.50
[Indexed for MEDLINE]

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