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. 2008 Nov;57(11):2889-98.
doi: 10.2337/db08-0343.

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

Mark I McCarthy  1 , Andrew T Hattersley
Affiliations

Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes

Mark I McCarthy et al. Diabetes. 2008 Nov.
No abstract available

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Figures

FIG. 1.
FIG. 1.
The genetic heterogeneity of clinically defined MODY. The percentages given are based on over 1,000 referrals to the Exeter lab for genetic testing in MODY. (S. Ellard and A.T.H., unpublished data). MODY X represents patients with a clear clinical diagnosis of MODY who do not have a mutation in any of the known genes.
FIG. 2.
FIG. 2.
The genetic heterogeneity of the clinically defined subdivisions of neonatal diabetes. The percentages given are based on over 400 referrals to the Exeter and Salisbury labs for genetic testing for neonatal diabetes (S. Ellard, A.T.H., D. Mackay, and I.K. Temple, unpublished data). KCNJ11, ABCC8, INS, and HNF1B mutations are dominantly acting; GCK, PTF1A, EIF2AK3, IPF1, and some INS and ABCC8 mutations are recessively acting; FOXP3 is sex linked; and the 6q ZAC region for TNDM results from altered imprinting at this locus.
FIG. 3.
FIG. 3.
The impact on birth weight of a fetus inheriting the four most common MODY gene mutations. Birth weight is presented as centile birth weight with the fetus inheriting the mutation in blue and in comparison a fetus without the mutation in green. Data are from refs. , , and .
FIG. 4.
FIG. 4.
Simplified schematic of the processes involved in genetic predisposition to type 2 diabetes. Assignments of loci to particular processes are based on current knowledge of the presumed function of the best candidates within each signal and human physiological studies. These assignments should be considered provisional until the causal variants have been identified and the molecular mechanisms through which they act are established. Current evidence shows, however, that the majority of genes implicated in diabetes susceptibility act through effects on β-cell function and/or mass. This figure does not include the six type 2 diabetes–susceptibility loci reported most recently.
See this image and copyright information in PMC

References

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