All you need to know about the genetics of diabetes (types 1 and 2 and MODY)

Recent advances in genotyping technologies combined with large scale recruitment of casecontrol cohorts have enabled the development of the genome-wide association (GWA) study design. As a consequence of this ongoing work, 64 single nucleotide polymorphisms (SNPs) located in 53 chromosome regions have now been associated with type 1 diabetes (T1D) risk (see www.t1dbase.org). These findings provide an unbiased assessment of the genetic...

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ea0025s1.2 | All you need to know about the genetics of diabetes (types 1 and 2 and MODY) | SFEBES2011

The diverse phenotypes of K_ATP channel mutations

Ellard Sian

In recent years, there has been significant progress in defining the genetic aetiology of neonatal diabetes (NDM). It is likely that all cases result from single gene disorders since markers of autoimmunity associated with polygenic type 1 diabetes are rare in patients diagnosed before 6 months.Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the β-cell ATP sensitive potassium (KATP...

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ea0025s1.3 | All you need to know about the genetics of diabetes (types 1 and 2 and MODY) | SFEBES2011

How to find all the cases of MODY in your diabetes clinic…

Owen Katharine

Maturity-onset diabetes of the young (MODY) is a group of monogenic disorders of β-cell function which causes diabetes in young adults. Diagnosing MODY is important as the different subtypes have distinct first line treatments, e.g. low dose sulphonylureas in HNF1A mutations while no treatment is required in GCK mutations. This can lead to treatment changes including discontinuing insulin therapy. First degree family members can also be offered diabetes scre...

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ea0025s1.4 | All you need to know about the genetics of diabetes (types 1 and 2 and MODY) | SFEBES2011