Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK

Kropff, Jort; Selwood, M P; McCarthy, Mark I.; Farmer, Andrew; Owen, Katharine R.

doi:10.1007/s00125-011-2090-z

Cited by 63 publications

(46 citation statements)

References 8 publications

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“…The most recent attempt, a community-based cross-sectional study by Kropff and colleagues, estimated the prevalence of HNF1A-MODY in the UK to be 84 cases per million (95% CI 36-131). The study also estimated that nearly 90% of HNF1A-MODY cases in the UK, of which there are at least 5,000-6,000, remain undiagnosed, which was in close agreement with a preceding study by Shields and colleagues [5,33].…”

Section: Who Has Mody? Discovery Of Genetic Culprits and Estimations supporting

confidence: 90%

“…In contrast to Southern Europe, HNF1A-MODY is more commonly diagnosed in the United Kingdom and Scandinavia, where blood glucose tests are mainly reserved for referred patients for whom a diagnosis of diabetes has already been made, but rarely conducted in asymptomatic individuals [4,5]. Efforts have been made to approximate the minimum population prevalence of MODY among adults and children in European countries, albeit inconclusively, as most were neither systematic nor up to scale [3,5,[30][31][32][33]. The most recent attempt, a community-based cross-sectional study by Kropff and colleagues, estimated the prevalence of HNF1A-MODY in the UK to be 84 cases per million (95% CI 36-131).…”

Section: Potassium Channel (K Atp ) Modymentioning

confidence: 99%

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When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

Althari¹,

Gloyn²

2015

Rev Diabet Stud

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Section: Who Has Mody? Discovery Of Genetic Culprits and Estimations supporting

confidence: 90%

Section: Potassium Channel (K Atp ) Modymentioning

confidence: 99%

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

Althari¹,

Gloyn²

2015

Rev Diabet Stud

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“…An important question is whether this finding could be the basis of a diagnostic test for HNF1A-MODY. Mutations in HNF1A are the commonest form of monogenic diabetes in the UK, with a minimum prevalence estimated at 50-80 per million of the population [8,9]. There are important clinical implications of establishing an accurate molecular genetic diagnosis of HNF1A-MODY.…”

Section: Introductionmentioning

confidence: 99%

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

et al. 2011

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Aims/hypothesis An accurate molecular diagnosis of diabetes subtype confers clinical benefits; however, many individuals with monogenic diabetes remain undiagnosed.Biomarkers could help to prioritise patients for genetic investigation. We recently demonstrated that highsensitivity C-reactive protein (hsCRP) levels are lower in UK patients with hepatocyte nuclear factor 1 alpha Diabetologia (2011) 54:2801-2810 DOI 10.1007/s00125-011-2261 (HNF1A)-MODY than in other diabetes subtypes. In this large multi-centre study we aimed to assess the clinical validity of hsCRP as a diagnostic biomarker, examine the genotype-phenotype relationship and compare different hsCRP assays. Methods High-sensitivity CRP levels were analysed in individuals with HNF1A-MODY (n=457), glucokinase (GCK)-MODY (n=404), hepatocyte nuclear factor 4 alpha (HNF4A)-MODY (n=54) and type 2 diabetes (n=582) from seven European centres. Three common assays for hsCRP analysis were evaluated. We excluded 121 participants (8.1%) with hsCRP values >10 mg/l. The discriminative power of hsCRP with respect to diabetes aetiology was assessed by receiver operating characteristic curvederived C-statistic. Results In all centres and irrespective of the assay method, meta-analysis confirmed significantly lower hsCRP levels in those with HNF1A-MODY than in those with other aetiologies (z score −21.8, p<5×10 −105 ). HNF1A-MODY cases with missense mutations had lower hsCRP levels than those with truncating mutations (0.03 vs 0.08 mg/l, p<5× 10 −5 ). High-sensitivity CRP values between assays were strongly correlated (r 2 ≥0.91, p≤1×10 −5 ). Across the seven centres, the C-statistic for distinguishing HNF1A-MODY from young adult-onset type 2 diabetes ranged from 0.79 to 0.97, indicating high discriminative accuracy.

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“…An obvious question for Norway as well as UK, is how many cases are we missing in our registries? On the basis of a marked regional variation in the prevalence of confirmed MODY, two UK studies estimated that in the UK, 80-90% are not diagnosed by molecular testing (25,26). If such a calculation were applied to Norway, we would arrive at a nation-wide number of 2500-5000 MODY cases.…”

Section: Discussionmentioning

confidence: 99%

Monogenic diabetes mellitus in Norway

Søvika¹,

Irgens²,

Molnes³

et al. 2013

Nor J Epidemiol

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Here, we review data on monogenic diabetes mellitus in Norway based on the Norwegian MODY Registry at Haukeland University Hospital, Bergen. This registry comprises established or suspected cases of maturity-onset diabetes of the young (MODY) referred to our laboratory for genetic testing. We also present data on neonatal diabetes, another group of monogenic diabetes. To date, we have genetically diagnosed nearly 500 MODY cases in Norway. Mutations in the HNF1A gene (MODY3) were detected in about 50% of families with clinical MODY. GCK-MODY (MODY2) was the second most prevalent type, but may be underreported. We have also found mutations in the monogenic genes ABCC8, CEL, HNF1B, HNF4A, INS, KCNJ11 and NEUROD1. Based on genetic screening in the Norwegian MODY Registry and HUNT2, we estimate the number of MODY cases in Norway to be at least 2500-5000. Founder effects may determine the geographical distribution of MODY mutations in Norway. The molecular genetic testing of MODY and neonatal diabetes is mandatory for correct diagnosis and prognosis as well as choice of therapy.

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Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK

Cited by 63 publications

References 8 publications

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes

Monogenic diabetes mellitus in Norway

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