Do we need research on reporting on diabetes research?

Porta, Massimo; Federici, Massimo; Secchi, Antonio

doi:10.1007/s00592-015-0830-0

Cited by 3 publications

(2 citation statements)

References 4 publications

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“…The rs2228603 is most strongly associated with hepatic triglyceride content (HTGC), an index closely related to fatty liver disease33. The rs1260326 is another missense variant related with hyperglycemia, which was also related with liver fat content confirmed in a very recent work34. The rs17240268 and rs1051334 were also analyzed in some works but no conclusions were drawn that they are relevant to onset of T2D.…”

Section: Resultsmentioning

confidence: 99%

Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction

Jing

Dong

et al. 2017

Sci Rep

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Genome-wide association studies (GWAS) have identified more than sixty single nucleotide polymorphisms (SNPs) associated with increased risk for type 2 diabetes (T2D). However, the identification of causal risk SNPs for T2D pathogenesis was complicated by the factor that each risk SNP is a surrogate for the hundreds of SNPs, most of which reside in non-coding regions. Here we provide a comprehensive annotation of 65 known T2D related SNPs and inspect putative functional SNPs probably causing protein dysfunction, response element disruptions of known transcription factors related to T2D genes and regulatory response element disruption of four histone marks in pancreas and pancreas islet. In new identified risk SNPs, some of them were reported as T2D related SNPs in recent studies. Further, we found that accumulation of modest effects of single sites markedly enhanced the risk prediction based on 1989 T2D samples and 3000 healthy controls. The AROC value increased from 0.58 to 0.62 by only using genotype score when putative risk SNPs were added. Besides, the net reclassification improvement is 10.03% on the addition of new risk SNPs. Taken together, functional annotation could provide a list of prioritized potential risk SNPs for the further estimation on the T2D susceptibility of individuals.

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Section: Resultsmentioning

confidence: 99%

Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction

Jing

Dong

et al. 2017

Sci Rep

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“…Clinical studies also point to the frequent occurrence of betacell failure in persons with diabetes. 10 …”

Section: Diabetic Beta-cell Functionmentioning

confidence: 99%

Beta-cell Insufficiency

Kalra

Gupta

2017

European Endocrinology

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Abstract‘Beta-cell failure’ is a frequently used term to describe the structural and functional inability of the cells to fulfil their metabolic responsibility. This editorial reviews the anatomy and physiology of the beta cell, and describes factors which regulate this. The authors focus on semantics, comparing the phrases ‘beta-cell failure’, ‘functional mass’, and ‘beta-cell insufficiency’. They suggest the use of ‘beta-cell insufficiency’, with descriptors such as ‘partial’ and ‘complete’, or ‘reversible’ and ‘irreversible’, to convey betacell dysfunction in type 2 diabetes. A three-phase taxonomic structure: beta-cell sufficiency, partial/reversible beta-cell insufficiency and complete/irreversible beta-cell insufficiency, is proposed as a tool to understand pathophysiology and facilitate therapeutic decision-making.

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