Genetics of Type 1 Diabetes

Zemunik, Tatijana; Boraska, Vesna

doi:10.5772/21880

Cited by 2 publications

(2 citation statements)

References 52 publications

(102 reference statements)

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“…This, and the polygenic origin of many diseases and conditions, necessitates the combination of many markers (SNPs) to arrived at an aggregated risk score, the PRS. This figure is in part adapted from [ 15 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

A perspective on genetic and polygenic risk scores—advances and limitations and overview of associated tools

Schwarzerova,

Hurta,

Barton

et al. 2024

Briefings in Bioinformatics

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Polygenetic Risk Scores are used to evaluate an individual's vulnerability to developing specific diseases or conditions based on their genetic composition, by taking into account numerous genetic variations. This article provides an overview of the concept of Polygenic Risk Scores (PRS). We elucidate the historical advancements of PRS, their advantages and shortcomings in comparison with other predictive methods, and discuss their conceptual limitations in light of the complexity of biological systems. Furthermore, we provide a survey of published tools for computing PRS and associated resources. The various tools and software packages are categorized based on their technical utility for users or prospective developers. Understanding the array of available tools and their limitations is crucial for accurately assessing and predicting disease risks, facilitating early interventions, and guiding personalized healthcare decisions. Additionally, we also identify potential new avenues for future bioinformatic analyzes and advancements related to PRS.

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Section: Introductionmentioning

confidence: 99%

A perspective on genetic and polygenic risk scores—advances and limitations and overview of associated tools

Schwarzerova,

Hurta,

Barton

et al. 2024

Briefings in Bioinformatics

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“…T ype 1 diabetes mellitus (T1DM) is a chronic autoimmune disorder that develops in susceptible individuals by environmental and genetic factors (1)(2)(3). Among the genetic factors, besides the HLA region on chromosome 6q21, which contributes to approximately 40% of T1DM development, more than 50 non-HLA genes significantly increase the risk of T1DM (1,2,4). Throughout nearly four decades since this discovery, researchers have investigated other genetic loci, in addition to HLA, that could contribute to the risk of T1DM (5,6).…”

Section: Introductionmentioning

confidence: 99%

The low-density lipoprotein receptor-related protein 5 (LRP5) 4037C>T polymorphism: candidate for susceptibility to type 1 diabetes mellitus

Souza¹,

Ururahy²,

Oliveira³

et al. 2018

Archives of Endocrinology and Metabolism

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Objective:The present study has investigated the association between low-density lipoprotein receptor-related protein 5 (LRP5) 4037C>T polymorphism and type 1 diabetes mellitus (T1DM) susceptibility in a Brazilian population. Subjects and methods: A total number of 134 T1DM patients and 180 normoglycemic individuals (NG) aged 6-20 years were studied. Glycated hemoglobin and glucose levels were determined. Genotyping of LRP5 4037C>T (rs3736228) was performed. Results: T1DM patients showed poor glycemic control. Genotypes in the codominant (CT: OR = 2.99 [CI 95%: 1.71-5.24], p < 0.001; TT: OR = 5.34 [CI 95%: 1.05-27.02], p < 0.001), dominant (CT + TT: OR = 3.16 [CI 95%: 1.84-5.43], p < 0.001) and log-additive (OR = 2.78 [CI 95%: 1.70-4.52], p < 0.001) models, and LRP5 4037 T allele (OR = 2.88, [CI 95%: 1.78-4.77], p < 0.001) were associated with an increased risk of developing T1DM. LRP5 4037CT and CT+ TT carriers in T1DM group showed higher concentrations of serum glucose and glycated hemoglobin when compared with CC carriers. Conclusion: The LRP5 4037C>T may represent a candidate for T1DM susceptibility, as well as poor glycemic control. Arch

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Genetics of Type 1 Diabetes

Cited by 2 publications

References 52 publications

A perspective on genetic and polygenic risk scores—advances and limitations and overview of associated tools

A perspective on genetic and polygenic risk scores—advances and limitations and overview of associated tools

The low-density lipoprotein receptor-related protein 5 (LRP5) 4037C>T polymorphism: candidate for susceptibility to type 1 diabetes mellitus

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