Type 2 Diabetes: Genetic Risk Factors
Type 2 Diabetes: Genetic Risk Factors is a topic covered in the Johns Hopkins Diabetes Guide.
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DEFINITION
- A single nucleotide polymorphism (SNP) is a variation in a single nucleotide of the DNA that occurs at a specific position within the genome. SNPs can be easily genotyped and are the main source of genetic variation studied in genetic association studies.
- Polygenic refers to the cumulative effects of many genes, each having very small effects.
- A polygenic risk score (PRS) is a quantitative score that characterizes an individual’s genetic risk of disease. The PRS is generated by summing the number of risk alleles for that individual across multiple loci. For a PRS based on 100 loci, an individual’s PRS would thus range from 0 to 200, depending on whether the individual had 0, 1, or 2 copies of the risk allele at each locus. Each risk allele can also be weighted by its effect size.
- Epigenetic effects involve changes to a phenotype that arise from changes in gene expression from mechanisms other than modification of the DNA sequence itself. The three major mechanisms contributing to epigenetic changes to gene regulation are DNA methylation, histone modification, and RNA regulation.
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DEFINITION
- A single nucleotide polymorphism (SNP) is a variation in a single nucleotide of the DNA that occurs at a specific position within the genome. SNPs can be easily genotyped and are the main source of genetic variation studied in genetic association studies.
- Polygenic refers to the cumulative effects of many genes, each having very small effects.
- A polygenic risk score (PRS) is a quantitative score that characterizes an individual’s genetic risk of disease. The PRS is generated by summing the number of risk alleles for that individual across multiple loci. For a PRS based on 100 loci, an individual’s PRS would thus range from 0 to 200, depending on whether the individual had 0, 1, or 2 copies of the risk allele at each locus. Each risk allele can also be weighted by its effect size.
- Epigenetic effects involve changes to a phenotype that arise from changes in gene expression from mechanisms other than modification of the DNA sequence itself. The three major mechanisms contributing to epigenetic changes to gene regulation are DNA methylation, histone modification, and RNA regulation.
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Last updated: January 13, 2021
Citation
Mitchell, Braxton D, and Nisa Maruthur. "Type 2 Diabetes: Genetic Risk Factors." Johns Hopkins Diabetes Guide, 2021. Johns Hopkins Guides, www.hopkinsguides.com/hopkins/view/Johns_Hopkins_Diabetes_Guide/547145/all/Type_2_Diabetes:_Genetic_Risk_Factors.
Mitchell BD, Maruthur N. Type 2 Diabetes: Genetic Risk Factors. Johns Hopkins Diabetes Guide. 2021. https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_Diabetes_Guide/547145/all/Type_2_Diabetes:_Genetic_Risk_Factors. Accessed March 24, 2023.
Mitchell, B. D., & Maruthur, N. (2021). Type 2 Diabetes: Genetic Risk Factors. In Johns Hopkins Diabetes Guide https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_Diabetes_Guide/547145/all/Type_2_Diabetes:_Genetic_Risk_Factors
Mitchell BD, Maruthur N. Type 2 Diabetes: Genetic Risk Factors [Internet]. In: Johns Hopkins Diabetes Guide. ; 2021. [cited 2023 March 24]. Available from: https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_Diabetes_Guide/547145/all/Type_2_Diabetes:_Genetic_Risk_Factors.
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