Hormonal
Specific rare or low-frequency genetic variants (e.g., in SLC30A8, MTNR1B, PPARG) can have a large functional effect on T2DM risk, with some loss-of-function variants actually protecting against the disease.
While common genes have small effects, rare genetic mutations can drastically alter your diabetes risk. For example, certain mutations in the SLC30A8 gene actually protect against Type 2 Diabetes by improving insulin secretion. This highlights that genetics is complex and not all genetic changes are harmful; some can be protective and offer targets for new treatments.
Regarding SLC30A8, which encodes an important protein (ZnT8) involved in insulin secretion, rare protein-truncating variants were associated with a decreased risk of T2DM. It is currently suggested that SLC30A8 could be a novel therapeutic target for T2DM.
Why this rating
Based on specific sequencing studies and functional validation, though sample sizes for rare variants are smaller than GWAS.
Source
Recent progress in genetic and epigenetic research on type 2 diabetes
Soo Heon Kwak et al. · Experimental & Molecular Medicine · 2016
DOI 10.1038/emm.2016.7
More from this paper
- Type 2 diabetes is a complex metabolic disorder driven by a strong genetic predisposition involving at least 75 identified common genetic loci, with heritability further modulated by epigenetic mechanisms such as DNA methylation in response to environmental factors.Strong
- Epigenetic modifications, particularly DNA methylation, serve as a mechanism through which environmental factors (such as intrauterine malnutrition, obesity, and diet) influence the development of Type 2 Diabetes.Good
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