Genetic Insights Shed Light on Diabetes Complexity: Research Highlights Role of Genes in Disease Development

Back in 1953, James Watson and Francis Crick made a huge breakthrough in science. They figured out the shape of DNA, which is like a twisted ladder. This discovery changed a lot in science, especially in the study of genes and how they work inside our cells, like in diseases such as diabetes. Diabetes is a complicated problem that affects a lot of people worldwide. It’s about how your body handles sugar. Things like what you eat and how much you move around can make you more likely to get diabetes. But your genes, the stuff you inherit from your family, also play a big role. Understanding all of this helps scientists find ways to prevent and treat diabetes. They’re learning how genes and other factors work together to cause it. So, while what you do every day matters, so does what’s in your genes.

Gene research has identified numerous genetic variations associated with both type 1 and type 2 diabetes through Genome-wide association studies (GWAS). The gene variations influencing insulin secretion, signaling, and biological pathways highlight the disease’s genetic complex. Type 1 diabetes is an autoimmune disorder that arises from the body’s immune system gradually destroying the pancreatic beta cells that produce insulin.

Genetically, the most significant association with Type 1 diabetes is found in variations in classical HLA class II genes located on chromosomes 6p21.3. As per WHO, there are differences in a child’s likelihood of getting type 1 diabetes. Children at risk range from 1 to 17 if their father has diabetes. If the mother has type 1 and the child is born before the age of 25, the child’s risk is 1 in 25, and if born later, it is 1 in 100. By being aware of this hereditary component, one may identify high-risk individuals and implement prevention measures. 

Type 2 diabetes is influenced by both environmental and genetic factors, with heritability ranging from 20% to 80%. Genes such as TCF7L2, CDKAL1, CDKN1C, and IGF2Bp2 have been identified as playing a role in diabetes through genetic technologies. TCF7L2 locus regulates immune response genes like PLCG2, ZEB1, and ROBO1 and insulin signaling.

Hence, it acts as a hub for essential genes in the etiology of type 2 diabetes. Influenced by the environment, epigenetic modifications alter gene expression without changing DNA sequences, providing further insight into diabetes progression.

Credit: Dr Navneet Agrawal, Chief Clinical Officer, BeatO