Genetic risk score effective in diagnosing type-1 diabetes



A new study has found that a genetic risk score is effective in diagnosing type-1 diabetes in Indians. The study was done by researchers of the CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, KEM Hospital and Research Centre, Pune and University of Exeter, UK.

The genetic risk score developed by the University of Exeter takes into account detailed genetic information that are known to increase the chance of developing type-1 diabetes. The score may be used at the time of diabetes diagnosis to help decide if someone has type-1 diabetes, an official release said.

Many questions have been raised if the genetic rick score used in European population will be effective in diagnosing type-1 diabetes in Indian population. As such, the researchers studied a group of diabetic people from Pune, India using the genetic risk score. The team analysed 262 people with type-1 diabetes, 352 people with type-2 diabetes, and 334 people without diabetes. All were of Indian (Indo-European) ancestry. The research outcomes compared well with those in Europeans as revealed in the Wellcome Trust Case Control Consortium Study.

Children and adolescents are believed till now to get type-1 diabetes. Obese and older (typically after 45 years of age) get type-2 diabetes. However, recent findings have shown that type-1 diabetes can occur later in life, while type-2 diabetes is on the rise among younger and thinner Indians.


It has always been difficult in distinguishing the two types of diabetes. The two types follow different treatment regime with type-1 diabetes needing lifelong insulin injections but type-2 diabetes often being managed with diet or tablet treatment. Misclassification of the type of diabetes may lead to sub-standard diabetes care and possible complications. In this context, this particular study gains importance as it helps in diagnosing diabetes from its type-1 and type 2 variants correctly, the release said.

Though the genetic score was based on European data, they found that it was effective in diagnosing the right type of diabetes in Indians.

Dr Richard Oram, of the University of Exeter Medical School said “diagnosing the right diabetes type is an increasingly difficult challenge for clinicians, as we now know that type 1 diabetes can occur at any age. This task is even harder in India, as more cases of type 2 diabetes occur in people with low BMI. We now know that our genetic risk score is an effective tool for Indians, and can help get people on the treatment they need to avoid life-threatening complications such as diabetic ketoacidosis and to achieve the best health outcomes”,


Dr ChittaranjanYajnik of the KEM Hospital and Research Centre said that the escalating epidemic of diabetes in young Indians makes it imperative that it was necessary to diagnose correctly diagnose the type of diabetes to avoid mistreatment and its long-term biological, social, and economic implications.


“The new genetic tool will be a great help in this. It will help decide the contribution of failing pancreatic B-cells against reduced action of insulin due to excess fat and smaller muscle mass in the body of Indians (‘thin-fat Indians’). He further said, “We look forward to using this test in diabetic patients from different parts of India where the physical characteristics of diabetic patients differ from the standard description,” he said.

The authors also found that the study can be used to predict the onset of type 1 diabetes in Indians.

Chief Scientist leading the study at CCMB Dr G R Chandak said “it is interesting to note that different SNPs are more abundant among Indian and European patients. This opens up the possibility that environmental factors might be interacting with these SNPs to cause the disease.”


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