Genetic risk score effective in diagnosing type 1 diabetes in Indians: study

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Written by ANURADHA MASCAREHNAS | Pune | Published: June 12, 2020 4:21:23 am

Diabetes, genetic risk score Diabetes, Type 1 Diabetes, Diabetes research The score may be used at the time of diabetes diagnosis to help decide if a person has type 1 diabetes. (Representational Image)

A genetic risk score, which tells how a person’s risk compares to others with a different genetic constitution, is effective in diagnosing type 1 diabetes in Indians, a new research has found.

Genetic risk score, developed by the University of Exeter, takes into account detailed genetic information 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 a person has type 1 diabetes.

Until now, the bulk of research in this field had been conducted on European populations. In a paper published on Thursday in ‘Scientific Reports’, an online multidisciplinary open-access journal from the publishers of ‘Nature’, researchers have now analysed whether the European risk score is effective in diagnosing type 1 diabetes in Indians.

The study has been carried out by researchers from KEM Hospital in Pune, CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, and the University of Exeter in the UK.

The research, supported by Diabetes UK, the KEM Hospital Research Centre, Pune and the Council of Scientific and Industrial Research (CSIR) in India, found that the test is effective in diagnosing the right type of diabetes in Indians, even in its current form, which is based on European data.

Prof Chittaranjan Yajnik, director, diabetes unit, KEM Hospital, said the research has shown a new way of using genetics to diagnose diabetes, which could pave the way for better diagnosis and treatment in India.

He said: “Misdiagnosis of diabetes could be an issue in India because of features of diabetes in Indians might vary from the standard western textbooks. Until recently, it was widely believed that type 1 diabetes appeared in children and adolescents, and type 2 diabetes in obese and older (typically after 45 years of age). 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.”

The team studied people with diabetes from Pune, analysing 262 people with type 1 diabetes, 352 people with type 2 diabetes, and 334 people without diabetes. Outcomes from the Indian population were compared with those of Europeans from the Wellcome Trust Case Control Consortium study.

The authors found genetic differences between the populations, which mean the test could be further improved to enhance outcomes for Indian populations.

Dr Richard Oram, of the University of Exeter Medical School and one of the study authors, 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 treatment they need to avoid life-threatening complications such as diabetic ketoacidosis and achieve the best health outcomes.”

Dr Yajnik said rising diabetes cases among in young Indians makes it imperative that we diagnose the type of diabetes correctly to avoid mistreatment. The new genetic tool, he said, will help decide when diabetes is mainly caused by autoimmune destruction of pancreatic beta cells (type 1 diabetes), and when it is mainly caused by reduced action of insulin due to excess fat and smaller muscle mass in the body (‘thin-fat Indians’), as is the case in type 2 diabetes.

Dr Yajnik 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.”

In a statement, CCMB director Dr Rakesh K Mishra said: “Since more than 20 per cent of people with type 1 diabetes below the age of 15 years of age are in India, developing a genetic test kit to reliably detect type 1 from type 2 diabetes holds a lot of significance for the country.”

The authors found nine genetic areas — called the SNPs, or single nucleotide polymorphism, which is basically variants in the genome of an individual — that correlate with type 1 diabetes, both in Indian and European populations, and can be used to predict the onset of type 1 diabetes in Indians.

Dr G R Chandak, chief scientist leading the study at CSIR-Centre for Cellular and Molecular Biology (CCMB), told The Indian Express 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,” he said.

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