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Bio-cultural Risk Factor Assessment for Type 2 Diabetes: Consortium for the Family Studies of Genetics of Type 2 Diabetes in Indian Populations

As the World Health Organization’s Projection would have it, India would be populated by 79 million Type2 Diabetics (T2DM), by the year 2030 and if that be the case, India would top the ten countries of the world that are estimated to have the largest number of diabetics in the world. Longstanding T2DM develops micro vascular complications such as nephropathy, neuropathy and retinopathy. The trend of changing lifestyles, sedentary patterns of work sans manual labour, has gradually increased obesity and this would further increase in the near future. In addition to obesity, other metabolic abnormalities like insulin resistance as well as impaired glucose tolerance, hyperinsulinemia, dyslipidemia along with hypertension often cluster together to constitute the metabolic syndrome (MS). The MS is a predictor of both T2DM and Coronary Heart Disease (CHD), which is again rising to an alarming rate of high prevalence, globally. The disease conditions such as T2DM, MS and obesity are complex phenotypes influenced by both genetic and environmental factors and their interaction. Fuelled by the explosion of research activities associated with the Human Genome Project, molecular genetics and statistical genetics, progress in the understanding of etiology of T2DM or obesity has been phenomenal in the developed countries. But little is known about the genetic bases of T2DM and obesity in Indian populations. The present proposal plans to conduct multidisciplinary studies to examine the genetic and environmental or cultural influences of susceptibility to T2DM and its related disease conditions such as obesity and MS in Indian populations.

Given the Indian population diversity, unique endogamous ethnic communities with large family structures are highly suitable for genetic epidemiological investigation of complex diseases. Study of diseases such as T2DM and obesity in Indian populations would truly be ideal to examine the gene-environment interaction on the susceptibility to such diseases. Only such studies would be able to facilitate effective strategies to prevent the disease and treat individuals who are at a high risk for such diseases.

The major objective of this study would be to conduct multidisciplinary studies by recruiting family members from complex pedigrees that are ascertained to be having type 2 diabetic probands and collect phenotypic data to examine their genetic determinants. To be very specific, its major goal is to identify susceptibility genes for T2DM and obesity related traits, using genome wide association and linkage studies, by uniquely planning to establish a consortium for the family studies of genetics of T2DM representing three distinct caste populations, with unique bio-cultural background, namely Gangadikara Vokkaliga of Mysore, Gavara of Visakhapatnam and the Mathur of Jodhpur.

The collaborating institutions include 1 Anthropological Survey of India, 2 JSS Medical College and Hospital, Mysore, 3. Apoorva Diabetic Foundation, Mysore, 4. Andhra Medical College, Visakhapatnam, 5 Andhra University, Visakhapatnam, 6. Desert Medicine Research Centre, ICMR, Jodhpur and 7. Department of Genetics, South West Foundation for Biomedical Research, San Antonio, USA.

All the analyses of the samples will be done in the Survey’s laboratories, after obtaining all ethical clearances. No sample or data will be permitted to go out side the country.

This study would be the first of its kind to be initiated in this country and may subsequently lead to many more studies for different diseases, in and around the country.

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