Influence of Ethnicity with Type 2 Diabetes in Association of UCP2 -866G/A, PGC1 (Gly 482 Ser) and SIRT1 -1400T/C Polymorphisms in North Indian Punjabi Population Groups. A. BHANWER1, N. KAUL1,2, R. N. K. BAMEZAI2 1) HUMAN GENETICS, GURU NANAK DEV UNIVERSITY, AMRITSAR, PUNJAB, India; 2) National Centre of Applied Human Genetics, School of Life Science, Jawaharlal Nehru University, New Delhi 110067, India.

   Type 2 Diabetes (T2D) involves complex disorder involving defects in insulin secretion and insulin action pathways. Several studies have reported the role of UCP2 -866G/A, PGC1 (Gly482Ser) and SIRT1 -1400T/C polymorphisms in development of T2D involving insulin secretary pathway. The association of above mentioned polymorphisms was investigated in 859 Type 2 diabetics and 954 normal healthy control subjects from Punjab. India exhibits different ethnic population structure comprising various caste groups existing from ages which have mostly remained endogamous even today. Thus to assess the impact of ethnicity, independent association of these polymorphisms was carried out in Brahmins, Backward Castes (BCs), Jat Sikhs, Khatris, Rajputs, Banias and Scheduled Castes (SCs). Binary logistic regression was applied to test the association after adjusting for age, sex and BMI. In total population UCP2-866AA [p=0.0001, OR-1.46 (1.2-1.78)] and PGC1 AA [p=0.000002, OR-1.46 (1.20-1.78)] significantly provided risk. Caste based stratification revealed UCP2 -866 A/ AA provided risk only in Banias [p=0.000004, OR- 4.710-6, OR- 4 (2-5.9)], BCs [p=0.01, OR- 2.2 (1.1-4.2)] and SCs [p=0.0001, OR- 1.9 (1.16-3.2)] while PGC1 A/AA provided risk in BCs [p=0.0003, OR- 3.3 (1.7-5.5)], Jat Sikhs [p=0.0003, OR- 1.7 (1.20-2.4)] and Khatris [p=0.03, 1.51 (1.02- 2.27)]. SIRT1 -1400T/C polymorphism does not seem to provide risk either in the total population or in any of the caste groups except Khatris [p=0.004, OR- 2.4 (1.3-4.5)] of Punjab. The present investigation concludes that differential pattern of association of polymorphisms is observed for different caste groups, suggesting the putative role of ethnicity. Thus, for risk calculation and proper medical intervention, knowledge of the ethnicity and nature of variation in risk factors needs serious attention.

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