Ashok Kumar, Sarita Agarwal and Sunil Pradhan
Aim: Myotonic dystrophy type 1 (DM1) is due to CTG repeats in the 3’UTR region of DMPK gene. It has an incidence of 1 in 8000 in the Western European and North American populations and a lower incidence of 1 in 20,000 in Japan. However, prevalence of the disease in diverse Indian populations is still unknown. Materials and Methods: The intention of the present study was to perform the meta-analysis to investigate the different ethnic frequency and risk ratio of DM1 in different populations of the world including India. Total twelve populations belong from Europeans, Asians and American were included in the present study. Meta-analyst was used for the analysis. Results: The meta-analysis of the seven European populations demonstrated that Italian population had higher risk ratio in comparison to other studied population. Similarly, the three Asian populations demonstrated that South Indian population had higher risk ratio in comparison of North India and Korean population. In addition, the meta-analysis of two American population postulated that Canada had higher risk ratio in comparison of Brazil. Conclusion: A vast ethnic variation in frequency of DMPK gene of different population of DM1, and expanded CTG repeat alleles as well as associated risk.