Abstract
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.
Highlights
Myotonic dystrophy (DM) is an autosomal dominant, multisystem trinucleotide repeat disorder
The meta-analysis of the seven European populations demonstrated that Italian population had higher risk ratio in comparison to other studied population
The meta-analysis of two American population postulated that Canada had higher risk ratio in comparison of Brazil
Summary
Myotonic dystrophy (DM) is an autosomal dominant, multisystem trinucleotide repeat disorder. Two different mutations are responsible for DM: DM1 (OMIM #160900) is caused by a (CTG) n repeat expansion in the 3’-untranslated region of the DMPK gene located within chromosome band 19ql3.3 [2,3] while DM2 (OMIM #602688) is caused by a large (CCTG)n repeat expansion in intron l of the CNBP gene at chromosome 3q21 [4,5]. The disorder shows a phenomenon of genetic anticipation in which affected individuals in succeeding generations have an earlier age of onset and a more severe clinical course [6] due to the expansion of the repeat number during gametogenesis. The repeats in DMPK are repeats of CTG and vary in the normal population from 5 to 34. The size more than 50 CTG is associated with DM1 and severity correlates with CTG repeat number [2,9,10,11]
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