Genotyping Indian patients with primary cardiomyopathies-analysis of database

INTRODUCTION: Each population has its own unique genotype. Genotyping data on Indian cardiomyopathy patients is lacking. METHODS: We aimed to create and analyse a database of sequence variations in Indian patients with primary cardiomyopathies. This included all data of the cardiomyopathy cohort at the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh. In addition, all published papers in Pubmed containing sequence variations in Indian cardiomyopathy patients till December 2020 using specific search terms were included. Affected genes and sequence variations, methodologies and quality of clinical data was analysed. Novel sequence variations were documented. RESULTS: A database of 493 datasets including 417 different sequence variations was created. Of these, the PGIMER database had 137 datasets consisting of 94 different variants. Only 63 publications included genotyping data of Indian cardiomyopathy cohort from 2000 to 2020 reporting 335 sequence variations. Five (7.9%) studies were from institutions abroad. Of published variations, 35.1% were novel. Most studies carried out selective genotyping. Comprehensive genotyping using cardiomyopathy panels or whole exome sequencing was reported in only 9 (14.3%) publications. CONCLUSION: Database of 417 different sequence variations in Indian cardiomyopathy patients was analysed. Over a third of all reported sequence variations in Indians were novel.