Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
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Jain Abhinav, Bhoyar Rahul C, Pandhare Kavita, Mishra Anushree, Sharma Disha, Imran Mohamed, Senthivel Vigneshwar, Divakar Mohit Kumar, Rophina Mercy, Jolly Bani, Batra Arushi, Sharma Sumit, Siwach Sanjay, Jadhao Arun G, Palande Nikhil V, Jha Ganga Nath, Ashrafi Nishat, Mishra Prashant Kumar, A K Vidhya, Jain Suman, Dash Debasis, Kumar Nachimuthu Senthil, Vanlallawma Andrew, Sarma Ranjan Jyoti, Chhakchhuak Lalchhandama, Kalyanaraman Shantaraman, Mahadevan Radha, Kandasamy Sunitha, B M Pabitha, Rajagopal Raskin Erusan, Ramya J Ezhil, Devi P Nirmala, Bajaj Anjali, Gupta Vishu, Mathew Samatha, Goswami Sangam, Mangla Mohit, Prakash Savinitha, Joshi Kandarp, Meyakumla, S Sreedevi, Gajjar Devarshi, Soraisham Ronibala, Yadav Rohit, Devi Yumnam Silla, Gupta Aayush, Mukerji Mitali, Ramalingam Sivaprakash, B K Binukumar, Scaria Vinod, Sivasubbu Sridhar
Аннотация
RESULTS: We have systematically annotated the genetic variants of 56 genes implicated in autoinflammatory disorder. These genetic variants were reclassified into five categories (i.e., pathogenic, likely pathogenic, benign, likely benign, and variant of uncertain significance (VUS)) according to the American College of Medical Genetics and Association of Molecular pathology (ACMG-AMP) guidelines. Our analysis revealed 20 pathogenic and likely pathogenic variants with significant differences in the allele frequency compared with the global population. We also found six causal founder variants in the IndiGen dataset belonging to different ancestry. We have performed haplotype prediction analysis for founder mutations haplotype that reveals the admixture of the South Asian population with other populations. The cumulative carrier frequency of the autoinflammatory disorder in India was found to be 3.5% which is much higher than reported.
CONCLUSION: With such frequency in the Indian population, there is a great need for awareness among clinicians as well as the general public regarding the autoinflammatory disorder. To the best of our knowledge, this is the first and most comprehensive population scale genetic epidemiological study being reported from India.