Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Autor:	Jain A; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Bhoyar RC; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Pandhare K; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Mishra A; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Sharma D; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Imran M; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Senthivel V; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Divakar MK; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Rophina M; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Jolly B; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Batra A; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Sharma S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Siwach S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Jadhao AG; Department of Zoology, RTM Nagpur University, Nagpur, Maharashtra, 440033, India., Palande NV; Department of Zoology, Shri Mathuradas Mohota College of Science, Nagpur, Maharashtra, 440009, India., Jha GN; Department of Anthropology, Vinoba Bhave University, Hazaribag, Jharkhand, 825301, India., Ashrafi N; Department of Anthropology, Vinoba Bhave University, Hazaribag, Jharkhand, 825301, India., Mishra PK; Department of Biotechnology, Vinoba Bhave University, Hazaribag, Jharkhand, 825301, India., A K V; Department of Biochemistry, Dr. Kongu Science and Art College, Erode, Tamil Nadu, 638107, India., Jain S; Thalassemia and Sickle Cell Society, Hyderabad, Telangana, 500052, India., Dash D; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Kumar NS; Department of Biotechnology, Mizoram University, Aizawl, Mizoram, 796004, India., Vanlallawma A; Department of Biotechnology, Mizoram University, Aizawl, Mizoram, 796004, India., Sarma RJ; Department of Biotechnology, Mizoram University, Aizawl, Mizoram, 796004, India., Chhakchhuak L; Department of Pathology, Civil Hospital Aizawl, Mizoram, 796001, India., Kalyanaraman S; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., Mahadevan R; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., Kandasamy S; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., B M P; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., Rajagopal RE; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., Ramya J E; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., Devi P N; TVMC, Tirunelveli Medical College, Tirunelveli, Tamil Nadu, 627011, India., Bajaj A; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Gupta V; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Mathew S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Goswami S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Mangla M; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Prakash S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Joshi K; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., Meyakumla; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India., S S; Department of Microbiology, St.Pious X Degree & PG College for Women, Hyderabad, Telangana, 500076, India., Gajjar D; Department of Microbiology, The Maharaja Sayajirao University of Baroda, Vadodara, Gujarat, 390002, India., Soraisham R; Department of Dermatology, Venereology and Leprology, Regional Institute of Medical Sciences, Imphal, Manipur, 795004, India., Yadav R; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Devi YS; CSIR- North East Institute of Science and Technology, Jorhat, Assam, 785006, India., Gupta A; Department of Dermatology, Dr. D.Y. Patil Medical College, Pune, Maharashtra, 411018, India., Mukerji M; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Ramalingam S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., B K B; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India., Scaria V; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India. vinods@igib.in.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India. vinods@igib.in., Sivasubbu S; CSIR-Institute of Genomics and Integrative Biology, New Delhi, 110025, India. sridhar@igib.in.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, Uttar Pradesh, 201002, India. sridhar@igib.in.
Jazyk:	angličtina
Zdroj:	Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2021 Dec 14; Vol. 19 (1), pp. 183. Date of Electronic Publication: 2021 Dec 14.
DOI:	10.1186/s43141-021-00268-2
Abstrakt:	Background: Autoinflammatory disorders are the group of inherited inflammatory disorders caused due to the genetic defect in the genes that regulates innate immune systems. These have been clinically characterized based on the duration and occurrence of unprovoked fever, skin rash, and patient's ancestry. There are several autoinflammatory disorders that are found to be prevalent in a specific population and whose disease genetic epidemiology within the population has been well understood. However, India has a limited number of genetic studies reported for autoinflammatory disorders till date. The whole genome sequencing and analysis of 1029 Indian individuals performed under the IndiGen project persuaded us to perform the genetic epidemiology of the autoinflammatory disorders in India. 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. (© 2021. The Author(s).)
Databáze:	MEDLINE
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