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Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine
Precision medicine aims to move from traditional reactive medicine to a system where risk groups can be identified before the disease occurs. However, phenotypic heterogeneity amongst the diseased and healthy poses a major challenge for identification markers for risk stratification and early action...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8952204/ https://www.ncbi.nlm.nih.gov/pubmed/35330488 http://dx.doi.org/10.3390/jpm12030489 |
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author | Abbas, Tahseen Chaturvedi, Gaura Prakrithi, P. Pathak, Ankit Kumar Kutum, Rintu Dakle, Pushkar Narang, Ankita Manchanda, Vijeta Patil, Rutuja Aggarwal, Dhiraj Girase, Bhushan Srivastava, Ankita Kapoor, Manav Gupta, Ishaan Pandey, Rajesh Juvekar, Sanjay Dash, Debasis Mukerji, Mitali Prasher, Bhavana |
author_facet | Abbas, Tahseen Chaturvedi, Gaura Prakrithi, P. Pathak, Ankit Kumar Kutum, Rintu Dakle, Pushkar Narang, Ankita Manchanda, Vijeta Patil, Rutuja Aggarwal, Dhiraj Girase, Bhushan Srivastava, Ankita Kapoor, Manav Gupta, Ishaan Pandey, Rajesh Juvekar, Sanjay Dash, Debasis Mukerji, Mitali Prasher, Bhavana |
author_sort | Abbas, Tahseen |
collection | PubMed |
description | Precision medicine aims to move from traditional reactive medicine to a system where risk groups can be identified before the disease occurs. However, phenotypic heterogeneity amongst the diseased and healthy poses a major challenge for identification markers for risk stratification and early actionable interventions. In Ayurveda, individuals are phenotypically stratified into seven constitution types based on multisystem phenotypes termed “Prakriti”. It enables the prediction of health and disease trajectories and the selection of health interventions. We hypothesize that exome sequencing in healthy individuals of phenotypically homogeneous Prakriti types might enable the identification of functional variations associated with the constitution types. Exomes of 144 healthy Prakriti stratified individuals and controls from two genetically homogeneous cohorts (north and western India) revealed differential risk for diseases/traits like metabolic disorders, liver diseases, and body and hematological measurements amongst healthy individuals. These SNPs differ significantly from the Indo-European background control as well. Amongst these we highlight novel SNPs rs304447 (IFIT5) and rs941590 (SERPINA10) that could explain differential trajectories for immune response, bleeding or thrombosis. Our method demonstrates the requirement of a relatively smaller sample size for a well powered study. This study highlights the potential of integrating a unique phenotyping approach for the identification of predictive markers and the at-risk population amongst the healthy. |
format | Online Article Text |
id | pubmed-8952204 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-89522042022-03-26 Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine Abbas, Tahseen Chaturvedi, Gaura Prakrithi, P. Pathak, Ankit Kumar Kutum, Rintu Dakle, Pushkar Narang, Ankita Manchanda, Vijeta Patil, Rutuja Aggarwal, Dhiraj Girase, Bhushan Srivastava, Ankita Kapoor, Manav Gupta, Ishaan Pandey, Rajesh Juvekar, Sanjay Dash, Debasis Mukerji, Mitali Prasher, Bhavana J Pers Med Article Precision medicine aims to move from traditional reactive medicine to a system where risk groups can be identified before the disease occurs. However, phenotypic heterogeneity amongst the diseased and healthy poses a major challenge for identification markers for risk stratification and early actionable interventions. In Ayurveda, individuals are phenotypically stratified into seven constitution types based on multisystem phenotypes termed “Prakriti”. It enables the prediction of health and disease trajectories and the selection of health interventions. We hypothesize that exome sequencing in healthy individuals of phenotypically homogeneous Prakriti types might enable the identification of functional variations associated with the constitution types. Exomes of 144 healthy Prakriti stratified individuals and controls from two genetically homogeneous cohorts (north and western India) revealed differential risk for diseases/traits like metabolic disorders, liver diseases, and body and hematological measurements amongst healthy individuals. These SNPs differ significantly from the Indo-European background control as well. Amongst these we highlight novel SNPs rs304447 (IFIT5) and rs941590 (SERPINA10) that could explain differential trajectories for immune response, bleeding or thrombosis. Our method demonstrates the requirement of a relatively smaller sample size for a well powered study. This study highlights the potential of integrating a unique phenotyping approach for the identification of predictive markers and the at-risk population amongst the healthy. MDPI 2022-03-18 /pmc/articles/PMC8952204/ /pubmed/35330488 http://dx.doi.org/10.3390/jpm12030489 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Abbas, Tahseen Chaturvedi, Gaura Prakrithi, P. Pathak, Ankit Kumar Kutum, Rintu Dakle, Pushkar Narang, Ankita Manchanda, Vijeta Patil, Rutuja Aggarwal, Dhiraj Girase, Bhushan Srivastava, Ankita Kapoor, Manav Gupta, Ishaan Pandey, Rajesh Juvekar, Sanjay Dash, Debasis Mukerji, Mitali Prasher, Bhavana Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine |
title | Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine |
title_full | Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine |
title_fullStr | Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine |
title_full_unstemmed | Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine |
title_short | Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine |
title_sort | whole exome sequencing in healthy individuals of extreme constitution types reveals differential disease risk: a novel approach towards predictive medicine |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8952204/ https://www.ncbi.nlm.nih.gov/pubmed/35330488 http://dx.doi.org/10.3390/jpm12030489 |
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