Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches

Abstract Background Obesity is a major global health concern closely linked to various disorders related to metabolism. Ayurveda, a traditional Indian system of medicine, categorizes individuals into three Prakriti types, Vata, Pitta, and Kapha, based on their physiological and psychological traits....

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Main Authors: Manoranjani Murugan, Sourav Musib, Yogesh Vetriselvan, Ilangovan Karthiga, Artchoudane Soccalingam, Melissa Shaelyn Samuel, Irisappan Ganesh, Sambandam Ravikumar
Format: Article
Language:English
Published: SpringerOpen 2025-05-01
Series:Egyptian Journal of Medical Human Genetics
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Online Access:https://doi.org/10.1186/s43042-025-00724-5
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author Manoranjani Murugan
Sourav Musib
Yogesh Vetriselvan
Ilangovan Karthiga
Artchoudane Soccalingam
Melissa Shaelyn Samuel
Irisappan Ganesh
Sambandam Ravikumar
author_facet Manoranjani Murugan
Sourav Musib
Yogesh Vetriselvan
Ilangovan Karthiga
Artchoudane Soccalingam
Melissa Shaelyn Samuel
Irisappan Ganesh
Sambandam Ravikumar
author_sort Manoranjani Murugan
collection DOAJ
description Abstract Background Obesity is a major global health concern closely linked to various disorders related to metabolism. Ayurveda, a traditional Indian system of medicine, categorizes individuals into three Prakriti types, Vata, Pitta, and Kapha, based on their physiological and psychological traits. This study investigates the relationship between the rs1137101 (Q223R) polymorphism and obesity, exploring the connection through Prakriti, which integrates genomic data with traditional health concepts. Methods The study included 300 participants selected based on their responses to the questionnaire and an Ayurvedic consultation. Blood samples were collected from these individuals, and DNA was extracted and analyzed for the rs1137101 variation using the PCR–RFLP method. Principal component analysis (PCA) was used to examine clustering patterns among Prakriti, genetic variants, and body composition. Additionally, the pathogenicity of the Q223R variant was evaluated using computational tools such as PANTHER, PhD-SNP, SIFT, SNAP, META-SNP, I-Mutant 2.0, MUpro, and iStable, employing sequence- and structure-based methods. Results The prevalence of the risk allele G was 50% in the obese group, compared to 38% in the normal group. PCA indicated that Kapha Prakriti is linked to the obese group, whereas Pitta and Vata correspond to the normal group. Genotype clustering revealed that the AG genotype is associated with both Kapha and Pitta, and the AA genotype is related to all three Prakriti types. In contrast, the GG genotype lacks a distinct connection. This suggests that rs1137101 polymorphism influences metabolic profiles variably across different constitutional types. Our research identified a statistically significant association between Kapha Prakriti and obesity (p-value < 0.01). Furthermore, in silico analyses revealed that alterations in the amino acids of the leptin receptor are pathogenic and decreased protein stability. Conclusion This study suggests that the rs1137101 polymorphism in the leptin receptor gene is a notable risk factor for obesity among individuals with Kapha Prakriti. The in silico findings indicate that the Q223R variant is pathogenic, as it destabilizes protein structures and impairs leptin receptor activity. Our study shows how Prakriti classification combines with a genetic risk assessment to demonstrate ayurgenomics’ role in personalized obesity management.
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spelling doaj-art-30d9bc1d5b5947389fc59c3622ad7d7c2025-08-20T02:03:31ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-05-0126111310.1186/s43042-025-00724-5Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approachesManoranjani Murugan0Sourav Musib1Yogesh Vetriselvan2Ilangovan Karthiga3Artchoudane Soccalingam4Melissa Shaelyn Samuel5Irisappan Ganesh6Sambandam Ravikumar7Department of Medical Biotechnology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Department of Medical Biotechnology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Department of Medical Biotechnology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Department of Biochemistry, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Center for Yogic Sciences, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Saveetha Medical College and HospitalDepartment of Medical Biotechnology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Department of Medical Biotechnology, Aarupadai Veedu Medical College and Hospital, Vinayaka Mission’s Research Foundation (Deemed to Be University)Abstract Background Obesity is a major global health concern closely linked to various disorders related to metabolism. Ayurveda, a traditional Indian system of medicine, categorizes individuals into three Prakriti types, Vata, Pitta, and Kapha, based on their physiological and psychological traits. This study investigates the relationship between the rs1137101 (Q223R) polymorphism and obesity, exploring the connection through Prakriti, which integrates genomic data with traditional health concepts. Methods The study included 300 participants selected based on their responses to the questionnaire and an Ayurvedic consultation. Blood samples were collected from these individuals, and DNA was extracted and analyzed for the rs1137101 variation using the PCR–RFLP method. Principal component analysis (PCA) was used to examine clustering patterns among Prakriti, genetic variants, and body composition. Additionally, the pathogenicity of the Q223R variant was evaluated using computational tools such as PANTHER, PhD-SNP, SIFT, SNAP, META-SNP, I-Mutant 2.0, MUpro, and iStable, employing sequence- and structure-based methods. Results The prevalence of the risk allele G was 50% in the obese group, compared to 38% in the normal group. PCA indicated that Kapha Prakriti is linked to the obese group, whereas Pitta and Vata correspond to the normal group. Genotype clustering revealed that the AG genotype is associated with both Kapha and Pitta, and the AA genotype is related to all three Prakriti types. In contrast, the GG genotype lacks a distinct connection. This suggests that rs1137101 polymorphism influences metabolic profiles variably across different constitutional types. Our research identified a statistically significant association between Kapha Prakriti and obesity (p-value < 0.01). Furthermore, in silico analyses revealed that alterations in the amino acids of the leptin receptor are pathogenic and decreased protein stability. Conclusion This study suggests that the rs1137101 polymorphism in the leptin receptor gene is a notable risk factor for obesity among individuals with Kapha Prakriti. The in silico findings indicate that the Q223R variant is pathogenic, as it destabilizes protein structures and impairs leptin receptor activity. Our study shows how Prakriti classification combines with a genetic risk assessment to demonstrate ayurgenomics’ role in personalized obesity management.https://doi.org/10.1186/s43042-025-00724-5ObesityLeptin receptorPrakritiGenetic variationPathogenetic prediction
spellingShingle Manoranjani Murugan
Sourav Musib
Yogesh Vetriselvan
Ilangovan Karthiga
Artchoudane Soccalingam
Melissa Shaelyn Samuel
Irisappan Ganesh
Sambandam Ravikumar
Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
Egyptian Journal of Medical Human Genetics
Obesity
Leptin receptor
Prakriti
Genetic variation
Pathogenetic prediction
title Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
title_full Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
title_fullStr Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
title_full_unstemmed Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
title_short Genetic variants of leptin receptor gene (rs1137101) and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
title_sort genetic variants of leptin receptor gene rs1137101 and obesity risk in prakriti individuals and its pathogenicity prediction using in silico approaches
topic Obesity
Leptin receptor
Prakriti
Genetic variation
Pathogenetic prediction
url https://doi.org/10.1186/s43042-025-00724-5
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