Genetic polymorphisms and hypertension in Indian populations: a systematic review and integrative bioinformatics approach
- 1Department of Biochemistry, SRM Medical College Hospital and Research Centre, Faculty of Medicine and Health Sciences, SRM Institute of Science and Technology, SRM Nagar
Abstract
Background Hypertension continues to be a major public health issue in India, with increasing incidence associated with both lifestyle factors and genetic susceptibility. Despite genome-wide association studies identifying several loci related with blood pressure worldwide, there is a paucity of integration of these findings within the genetically varied Indian setting. Objective This systematic review aims to compile current information on single-nucleotide polymorphisms linked to hypertension in Indian communities and to elucidate their biological significance by bioinformatics analysis. Methods Using PubMed, Scopus, Embase, and Google Scholar, we conducted a systematic review of studies from 2000 to 2025 following PRISMA guidelines. Two reviewers individually screened and extracted data from studies related to SNPs associated to hypertension in Indians. Study quality was assessed using Q-Genie Tool. Functional and pathway studies have been conducted by SNPnexus, Enrichr, STRING, and GTEx. Result Twenty-two SNPs across 14 genes were evaluated in Indian cohorts, with several variants showing statistically significant associations with hypertension in at least one included study, particularly within the renin–angiotensin–aldosterone, endothelial nitric oxide, and circadian pathways. Functional annotation identified MTHFR rs1801133 as potentially affecting protein function, while several coding and noncoding variants showed predicted functional or regulatory activity. Pathway analysis highlighted hormonal regulation, vasodilation, and nitric oxide biosynthesis. eQTL analysis showed tissue-specific effects in arteries and vascular cells. Conclusion This is the first systematic study of Indian hypertension using genetic association data and functional bioinformatics. The findings emphasize the relevance of ancestry-specific genomes and the necessity for large-scale, multi-ethnic investigations to guide Indian hypertension precision therapy.
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BibTeX
@article{sivakumar2026genetic,
title = {{Genetic polymorphisms and hypertension in Indian populations: a systematic review and integrative bioinformatics approach}},
author = {Rooban Sivakumar and Prasath N and Lakshmi Vijukumar and Arul Senghor K. A and Renuka P and Vinodhini V. M},
journal = {BMC Medical Genomics},
year = {2026},
month = jul,
doi = {10.1186/s12920-026-02437-z},
url = {https://doi.org/10.1186/s12920-026-02437-z},
note = {CC BY},
}
RIS
TY - JOUR
TI - Genetic polymorphisms and hypertension in Indian populations: a systematic review and integrative bioinformatics approach
AU - Rooban Sivakumar
AU - Prasath N
AU - Lakshmi Vijukumar
AU - Arul Senghor K. A
AU - Renuka P
AU - Vinodhini V. M
PY - 2026
DA - 2026/07/01
JO - BMC Medical Genomics
DO - 10.1186/s12920-026-02437-z
UR - https://doi.org/10.1186/s12920-026-02437-z
AB - Background Hypertension continues to be a major public health issue in India, with increasing incidence associated with both lifestyle factors and genetic susceptibility. Despite genome-wide association studies identifying several loci related with blood pressure worldwide, there is a paucity of integration of these findings within the genetically varied Indian setting. Objective This systematic review aims to compile current information on single-nucleotide polymorphisms linked to hypertension in Indian communities and to elucidate their biological significance by bioinformatics analysis. Methods Using PubMed, Scopus, Embase, and Google Scholar, we conducted a systematic review of studies from 2000 to 2025 following PRISMA guidelines. Two reviewers individually screened and extracted data from studies related to SNPs associated to hypertension in Indians. Study quality was assessed using Q-Genie Tool. Functional and pathway studies have been conducted by SNPnexus, Enrichr, STRING, and GTEx. Result Twenty-two SNPs across 14 genes were evaluated in Indian cohorts, with several variants showing statistically significant associations with hypertension in at least one included study, particularly within the renin–angiotensin–aldosterone, endothelial nitric oxide, and circadian pathways. Functional annotation identified MTHFR rs1801133 as potentially affecting protein function, while several coding and noncoding variants showed predicted functional or regulatory activity. Pathway analysis highlighted hormonal regulation, vasodilation, and nitric oxide biosynthesis. eQTL analysis showed tissue-specific effects in arteries and vascular cells. Conclusion This is the first systematic study of Indian hypertension using genetic association data and functional bioinformatics. The findings emphasize the relevance of ancestry-specific genomes and the necessity for large-scale, multi-ethnic investigations to guide Indian hypertension precision therapy.
SN - 1755-8794
ER -