A Pathway Enrichment
Approach in deciphering the Genetic Basis of Vitamin D Insufficiency
Sravana Deepthi C., Ravikanth Eddula Venkata, Adiga Usha, Vasishta Sampara and Sindhu
B.S.
Res. J. Biotech.; Vol. 21(1); 132-142;
doi: https://doi.org/10.25303/211rjbt1320142; (2026)
Abstract
A number of skeletal and non-skeletal conditions are linked to vitamin D deficiency,
which is a major public health concern. Numerous genetic loci connected to the metabolism
and regulation of vitamin D have been found by genome-wide association studies (GWAS).
In order to identify possible indicators and treatment targets, this project will
examine GWAS data to identify genetic variations causing vitamin D insufficiency.
To find significant single nucleotide polymorphisms (SNPs) linked to vitamin D levels,
this study used data obtained from the GWAS collection. These genetic variations
were mapped to biological processes, such as immune regulation, metabolism and vitamin
D production, using enrichment analysis. To evaluate their functional implications,
interactions between the discovered genes and regulatory elements including transcription
factors and miRNAs were also investigated. Vitamin D deficiency was substantially
linked to important genetic loci, such as NADSYN1. Pathways pertaining to immunological
modulation, mitochondrial activity and lipid metabolism were identified using enrichment
analysis. Numerous miRNAs have been found to be putative regulators of genes related
to the synthesis and metabolism of vitamin D. These results point to new molecular
targets for more research and point to a hereditary basis for vitamin D deficiency.
In order to help with risk stratification, tailored prevention and therapeutic targeting
for better public health interventions, this work uses a secondary bioinformatics
analysis of GWAS data from Wang et al16 to find genetic variations associated with
vitamin D deficiency.
