The Genetic Landscape of Familial Hypercholesterolemia in Telangana, Southern India: Novel Mutations and Clinical Implications
These findings highlight the genetic heterogeneity of FH and emphasize the importance of identifying novel pathogenic variants. Moreover, the study underscores the role of moderate-impact variants in FH susceptibility. Overall, this research enhances our understanding of the genetic landscape of FH in the Indian population, with implications for improved diagnosis, risk assessment, and personalized management.
Authors
- Kishore Yadav
- Varatharajan Sakthivadivel (ORCID: https://orcid.org/0000-0002-5691-670X)
- Ariyanachi Kaliappan
- Sailu Yellaboina (ORCID: https://orcid.org/0000-0002-5851-3824)
- Rohit Saluja
- Supriya Garapati
Institutions
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Cureus
- Published
- 2025-12-12
- DOI
- https://doi.org/10.7759/cureus.99069
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Regional Centre for Biotechnology
- Department of Biotechnology, Ministry of Science and Technology, India
- All-India Institute of Medical Sciences