Publications by authors named "Ishani Mhatre"
Article Synopsis
- Periodontitis is a common inflammatory disease that damages gum tissue and is linked to a higher risk of cardiovascular disease (CVD).
- Precision medicine aims to personalize treatment based on individual genetics and lifestyles, which could improve care for complex diseases like periodontitis.
- The article reviews recent research on genes related to both periodontitis and CVD, identifying 51 such genes, to better understand their connection and support targeted therapies.
Genome-wide association studies (GWAS) have been instrumental in elucidating the genetic architecture of various traits and diseases. Despite the success of GWAS, inherent limitations such as identifying rare and ultra-rare variants, the potential for spurious associations, and in pinpointing causative agents can undermine diagnostic capabilities. This review provides an overview of GWAS and highlights recent advances in genetics that employ a range of methodologies, including Whole Genome Sequencing (WGS), Mendelian Randomization (MR), the Pangenome's high-quality T2T-CHM13 panel, and the Human BioMolecular Atlas Program (HuBMAP), as potential enablers of current and future GWAS research.
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- Cardiovascular disease (CVD) involves various heritable conditions, and identifying specific genes can help in early diagnosis and tailored treatments, particularly for heart failure (HF), which has a high mortality rate.
- The study involved analyzing gene mutations in a cohort of 35 patients by sequencing their whole genomes and focusing on mutation types affecting CVD.
- Key findings included several significant genes (like HBA1, ACE, and LGALS3) linked to various genetic pathways and the observation that common mutation types were more prevalent in HF-related genes, with missense mutations showing substantial functional impacts.