Publications by authors named "Sandhya Kiran Pemmasani"

Article Synopsis
  • Genetic factors significantly influence how long individuals live, and this study focuses on identifying these genetic variants in the Indian population by comparing individuals aged 85+ (long living individuals, LLIs) with younger controls aged 18-49.
  • The research utilized a custom chip for genetic data, revealing 9 variants linked to longevity, with certain alleles associated with positive traits like slower heart rate and lower risks for various disorders being more common in LLIs, while other risky alleles were less frequent.
  • The study also found that genes related to oxidative stress, DNA repair, and metabolism play important roles in healthy aging and longevity, confirming the genetic basis for these traits in the population.
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Genome-wide polygenic risk scores (PRS) for lifestyle disorders, like Type 2 Diabetes (T2D), are useful in identifying at-risk individuals early on in life, and to guide them towards healthier lifestyles. The current study was aimed at developing PRS for the Indian population using imputed genotype data from UK Biobank and testing the developed PRS on data from GenomegaDB of Indians living in India. 959 T2D cases and 2,818 controls were selected from Indian participants of UK Biobank to develop the PRS.

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Today, genomic data holds great potential to improve healthcare strategies across various dimensions - be it disease prevention, enhanced diagnosis, or optimized treatment. The biggest hurdle faced by the medical and research community in India is the lack of genotype-phenotype correlations for Indians at a population-wide and an individual level. This leads to inefficient translation of genomic information during clinical decision making.

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Introduction: The adiponectin gene, , encodes an adipocytokine, known as adiponectin hormone. This hormone is known to be associated with insulin sensitization, fat metabolism, immunity, and inflammatory response. Polymorphisms in gene lower the adiponectin levels, increasing the risk for diabetes and cardiovascular diseases.

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The wild-type p53-induced phosphatase 1 (WIP1) is a serine/threonine phosphatase that negatively regulates multiple proteins involved in DNA damage response including p53, CHK2, Histone H2AX, and ATM, and it has been shown to be overexpressed or amplified in human cancers including breast and ovarian cancers. We examined WIP1 mRNA levels across multiple tumor types and found the highest levels in breast cancer, leukemia, medulloblastoma and neuroblastoma. Neuroblastoma is an exclusively TP53 wild type tumor at diagnosis and inhibition of p53 is required for tumorigenesis.

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