Abstract
With the development of advanced high-throughput genotyping technologies, there has been a dramatic improvement in identifying millions of single nucleotide polymorphisms (SNPs) across the human genome. SNPs located within the genes involved in biogenesis and function of small regulatory RNAs such as PIWI-interacting RNAs (piRNAs) can alter physiological processes by affecting gene expression. The genetic variations within PIWI genes and their associated factors such as TDRDs, EIFs, and KIF17 etc. have shown significant association with dreadful human diseases such as Alzheimer’s disease, cancer, and schizophrenia. In this review, we have attempted to survey and summarize the association of all the genetic variants reported in different piRNA-pathway genes with diseases and discern their potential in clinical manifestations which will serve as a cornerstone for subsequent studies to decrypt the molecular mechanisms of SNPs in developing diseases.
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This work was supported by Department of Biotechnology, Govt. of India (BT/PR21128/MED/30/1756/2016), awarded to B.M.
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Roy, J., Anand, K., Mohapatra, S. et al. Single nucleotide polymorphisms in piRNA-pathway genes: an insight into genetic determinants of human diseases. Mol Genet Genomics 295, 1–12 (2020). https://doi.org/10.1007/s00438-019-01612-5
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DOI: https://doi.org/10.1007/s00438-019-01612-5