Molecular Genetics and Genomics

, Volume 295, Issue 1, pp 1–12 | Cite as

Single nucleotide polymorphisms in piRNA-pathway genes: an insight into genetic determinants of human diseases

  • Jyoti Roy
  • Kalyani Anand
  • Swati Mohapatra
  • Rojalin Nayak
  • Trisha Chattopadhyay
  • Bibekanand MallickEmail author


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.


piRNA PIWIL SNPs Genetic variation Diseases 



This work was supported by Department of Biotechnology, Govt. of India (BT/PR21128/MED/30/1756/2016), awarded to B.M.

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animal performed by any of the authors.


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© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.RNAi and Functional Genomics Lab, Department of Life ScienceNational Institute of TechnologyRourkelaIndia
  2. 2.Department of Life ZoologyUniversity of Madras, Guindy CampusChennaiIndia
  3. 3.The University of Texas M. D. Anderson Cancer CenterHoustonUSA

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