Background: Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence
of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in
north Indian tertiary care centers.
Objective: In this article, we deliberate on the possible causes associated with CPC bringing the
manifestation of the disease. In addition, we throw insights on the effective role of this congenital
anomaly in Colon and provide systems genomic evaluation by comparing our recent analysis to
that of Colon and Ileum based on Next-Generation Sequencing (NGS) studies.
Conclusion: In this commentary article, we argue that a host of epigenetic factors could be the reason
why the disease is manifested in colon alone. We further hypothesize on the few unmet challenges
linking epigenetics to understand the genetic variants.