储袋是否特定于结肠而非回肠？
Is Pouch Specific to Colon and Not Ileum?
作者信息
Gupta Sonal, Tiwari Pradeep, Gupta Nidhi, Nunia Vandana, Saxena Amulya K, Simlot Anita, Kothari Shanker Lal, Suravajhala Prashanth, Medicherla Krishna Mohan, Mathur Praveen
机构信息
Department of Biotechnology and Bioinformatics, Birla Institute of Scientific Research, Jaipur 302001, RJ, India.
Department of Biotechnology, Amity University Rajasthan, Jaipur 303002 RJ, India.
出版信息
Curr Pediatr Rev. 2019;15(4):259-264. doi: 10.2174/1573396315666190829155930.
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.
背景
先天性袋状结肠（CPC）是一种肛门直肠畸形，男性和女性的发病率分别为3.5:1。我们之前曾报道CPC在印度北部的三级护理中心相当普遍。
目的
在本文中，我们探讨与CPC导致该疾病表现相关的可能原因。此外，我们深入分析这种先天性异常在结肠中的有效作用，并通过将我们最近基于下一代测序（NGS）研究的分析与结肠和回肠的分析进行比较，提供系统基因组评估。
结论
在这篇评论文章中，我们认为一系列表观遗传因素可能是该疾病仅在结肠中表现的原因。我们进一步就将表观遗传学与理解基因变异联系起来的一些未解决挑战提出假设。
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