Table of Contents
Molecular Biology International
Volume 2014 (2014), Article ID 967565, 9 pages
Review Article

Regulatory Variants and Disease: The E-Cadherin −160C/A SNP as an Example

1Department of Urology, Wuhan General Hospital, Guangzhou Command PLA, China
2Molecular Medicine Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
3Department of Urology, University of California San Francisco, San Francisco, CA 94158, USA

Received 6 July 2014; Revised 23 August 2014; Accepted 25 August 2014; Published 2 September 2014

Academic Editor: Malayannan B. Subramaniam

Copyright © 2014 Gongcheng Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Single nucleotide polymorphisms (SNPs) occurring in noncoding sequences have largely been ignored in genome-wide association studies (GWAS). Yet, amounting evidence suggests that many noncoding SNPs especially those that are in the vicinity of protein coding genes play important roles in shaping chromatin structure and regulate gene expression and, as such, are implicated in a wide variety of diseases. One of such regulatory SNPs (rSNPs) is the E-cadherin (CDH1) promoter −160C/A SNP (rs16260) which is known to affect E-cadherin promoter transcription by displacing transcription factor binding and has been extensively scrutinized for its association with several diseases especially malignancies. Findings from studying this SNP highlight important clinical relevance of rSNPs and justify their inclusion in future GWAS to identify novel disease causing SNPs.