title: Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example.
abstract: 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.
authors.affiliation: Department of Urology, Wuhan General Hospital, Guangzhou Command PLA, China.
authors.forename: Gongcheng
authors.initials: G
authors.lastname: Li
authors.affiliation: Department of Urology, Wuhan General Hospital, Guangzhou Command PLA, China.
authors.forename: Tiejun
authors.initials: T
authors.lastname: Pan
authors.affiliation: Molecular Medicine Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Dan
authors.initials: D
authors.lastname: Guo
authors.affiliation: Molecular Medicine Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China ; Department of Urology, University of California San Francisco, San Francisco, CA 94158, USA.
authors.forename: Long-Cheng
authors.identifier: 0000-0002-3971-6335
authors.initials: LC
authors.lastname: Li