Maiti, Guru Prasad ; Ghosh, Amlan ; Mondal, Pinaki ; Baral, Aradhita ; Datta, Sayantan ; Samadder, Sudip ; Nayak, Sandeep P. ; Chakrabarti, Jayanta ; Biswas, Jaydeep ; Sikdar, Nilabja ; Chowdhury, Shantanu ; Roy, Bidyut ; Roychowdhury, Susanta ; Panda, Chinmay Kumar (2015) SNP rs1049430 in the 3'-UTR of SH3GL2 regulates its expression: clinical and prognostic implications in head and neck squamous cell carcinoma Biochimica et Biophysica Acta (BBA)-Protein Structure and Molecular Enzymology, 1852 (5). pp. 1059-1067. ISSN 0167-4838
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Official URL: http://www.sciencedirect.com/science/article/pii/S...
Related URL: http://dx.doi.org/10.1016/j.bbadis.2015.02.009
Abstract
Single Nucleotide Polymorphisms (SNPs) in the 3′-UTR region are emerging cis-regulatory factors associated with the occurrences of several human diseases. SH3GL2, which is located at chromosome 9p21-22, is associated with hyperplastic/mildly dysplastic lesions of the head and neck and has a long 3′-UTR with multiple SNPs. The aim of the present study was to determine the susceptible allele(s) in the 3′-UTR SNPs of SH3GL2 in Head and Neck Squamous Cell Carcinoma (HNSCC). First, we screened the genotypes of all SNPs located in the 3′-UTR of SH3GL2 in 110 controls and 147 cases in Indian populations by sequencing. A SNP (rs1049430:> G/T) that showed only heterozygosity were further confirmed by genotyping with an Illumina GoldenGate platform in 530 controls and 764 cases. Genotype-specific survival analysis of the HNSCC patients was performed. In addition, genotype-specific mRNA stability, isoform expression and protein expression were analyzed. SNP rs1049430 was not associated with disease occurrence, but it was associated with poor patient outcome. The G allele was associated with decreased SH3GL2 mRNA stability, differential splicing and low protein expression. Thus, our data demonstrate that the presence of the susceptible G allele in SNP rs1049430 is associated with the inactivation of SH3GL2 and could be used as a prognostic marker of HNSCC.
Item Type: | Article |
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Source: | Copyright of this article belongs to Elsevier Science. |
Keywords: | 3′-UTR; Allele-specific ISOForm; HNSCC; rs1049430; SH3GL2 |
ID Code: | 100859 |
Deposited On: | 14 Dec 2016 07:34 |
Last Modified: | 14 Dec 2016 07:34 |
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