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Maiti, GP and Ghosh, A and Mondal, P and Baral, A and Datta, S and Samadder, S and Nayak, SP and Chakrabarti, J and Biswas, J and Sikdar, N and Chowdhury, S and Roy, B and Roychowdhury, S and Panda, CK (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 Act. pp. 1059-1067.

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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:NG/T) that showed only heterozygosity was 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
Subjects: Neurodegenerative Disorders
Neuro-Oncological Disorders
Neurocognitive Processes
Neuronal Development and Regeneration
Informatics and Imaging
Genetics and Molecular Biology
Depositing User: Dr. D.D. Lal
Date Deposited: 17 Sep 2018 04:09
Last Modified: 17 Sep 2018 04:09
URI: http://nbrc.sciencecentral.in/id/eprint/462

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