Maiti, Guru Prasad and Ghosh, Amlan and Mondal, Pinaki and Baral, Aradhita and Datta, Sayantan and Samadder, Sudip and Nayak, Sandeep P and Chakrabarti, Jayanta and Biswas, Jaydeep and Sikdar, Nilabja and Choudhury, Shantanu and Roy, Bidyut and Roychowdhury, Susanta and 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 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:	21 Feb 2022 07:15
URI:	http://nbrc.sciencecentral.in/id/eprint/462

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