Title: Analysis of non-synonymous single-nucleotide polymorphisms and population variability of PLD2 gene associated with hypertension

Authors: Arpita Kundu; Parvathy Ramakrishnan; Ambika Rajendran; Nivedita V. Dharwar; Anand Anbarasu

Addresses: Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India ' Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India ' Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India ' Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India ' Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India

Abstract: We have determined the non-synonymous Single-Nucleotide Polymorphisms (nsSNPs) of PLD2 gene and its variations in different populations to understand its role in hypertension. Out of 350 SNPs, six are found to be non-synonymous, of which two showed significant damaging effect and SNP variability with large differences among the Minor Allele Frequency (MAF) observed in various populations. The amino acid change found for rs2286672 is from arginine to cysteine, i.e., from largest amino acid containing guanidino group to a small amino acid containing sulfhydryl group, and for rs3764897, it is from glycine to serine, i.e., from a hydrophobic amino acid to a hydrophilic amino acid. Hence, owing to the complete change in side chains and polarity of the amino acid residues brought about by these SNPs, the structure of the protein might be altered and hence the function might be affected, leading to dysregulation of blood pressure.

Keywords: bioinformatics research; hypertension; nsSNP; non-synonymous SNPs; SNP variability; PLD2 genes; rs2286672; rs3764897; arginine; cysteine; glycine; serine; single-nucleotide polymorphisms; population variability; amino acid changes; blood pressure dysregulation; protein structure.

DOI: 10.1504/IJBRA.2013.053604

International Journal of Bioinformatics Research and Applications, 2013 Vol.9 No.3, pp.227 - 241

Received: 24 Mar 2011
Accepted: 02 May 2011
Published online: 06 Sep 2014 *

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