Kundu Arpita, Ramakrishnan Parvathy, Rajendran Ambika, Dharwar Nivedita V, Anbarasu Anand
Bioinformatics Division, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India.
Int J Bioinform Res Appl. 2013;9(3):227-41. doi: 10.1504/IJBRA.2013.053604.
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.
我们已经确定了PLD2基因的非同义单核苷酸多态性（nsSNPs）及其在不同人群中的变异情况，以了解其在高血压中的作用。在350个单核苷酸多态性中，发现有6个是非同义的，其中2个显示出显著的有害影响以及单核苷酸多态性变异性，在不同人群中观察到的次要等位基因频率（MAF）存在很大差异。rs2286672的氨基酸变化是从精氨酸变为半胱氨酸，即从含胍基的最大氨基酸变为含巯基的小氨基酸，而rs3764897的变化是从甘氨酸变为丝氨酸，即从疏水氨基酸变为亲水氨基酸。因此，由于这些单核苷酸多态性导致氨基酸残基的侧链和极性发生完全变化，蛋白质的结构可能会改变，进而功能可能会受到影响，导致血压失调。
