Abstract
The purpose of this study was to test the association between human 8-oxoguanine glycosylase 1 (
hOGG1
) gene polymorphisms and susceptibility to breast cancer in Saudi population. We have also aimed to screen the
hOGG1
Ser326Cys polymorphism effect on structural and functional properties of the
hOGG1
protein using in silico tools. We have analyzed four SNPs of
hOGG1
gene among Saudi breast cancer patients along with healthy controls. Genotypes were screened using TaqMan SNP genotype analysis method. Experimental data was analyzed using Chi-square, t test and logistic regression analysis using SPSS software (v.16). In silco analysis was conducted using discovery studio and HOPE program. Genotypic analysis showed that
hOGG1
rs1052133 (Ser326Cys) is significantly associated with breast cancer samples in Saudi population, however rs293795 (T >C), rs2072668 (C>G) and rs2075747 (G >A) did not show any association with breast cancer. The
hOGG1
SNP rs1052133 (Ser326Cys) minor allele T showed a significant association with breast cancer samples (OR = 1.78, χ2 = 7.86, p = 0.02024). In silico structural analysis was carried out to compare the wild type (Ser326) and mutant (Cys326) protein structures. The structural prediction studies revealed that Ser326Cys variant may destabilize the protein structure and it may disturb the
hOGG1
function. Taken together this is the first In silico study report to confirm Ser326Cys variant effect on structural and functional properties of
hOGG1
gene and Ser326Cys role in breast cancer susceptibility in Saudi population.