Human leukocyte antigen G (
HLA-G) is a non-classic major histocompatibility complex (
MHC) class I molecule that is highly expressed in
cancer pathologies. A 14-bp insertion/deletion polymorphism in exon 8 of the
3' untranslated region (3'-UTR) of the
HLA-G gene has been suggested to be associated with
HLA-G mRNA stability and the expression of
HLA-G. This study aimed to evaluate the association of 14-bp ins/del polymorphism in
HLA-G gene and
breast cancer in a south-east Iranian population. This study was performed using 236 patients with
breast cancer and 203 healthy subjects. We designed a rapid and simple bi-directional PCR allele-specific amplification (Bi-PASA) for detection of 14-bp ins/del polymorphism in the
HLA-G gene. The results of our study revealed that the prevalence of
HLA-G 14-bp homozygote deletion genotype was higher in
breast cancer patients than in the control group (OR=2.06, 95%CI=1.23-3.44, P=0.006). The frequency of the Del allele was 56.4% in
breast cancer patients and 46.5% in the control group and the difference was statistically significant (OR=1.48, 95%CI=1.13-1.94, P=0.004). Moreover we evaluated the possible correlation of the
HLA-G 14-bp ins/del genotypes and clinical characteristics of the patients, but no statistically significant correlation was found (P> 0.05). Our findings, for the first time, suggest that the 14-bp insertion/deletion polymorphism in
HLA-G gene could be a genetic risk factor for the susceptibility to
breast carcinoma. Further studies on larger populations with different ethnicities are required to verify our findings.