Abstract
Human leukocyte antigen-G (HLA-G) has been associated with various immune diseases, including malignancies. The 14-base pair (bp) insertion/deletion (indel) polymorphism (rs16375) in exon 8 of the 3' untranslated region (3' UTR) of the HLA-G gene has been reported to influence HLA-G protein expression. We investigated the relationship between the 14-bp indel polymorphism and the occurrence of breast cancer in a Saudi population. The HLA-G 14-bp polymorphism was typed by PCR in 52 patients with breast cancer and 62 healthy control Saudi women. There was a highly significant association between the occurrence of breast cancer and the del allele (OR = 3.75; P < 0.001) and the del/del genotype (OR = 4.96; P < 0.001). Conversely, the 14-bp ins allele and ins/ins genotype exhibited protective effects against breast cancer (P < 0.00001). Remarkably, the genotype 14-bp ins/ins was missing among all patients. This is the first report showing a strong association between HLA-G 14-bp polymorphism and breast cancer in the Saudi population. The results are in agreement with previous reports showing similar association of HLA-G and breast cancer in other populations.