Certain haplotype of the 3'-UTR region of the HLA-G gene are linked to breast cancer.

Background Human leukocyte antigen G belongs to the family of non-classical HLA class I genes, its expression is considered an important immune escape mechanism of cancer cells. The polymorphisms in the 3'-3'-untranslated region (UTR) region of HLA-G influence the magnitude of the protein by modulating HLA-G mRNA stability. We hypothesised links between any of eight (UTR) single nucleotide polymorphisms (SNPs) and their haplotype of the HLA-G gene with breast cancer. Materials and methods Peripheral blood DNA from 100 patients affected by breast cancer and 100 controls was PCR sequenced for genotyping of 25 HLA-G 3'-UTR regions, including rs371194629 (+2960), rs1707 (+3003), rs1710 (+3010), rs17179101 (+3027), rs1063320 (+3142), rs9380142 (+3187), rs1610696 (+3196), and rs1233331(+3227). Results The 14-bp deletion (p=0.01), and the +3010 (p=0.021), +3142 (p=0.006) and +3187 (p=0.046) variants were significantly more prevalent in patients than in controls. In combining these data, two haplotypes of all eight SNPs and deletion/insertion (UTR-1 and UTR-4) are associated with breast cancer. Conclusion Certain variants in the 3-UTR, and their combination as a haplotype, of the HLA-G gene are linked to breast cancer.