Certain haplotypes of the 3′-UTR region of the HLA-G gene are linked to breast cancer

ABSTRACT

Background: Human leukocyte antigen G belongs to the family of non-classical HLA class I genes, its expression considered an important immune escape mechanism of cancer cells. The polymorphisms in the 3ʹ-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 3ʹ-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.

KEYWORDS:

• HLA-G
• 3'-UTR
• haplotype
• breast cancer

Disclosure statement

No potential conflict of interest was reported by the authors.