Abstract
This study aimed to explore functional and regulatory polymorphisms and haplotypes at the HLA-G 3′UTR region in colorectal cancer development. The presence of nonpolymorphic variants was also evaluated. Three-hundred and eight patients with colorectal cancer and 294 healthy controls were analysed at the germinal level. We found an association with increased risk of colorectal cancer for +2960 14-bp INDEL, +3196 C>G SNPs and UTR-2 haplotype, and a 'protective' role for +3003 T>C, +3010 C>G polymorphisms and UTR-4 haplotype. We detected in 3 distinct patients, a novel nucleotide change (+3037 C>A) and 2 already described rare variants, +3032 G/C (EUR MAF=0.1%) and +3092G/T (EUR MAF=0%). This is the first study showing associations between different polymorphisms in the HLA-G 3′UTR and colorectal cancer susceptibility.
Original language | English |
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Pages (from-to) | 32-39 |
Number of pages | 8 |
Journal | International Journal of Immunogenetics |
Volume | 43 |
Issue number | 1 |
DOIs | |
Publication status | Published - Feb 1 2016 |
ASJC Scopus subject areas
- Genetics
- Molecular Biology
- Immunology
- Genetics(clinical)