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.

Association of the HLA-G 3′UTR polymorphisms with colorectal cancer in Italy: A first insight

Nobili S.;
2016-01-01

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11564/737184
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