title: Association of the HLA-G 3'UTR polymorphisms with colorectal cancer in Italy: a first insight.
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 +3092 G/T (EUR MAF = 0%). This is the first study showing associations between different polymorphisms in the HLA-G 3'UTR and colorectal cancer susceptibility.
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico (CRO), IRCCS, Aviano National Cancer Institute, Aviano, PN, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Garziera
authors.affiliation: Medical Science Department, University of Trieste, Trieste, TS, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Catamo
authors.affiliation: Medical Science Department, University of Trieste, Trieste, TS, Italy.|Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, TS, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico (CRO), IRCCS, Aviano National Cancer Institute, Aviano, PN, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Montico
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico (CRO), IRCCS, Aviano National Cancer Institute, Aviano, PN, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Cecchin
authors.affiliation: Medical Oncology Unit 1, Istituto Oncologico Veneto- IRCCS, Padua, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Lonardi
authors.affiliation: Section of Internal Medicine, Department of Experimental and Clinical Medicine, University of Florence, Firenze, FI, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Mini
authors.affiliation: Section of Clinical Pharmacology and Oncology, Department of Health Sciences, University of Florence, Firenze, FI, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Nobili
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico (CRO), IRCCS, Aviano National Cancer Institute, Aviano, PN, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Romanato
authors.affiliation: Experimental and Clinical Pharmacology Unit, Centro di Riferimento Oncologico (CRO), IRCCS, Aviano National Cancer Institute, Aviano, PN, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Toffoli
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D000368:Aged; D000483:Alleles; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059951:HLA-G Antigens / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D059951:HLA-G Antigens