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Strong Association of CTLA-4 Variation (CT60A/G) and CTLA-4 Haplotypes with Predisposition of Iranians to Head and Neck Cancer

Author(s): Nasrollah Erfani | Mohammad Reza Haghshenas | Mohammad Ali Hoseini | Seyed Basir Hashemi | Bijan Khademi | Abbas Ghaderi

Journal: Iranian Journal of Immunology
ISSN 1735-1383

Volume: 9;
Issue: 3;
Start page: 188;
Date: 2012;
Original page

Keywords: Genetic Marker | CTLA-4 | Haplotype | Head and Neck Cancer | Polymorphism | Squamous Cell Carcinoma

Background: Variations in Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) affect the expression and function of this protein. Objective: We aimed to investigate the associa-tion of +49 A/G (rs231775), +1822 C/T (rs231779) and +6230 A/G (CT60, rs3087243) genetic variations, as well as the merged haplotypes in CTLA-4 gene with susceptibility to, or progression of head and neck cancer. Methods: Eighty patients with confirmed head and neck (HN) cancer (age 54.9 ± 16.1 years) and 85 healthy age/sex-matched controls (age 56.3 ± 12.4 years) were enrolled in the study. Genotypes were investigated by the PCR-RFLP method. Arlequin software package was used to check for Hardy-Weinberg equilibration, and to estimate the haplotypes. Results: At position +6230 A/G (CT60), AA genotype, as well as A allele was significantly decreased in patients with HN cancers than controls (18.8% vs. 40.7%, p=0.004; odds ratio=0.34, and 46.3% vs. 61.7, p=0.007; odds ratio=0.53%, respectively). Nearly the same results were obtained when we compared the subgroup of patients with squamous cell carcinoma of the HN (SCC-HN) with control subjects. The frequencies of genotypes and alleles at other posi-tions were not significantly different between patients and controls, however ACG, GTA and GCA haplotypes emerged from three investigated loci occurred with signifi-cantly more frequencies in patients (p
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