| Summary: | <p>Abstract</p> <p>Background</p> <p>The host immunogenetic background plays an important role in the development of breast cancer. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a molecule expressed predominantly on activated T cells and is important during the down-regulation of T-cell activation. To evaluate the potential influences of <it>CTLA-4 </it>gene polymorphisms on breast cancer risk, a case-control study was conducted in Han women of Northeast China.</p> <p>Methods</p> <p>We genotyped <it>CTLA-4 </it>variants (-1661 G/A, -658 T/C, -318 T/C, +49 G/A and CT60 G/A) to tag all common haplotypes (≥ 1% frequency) in 117 Chinese breast cancer cases and 148 age/sex matched healthy individuals. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Data was analyzed using the Chi-square test and Haploview software.</p> <p>Results</p> <p>The frequency of <it>CTLA-4 </it>-1661G allele, -318T allele and CT60G allele carriers was significantly higher in patients than in controls (<it>P </it>= 0.0057, OR 1.91, 95% CI 1.21–3.02; <it>P </it>= 0.0031, OR 2.39, 95% CI 1.34–4.27; <it>P </it>= 0.023, OR 1.52, 95% CI 1.06–2.17, respectively). The -658T allele carrier frequency was significantly lower than in controls (<it>P </it>= 0.0000082, OR 0.17, 95% CI 0.08–0.37), whereas the +49A allele was significantly associated with tumor size in patients (<it>P </it>= 0.0033). Two common <it>CTLA-4 </it>haplotypes, ATCGA and ATCAG, were higher in healthy controls than patients (<it>P </it>= 0.0026, OR 0.17, 95% CI 0.05–0.54; <it>P </it>= 0.034, OR 0.12, 95% CI 0.02–0.92, respectively). A strong association was observed between tumor size and the ACCAA, ACCAG and ACCGA haplotypes (<it>P </it>= 0.0032, <it>P </it>= 0.0000031 and <it>P </it>= 0.017).</p> <p>Conclusion</p> <p>These results suggest that polymorphisms of the <it>CTLA-4 </it>gene may modify individual susceptibility to and progression of breast cancer in Chinese Han women.</p>
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