Sequencing of DC-SIGN promoter indicates an association between promoter variation and risk of nasopharyngeal carcinoma in cantonese

• Main Authors: Liu Wen-Sheng, Dong Ju-Qin, Liu Wan-Li, Xu Ya-Fei, Feng Qi-Sheng, Chen Li-Zhen, Zeng Yi-Xin, Zeng Mu-Sheng, Jia Wei-Hua
• Format: Article
• Language: English
• Published: BMC 2010-11-01
• Series: BMC Medical Genetics
• Online Access: http://www.biomedcentral.com/1471-2350/11/161
• ISSN: 1471-2350

<p>Abstract</p> <p>Background</p> <p>The dendritic cell-specific intercellular adhesion molecule 3 grabbing non-integrin (<it>DC-SIGN</it>) is an important pathogen recognition receptor of the innate immune system. <it>DC-SIGN </it>promoter variants play important role in the susceptibility to various infectious diseases. Nasopharyngeal carcinoma (NPC) is a malignancy that is common in southern China and whether <it>DC-SIGN </it>promoter variants have effects on susceptibility to NPC is still unknown. The aim of this study is to ascertain the potential involvement of <it>DC-SIGN </it>promoter single nucleotide polymorphisms (SNPs) in NPC susceptibility.</p> <p>Methods</p> <p>We conducted a case control study based on Cantonese population including 444 NPC patients and 464 controls matched on age and sex. The 1041 bp of <it>DC-SIGN </it>promoter region was directly sequenced for all samples. Sequence alignment and SNP search were inspected using DNAStar analysis programs and haplotype frequencies were estimated in Haploview V 4.0. The associations between the SNPs and the risk of NPC were analyzed using chi-square test and non-conditional logistic regression analysis with SPSS 13.0 software.</p> <p>Results</p> <p>A total of six variants were observed in the <it>DC-SIGN </it>promoter region and <it>DC-SIGN </it>-139 GG and -939 AA were significantly associated with NPC risk with adjusted Odds Ratios (ORs) of 2.10 (95% confidence interval [CI] = 1.23-3.59; <it>P </it>= 0.006) and 2.52 (1.29-4.93; <it>P </it>= 0.007) respectively and subjects carrying the risk allele <it>DC-SIGN </it>-871 G had 1.47-fold (95% CI = 1.14-1.90) increased risks of developing NPC (<it>P </it>= 0.003). Haplotype analysis revealed that h1 'AAAG' was significantly associated with protection against NPC (OR = 0.69; <it>P </it>= 0.0002) and the association was still significant when using 1000 permutation test runs (<it>P </it>= 0.001).</p> <p>Conclusions</p> <p>Our study indicated that <it>DC-SIGN </it>promoter variants appear to be involved in the susceptibility to NPC and the detailed mechanism of this effect need further studies.</p>