摘要目的 探讨Galectin-3基因多态性与颅底脊索瘤发病风险的关联.方法 运用PCR和直接测序法对51例颅底脊索瘤患者和102例健康人的Galectin-3基因中rs4644、rs4652位点进行基因分型,比较颅底脊索瘤患者与健康人之间Galectin-3基因中rs4644、rs4652位点基因型、等位基因频率分布的差异,并根据性别、年龄进行分层分析.结果 Galectin-3基因中rs4652位点基因型在颅底脊索瘤组和对照组之间分布差异有统计学意义(P=0.046).按性别分层,在女性群体中,rs4652位点基因型在颅底脊索瘤组和对照组之间分布差异有统计学意义(共显性模型,CC/AC/AA,P=0.020;显性模型,CC+ AC/AA,P=0.009),携带CC和AC基因型的群体患颅底脊索瘤的发病风险增加(OR =4.5;95％ CI=1.365～14.833).结论 Galectin-3基因中rs4652位点基因多态性与颅底脊索瘤发病风险相关联,在女性群体中,携带CC和AC基因型者患颅底脊索瘤的风险增高.

abstractsObjective To investigate the association of single nucleotide polymorphisms in Galectin -3 gene and the susceptibility of skull base chordomas in Chinese.Methods Two candidate genetic variants (rs4644 and rs4652) in Galectin-3 gene were chosen based on the previous study.The distribution of genotype and allele were investigated in 51 patients with skull base chordomas and 102 healthy subjects.The genomic DNA was prepared from peripheral blood leukocytes of the subjects.Polymerase chain reaction and the following sequencing were performed for genotyping.Statistical analysis was performed using the SPSS software (IBM SPSS Statistics Version 20).Results There was significant difference for the distribution of genotypes in SNP rs4652 between the cases and control subjects (P =0.046).Through the stratification of gender,there was significant difference for the distribution of genotypes in SNP rs4652 between cases and control subjects in female (additive model,CC/AC/AA,P =0.020 ; dominant model,CC + AC/AA,P =0.009).Subjects with CC and AC genotypes were more susceptible to skull base chordomas (OR =4.5;95％ CI =1.365-14.833).There was no difference in the distribution of genotypes and alleles at galectin-3 gene rs4644 between cases and control subjects (P ＞ 0.05).Conclusions The SNP rs4652 in Galectin-3 gcnc might be associated with the susceptibility of skull base chordomas in female.In female,persons carrying CC or AC genotype might have an increased risk for skull base chordomas.