摘要目的 探讨中国汉族人群中食管癌遗传易感性相关的功能性单核苷酸多态(single nucleotide polymorphism,SNP)与蒙古族人群中食管癌发病风险的关系,并比较这些遗传变异在汉族人群和蒙古族人群中的等位基因频率分布差异.方法 应用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-based restriction fragment length polymorphism assay,PCR-RFLP)方法,检测了188例蒙古族食管癌患者和324名蒙古族正常对照者的FAS-670G/A、FAS-1377G/A、FASL-844T/C、COX-2-1290A/G、COX-2-1195G/A、STK15 Phe31lie、MMP-2-1306C/T和MMP-2-735C/T共8个多态位点的基因型频率.采用多因素logistic回归模型计算各基因型携带者食管癌的发病风险.并将以上结果 与已报道的汉族人群中的结果 进行比较.结果 在蒙古族人群中,与携带STK1531Ile/Ile基因型者相比,携带STK15 31Phe/Phe者罹患食管癌的相对危险性增加(校正OR=2.20,95%C/值:1.12～4.31).携带MMP-2-735TT基因型者罹患食管癌的危险性明显高于携带-735CC基因型者(校正OR=4.82,95%C/值:1.59～14.60),未发现其他遗传变异与食管癌的患病风险相关.我国蒙古族和汉族人群间FASL-844 T/C[0.264(171/648)/0.736(477/648),0.323(418/1296)/0.677(878/1296)]、COX-2-1195G/A[0.431(279/648)/0.569(369/648),0.492(1250/2540)/0.508(1290/2540)]、MMP-2-1306C/T[0.869(563/648)/0.131(85/648),0.835(1298/1554)/0.165(256/1554)]和MMP-2-735C/T[0.789(511/648)/0.211(137/648),0.748(1163/1554)/0.252(391/1554)]等位基因频率分布差异有统计学意义(x2值分别为7.03、7.84、3.94、4.05,P值均<0.05).结论 STK15 Phe31Ile多态和MMP-2-735C/T可能是我国蒙古族人群食管癌的遗传易感因素.我国蒙古族和汉族人群的遗传差异导致不同SNP与食管癌发病风险关联情况存在差别.

abstractsObjective To investigate the frequencies of alleles and the association with risk of esophageal cancer in a Mongolian population, and to compare the allele frequencies of these polymorphisms between the two populations and the susceptibility to esophageal cancer. Methods A case-control study was conducted,and 8 single nucleotide polymorphisms (SNP) ,including FAS -670G/A, FAS -1377G/A, FASL -844T/C, COX-2 -1290A/G, COX-2 -1195G/A, STK15 Phe31Ile, MMP-2 -1306C/T and MMP -2 -735C/T,were detected by polymerase chain reaction-based restriction fragment length polymorphism assay (PCR-RFLP) in 188 esophageal cancer cases and 324 normal controls of Mongolian. The odds ratios (Ors) and 95% confidence intervals (Cis) were calculated by unconditional logistic regression. The results were then compared with the reported data of the Han ethnic Chinese population. Results In Mongolian, as compared with the STKI5 31Ile/Ile genotype,tbe STK15 31Phe/Phe genotype carriers had an increased risk of esophageal cancer (adjusted OR=2. 20,95% CI: 1.12 -4. 31) ,and the subjects with MMP-2 -735Trgenotype had an increased risk of esophageal cancer as compared with those with the MMP-2 -735CC genotype (adjusted OR=4. 82,95% CI: 1.59-14. 60). However,the rest of SNPs were not associated with the susceptibility to esophageal cancer. The allele frequencies of FASL -844 T/C [0. 264 (171/648)/0. 736 (477/648) ,0. 323 (418/1296)/0. 677 (878/1296)], COX-2 -1195G/A [0. 431 (279/648)/0. 569 (369/ 648), 0. 492 (1250/2540)/0. 508 (1290/2540)], MMP-2 -1306C/T [0. 869 (563/648)/0. 131 (85/648) ,0. 835 (1298/1554)/0. 165 (256/1554)]and MMP-2 -735C/T [0. 789 (511/648)/0. 211 (137/648) ,0. 748 (1163/1554)/0. 252 (391/1554)]were significantly different between the ethnic populations (X2=7.03,7. 84,3.94,4. 05,respectively,P<0. 05). Conclusion These findings suggested that STK15 Phe31Ile and MMP-2 -735C/T polymorphisms might be the genetic susceptibility factors for esophageal cancer in Mongolian and there should be some differences of genetic susceptibility to esophageal cancer in between Han ethnic Chinese and Mongolian population.