食管癌、贲门癌易感性与白细胞介素10基因启动子区多态性

目的研究白细胞介素10(IL-10)基因启动子区G-1082A和C-592A单核苷酸多态性(SNP)与高发区涉县人群食管鳞状细胞癌(ESCC)和贲门腺癌(GCA)易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测了涉县203例ESCC、152例GCA患者和443例健康对照个体IL-10G-1082A和C-592A SNP的基因型,比较各组间等位基因及基因型频率的分布。结果吸烟与ESCC和GCA的风险性经年龄和性别校正OR(95%CI)值分别为1.88(1.29~2.74)和2.89(1.86~4.48),上消化道肿瘤家族史与ESCC和GCA的风险性经年龄和性别校正OR(95%CI)值分别为1.84(1.28~2.66)和2.92(1.89~4.53),二者均显著增加患ESCC和GCA的风险性。ESCC、GCA患者IL-10G-1082A和C-592ASNP的基因型及等位基因频率分布与健康对照组相比无显著性差异(均P>0.05)。在IL-10-1082位点中,相对于A/A基因型,A/G和G/G基因型相加并没有增加ESCC和GCA的发病风险,经年龄和性别校正OR(95%CI)值分别为1.05(0.53~1.73)和1.22(0.44~2.01)。在IL-10-592位点中,相对于A/A基因型,A/C和C/C基因型相加也没有增加ESCC和GCA的发病风险,经年龄和性别校正OR(95%CI)值分别为1.13(0.95~1.35)和1.04(0.71~1.54)。两多态性位点联合分析显示,ESCC、GCA患者与健康对照组的单体型分布也无显著性差异(均P>0.05)。结论本研究未发现IL-10基因启动子区G-1082A及C-592A多态性与涉县人群ESCC和GCA的易感性有关。

Relationship between interleukin-10 promoter polymorphisms and esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma

Objective:To investigate whether the single nucleotide polymorphism (SNP) at position G-1082A and C-592A in interleukin(IL)-10 promoter region was associated with susceptibility to esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA) in Shexian, a high incidence area of North China. Methods:IL-10 promoter polymorphisms were detected by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis in 355 cancer patients (203 ESCC and 152 GCA) and 443 healthy controls. The genotype and allele frequency distribution were compared. Smoking and family history of upper gastrointestinal cancer increased the risk of ESCC and GCA[The sex-and age-adjusted OR=1.88(95% CI:1.29-2.74) and 2.89(95%CI:1.86-4.40);OR=1.84(1.28-2.66) and 2.92(1.89-4.53),respectively].The genotype and allele frequency distribution of the IL-10-1082 and-592 SNPs in ESCC and GCA patients was not significantly different from that in healthy controls (all P>0.05).Compared with A/A genotype, the combination of A/G and G/G of IL-10-1082 did not increase the risk of ESCC and GCA. The sex-and age-adjusted OR was 1.05 (95% CI=0.53-1.73) in ESCC and 1.22 (95% CI=0.44-2.01) in GCA,respectively. Compared with A/A genotype, the combination of A/C and C/C of IL-10-592 did not increase the risk of ESCC and GCA. The sex-and age-adjusted OR was 1.13 (95% CI=0.95-1.35) in ESCC and 1.04 (95% CI=0.71-1.54) in GCA,respectively. When the two IL-10 SNPs were combined, the haplotype distribution between ESCC and GCA patients was not significantly different from that in healthy controls (P>0.05). Conclusion:The IL-10 G-1082A and C-592A polymorphisms might not be independent factors to predict the risk of the development of ESCC and GCA in Shexian county.