p16基因C540G和C580T多态与高发区食管癌和贲门癌发病风险的关联

Association between p16 Gene C540G and C580T Polymorphisms and Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma

目的探讨p16基因第3外显子3′端非编码区C540G和C580T两个单核苷酸多态与河北省高发区食管鳞状细胞癌(ESCC)和贲门腺癌(GCA)遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析265例ESCC患者、238例GCA患者和246名健康对照的p16基因C540G和C580T多态位点的基因型。结果p16基因C540G三种基因型(C/C、C/G、G/G)的频率分布在ESCC、GCA患者和对照组相比均无显著差异;p16基因C580T三种基因型(C/C、C/T、T/T)的频率在对照组和ESCC、GCA患者组间也无显著差异(P均>0.05)。单体型分析显示,对照组540C/580C、540C/580T、540G/580C和540G/580T单体型的频率分别为80.1%、10.4%、8.5%和1.0%,ESCC组单体型频率(80.8%、9.6%、8.7%和0.9%)和GCA组的单体型频率(80.2%、9.2%、9.5%和1.1%)与之相比均无显著差异(P均>0.05)。结论p16基因C540G和C580T多态可能与河北省高发区ES-CC和GCA的易感性无关。

Objective To investigate the association of the C→G single nucleotide polymorphism （SNP） at the 540 position and C→T SNP at the 580 position in the 3＇-untranslated region of p16 exon 3 with susceptibility to esophageal squamous cell carcinoma （ESCC） and gastric cardiac adenocarcinoma （GCA） in a population of high incidence region, Ci county and She county of North China. Methods The genotypes of p16 C540G and C580T SNPs were detected by polymerase-chain reaction （PCR）-restriction fragment length polymorphism （RFLP） analysis in 503 cancer patients （265 ESCC and 238 GCA） and 246 healthy controls. Results The genotype and allelotype distribution of the p16 C540G SNP in ESCC and GCA patients was not significantly different from that in healthy controls （all P values were more than 0. 05）. The genotype and allelotype distribution of the p16 C580T SNP in ESCC and GCA patients was not significantly different from that in healthy controls （all P values were more than 0. 05）, either. When the two p16 SNPs were combined analyzed, the frequencies of 540C/580C, 540C/580T, 540G/580C, and 540G/580T haplotype among ESCC （80. 8%, 9. 6%, 8. 7% and 0. 9%）, GCA （80. 2%, 9. 2%, 9. 5% and 1.1%） patients was not significantly different from that in healthy controls （80. 1%, 10. 4%, 8.5% and 1.0%） （all P values were above 0. 05）. Conclusion The p16 C540G and C580T SNPs might not be independent factors to predict the risk of the development of ESCC and GCA in Ci county and She County.