食管癌和贲门癌抑癌基因Ras相关区域家族1A单核苷酸多态性检测

Association of single nucleotide polymorphism of RASSF1A (Ala/Ser) with esophageal squamous cell carcinoma and gastric cardia adenocarcinoma

目的：探讨河南林州食管癌高发区食管鳞癌和贲门癌患者编码抑癌基因Ras相关区域家族1A（RASSF1A）第133位氨基酸的单核苷酸多态性。方法：采用聚合酶链反应-限制性片断长度多态方法,检测112例食管鳞状细胞癌、116例贲门腺癌患者和235名对照组RASSF1A基因型分布。结果：食管癌患者RASSF1A基因（Ser133Ala）多态位点的基因型分布与正常对照组差异无统计学意义,但在贲门癌患者中差异有统计学意义（P〈0.05）。Ala/Ser＋Ser/Ser基因型增加贲门癌的发生危险（OR值=2.06,95%CI=1.09-3.97,P=0.02）。结论RASSF1A第133位氨基酸的单核苷酸多态改变与贲门癌的发生有关,与食管鳞癌的发生无关。

Aim： To evaluate the relationship between Ras association domain family IA （RASSFIA） gene polymorphism and esophageal squamous cell carcinoma （SCC） and gastric cardiac adenocarcinoma （GCA） from a population in a high-incidence area in Linzhou, Henan. Methods：RASSFI A Ala133 Ser SNP was genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） analysis on 112 SCC patients, 116 GCA patients and 235 control from the same area in Linzhou. Results： The heterozygous Ala/Ser and homozygous Ser/Ser SNP genotypes were more frequent in GCA patients than in healthy control （P 〈 0.05 ）. The odds ratio （OR） for the patients with heterozygous Ala/Ser and homozygous Ser/Ser RASSFIA genotype compared with healthy control with the Ala/Ala genotype was 2.06 （95% CI = 1.09 -3.97, P = 0.02）. Conclusion： The results indicate that SNP of the RASSF1A Ala133 Ser allele is associated with GCA, but not with SCC susceptibility.