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目的调查SULT1E1基因rs3736599位点在中国北方汉族健康女性人群及子宫内膜癌患者群体中的频率分布数据,分析SULT1E1基因rs3736599位点多态性与子宫内膜癌发病的相关性。方法采用PCR-RFLP技术筛选不同分型并将其归类,运用全自动DNA测序技术确定单倍型中的突变位点。结果 SULT1E1基因rs3736599位点基因型分布在病例组和对照组差异有统计学意义,χ~2=9.616,P=0.006,用Fisher确切概率法处理得到确切P值(0.006)仍显示有统计学差异;该位点等位基因分布频率在病例组和对照组差异有统计学意义(χ~2=31.736,P=0.000,OR=2.38,95%CI:1.24~4.56),携带A等位基因患子宫内膜癌的风险是野生型纯合子的2.38倍。结论硫酸基转移酶SULT1E1基因的rs3736599位点的多态性可能对子宫内膜癌的发病风险有一定影响,并且A等位基因可能对子宫内膜癌的发生和发展产生重要影响。
Objective To investigate the frequency distribution of rs3736599 locus of SULT1E1 gene in healthy female population and endometrial cancer patients in northern Han China, and to analyze the association between rs3736599 polymorphism of SULT1E1 gene and the incidence of endometrial cancer. Methods Different genotypes were screened by PCR-RFLP and classified. The haplotypes were identified by using automatic DNA sequencing. Results The genotype distribution of rs3736599 in SULT1E1 gene was significantly different between case group and control group (χ ~ 2 = 9.616, P = 0.006). The exact P value (0.006) was still significantly different with Fisher exact test The frequency of allele distribution at this locus was significantly different between the case group and the control group (χ ~ 2 = 31.736, P = 0.000, OR = 2.38, 95% CI: 1.24-4.56) The risk of endometrial cancer is 2.38 times that of wild-type homozygotes. Conclusion The rs3736599 polymorphism of the SULT1E1 gene may have some impact on the risk of endometrial cancer, and the A allele may have an important impact on the occurrence and development of endometrial cancer.