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目的探索西南地区汉族人群中转化生长因子TGF-β1中TGF-β1-509(rs1800469)和TGF-β1+869(rs1800470)两位点单核苷酸多态性与胃癌发病风险的关系。方法采用1∶1病例对照研究,在四川地区选取308对经性别和年龄匹配的胃癌患者和健康对照。利用基质辅助激光解吸电离飞行时间质谱法(MALDI-TOF-MS)检测病例组与对照组中TGF-β1-509和TGF-β1+869位点多态性。同时自行设计问卷调查人口统计学信息和胃癌相关危险因素。结果 TGF-β1-509 CC、CT、TT基因型在病例组和对照组分布频率为:22.7%、51.6%、25.7%和17.9%、51.6%、30.5%;TGF-β1+869 TT、CT、CC基因型在病例组和对照组分布频率为:26.8%、48.5%、24.7%和24.7%、46.4%、28.9%。上述两基因各基因型和等位基因频率在病例组和对照组间分差异无统计学意义(P>0.05)。TGF-β1-509和TGF-β1+869位点各基因型及等位基因与全部胃癌和非贲门癌的发生差异无统计学意义(P>0.05)。未发现两位点形成的单倍体与胃癌危险之间关系(OR值,0.856;95%CI,0.679~1.079)。结论尚不能确定西南地区汉族人群中TGF-β1-509和TGF-β1+869位点多态性与胃癌发病之间的关系,需要进一步进行大样本多种族的研究。
Objective To explore the relationship between the single nucleotide polymorphisms of TGF-β1-509 (rs1800469) and TGF-β1 + 869 (rs1800470) and the risk of gastric cancer in the Han population of Southwest China. Methods A 1: 1 case-control study was conducted in which 308 gender-matched and age-matched gastric cancer patients and healthy controls were selected in Sichuan. The matrix-assisted laser desorption / ionization time of flight mass spectrometry (MALDI-TOF-MS) was used to detect the polymorphisms of TGF-β1-509 and TGF-β1 + 869 in the case group and the control group. At the same time to design a questionnaire survey demographic information and gastric cancer-related risk factors. Results The frequencies of CC, CT and TT genotypes of TGF-β1-509 in cases and controls were 22.7%, 51.6%, 25.7% and 17.9%, 51.6% and 30.5% The frequencies of CC genotypes in cases and controls were 26.8%, 48.5%, 24.7% and 24.7%, 46.4% and 28.9%, respectively. There was no significant difference in genotype and allele frequency between the two groups (P> 0.05). The genotypes and alleles of TGF-β1-509 and TGF-β1 + 869 were not significantly different from those of all gastric cancer and non-cardiac cancer (P> 0.05). No association between the haplotype and gastric cancer risk was found at the two loci (OR, 0.856; 95% CI, 0.679-1.079). Conclusion The relationship between TGF-β1-509 and TGF-β1 + 869 polymorphisms and the incidence of gastric cancer in the Han population of Southwest China can not be determined yet. Therefore, further studies on multi-ethnicity in large samples are needed.