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目的:研究胆囊收缩素(cholecystokinin,CCK)rs747455位点及胆囊收缩素A受体(cholecystokinin A receptor,CCKAR )rs1800856位点的基因多态性与上海市区人群胆道癌及胆石症易感性的关系。方法:采用全人群病例-对照研究的方法,运用实时荧光定量PCR系统对253例胆囊癌、133例肝外胆管癌、53例壶腹癌和440例胆石症患者以及445名正常对照进行CCK rs747455及CCKAR rs1800856位点基因型分析。结果:无胆石个体中携带CCK rs747455位点CT基因型者较携带CC基因型者罹患壶腹癌的风险降低,其比值比(odds ratio,OR)=0.31,95%可信区间(confidence interval,CI)为0.10～0.96,经过Bonferroni校正后此差异仍有统计学意义(P=0.042);饮酒个体中携带rs747455位点TT基因型或CT基因型者较携带CC基因型者罹患胆石症的概率增加(OR=2.81, 95%CI:1.08～7.29;OR=2.93, 95%CI:1.03～8.33),但经过Bonferroni校正后差异无统计学意义(P=0.061)。在CCKAR rs1800856位点的分层分析中未发现该位点与胆道癌及胆石症有显著相关性。结论:CCK基因rs747455位点可能与中国上海人群胆道癌及胆石症的发生相关。
Objective: To investigate the relationship between rs747455 locus of cholecystokinin (CCK) and rs1800856 of cholecystokinin A receptor (CCKAR) and susceptibility to biliary tract cancer and cholelithiasis in Shanghai . Methods: A population-based case-control study was conducted in 253 patients with gallbladder carcinoma, 133 with extrahepatic cholangiocarcinoma, 53 with ampullary carcinoma, and 440 with cholelithiasis and 445 normal controls using real-time fluorescence quantitative PCR. CCK rs747455 And CCKAR rs1800856 locus genotype analysis. Results: The CT genotype of CCK rs747455 locus in patients without gallstone was associated with a lower risk of ampullary cancer than those with CC genotype. The odds ratio (OR) was 0.31, 95% confidence interval CI) ranged from 0.10 to 0.96. After Bonferroni correction, the difference was still statistically significant (P = 0.042). The probability of cholelithiasis in TT genotypes or CT genotypes carrying rs747455 locus compared with those with genotype CC (OR = 2.81, 95% CI: 1.08-7.29; OR = 2.93, 95% CI: 1.03-8.33), but there was no significant difference after Bonferroni correction (P = 0.061). In the stratified analysis of CCKAR rs1800856, no significant association was found between this locus and biliary tract cancer and cholelithiasis. Conclusion: The rs747455 locus of CCK gene may be associated with the occurrence of biliary tract cancer and cholelithiasis in Shanghai, China.