Srivastava A, Mittal B
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGIMS), Lucknow-226014 (UP), India.
Scand J Immunol. 2009 Dec;70(6):614-20. doi: 10.1111/j.1365-3083.2009.02329.x.
Decreased expression due to genetic variations in complement receptor 1 (CR1) on erythrocytes might result in reduced clearance of immune complexes, conferring interindividual variation for gallbladder cancer (GBC) susceptibility. We studied role of CR1 (A(3650)G RsaI and Intron 27 HindIII) polymorphisms in gallstone disease and GBC in north Indian population. Study included 185 GBC patients, 185 gallstone patients and 200 controls. Genotyping was done by PCR-RFLP. Result showed GG genotype and G allele of CR1 A(3650)G RsaI were conferring significant risk for GBC [(P = 0.022; OR = 1.94; 95% CI = 1.1-3.4) and (P = 0.035; OR = 1.35; 95% CI = 1.0-3.8) respectively]. Also, comparison of GBC patients with gallstone patients showed increased risk for GBC in presence of GG genotype and G allele GBC (P = 0.048; OR = 1.74; 95% CI = 1.0-3.0) and (P = 0.027; OR = 1.39; 95% CI = 1.0-1.8) respectively. No association of CR1 A(3650)G RsaI polymorphism was observed when gallstone patients were compared with controls. CR1 Intron 27 HindIII polymorphism was not associated with GBC and gallstone susceptibility. Haplotype analysis showed increased risk of GBC in presence of G,L haplotype (P = 0.046; OR = 1.35: 95% CI = 1.0-1.8). Subgroup stratifications on basis of gender and gallstone status showed GG genotype of CR1 A(3650)G RsaI polymorphism imparted high risk for GBC in females (P = 0.043; OR = 1.99: 95% CI = 1.4-3.9). Also there was increased risk for GBC in presence as well as absence of gallstones (OR = 1.85 and 1.76 respectively), but it was not statistically significant. We conclude that CR1 A(3650)G RsaI polymorphism plays an important role in conferring genetic susceptibility to gallbladder cancer GBC in north Indian population.
红细胞上补体受体1（CR1）的基因变异导致其表达降低，可能会使免疫复合物的清除减少，从而造成个体间胆囊癌（GBC）易感性的差异。我们研究了CR1（A(3650)G RsaI和内含子27 HindIII）基因多态性在印度北部人群胆结石疾病和胆囊癌中的作用。研究纳入了185例胆囊癌患者、185例胆结石患者和200例对照。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型。结果显示，CR1 A(3650)G RsaI的GG基因型和G等位基因分别赋予胆囊癌显著风险[（P = 0.022；比值比（OR）= 1.94；95%置信区间（CI）= 1.1 - 3.4）和（P = 0.035；OR = 1.35；95% CI = 1.0 - 3.8）]。此外，将胆囊癌患者与胆结石患者进行比较显示，存在GG基因型和G等位基因时胆囊癌风险增加（P = 0.048；OR = 1.74；95% CI = 1.0 - 3.0）和（P = 0.027；OR = 1.39；95% CI = 1.0 - 1.8）。当将胆结石患者与对照进行比较时，未观察到CR1 A(3650)G RsaI基因多态性的关联。CR1内含子27 HindIII基因多态性与胆囊癌和胆结石易感性无关。单倍型分析显示，存在G,L单倍型时胆囊癌风险增加（P = 0.046；OR = 1.35：95% CI = 1.0 - 1.8）。基于性别和胆结石状态的亚组分层显示，CR1 A(3650)G RsaI基因多态性的GG基因型赋予女性胆囊癌高风险（P = 0.043；OR = 1.99：95% CI = 1.4 - 3.9）。此外，无论有无胆结石，胆囊癌风险均增加（OR分别为1.85和1.76），但差异无统计学意义。我们得出结论，CR1 A(3650)G RsaI基因多态性在赋予印度北部人群胆囊癌（GBC）遗传易感性方面起重要作用。
