Jindal Charulata, Kumar Sandeep, Choudhari Gourdas, Goel Himanshu, Mittal Balraj
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Indian J Med Res. 2009 Feb;129(2):170-5.
BACKGROUND & OBJECTIVES: Organic anion transport protein 1B1 (OATP1B1) is a major transporter protein for bile salt uptake in the enterohepatic circulation of bile salts. As the role of SLCO1B1 gene (encodes OATP1B1 or liver specific transporter-1) 388 A>G polymorphism in susceptibility towards gallstone disease is unclear the prevalence of this polymorphism in healthy north Indian population was investigated.
Peripheral venous blood of 270 unrelated northern Indian patients with symptomatic gallstone disease and 270 unrelated healthy control subjects was screened for SLCO1B1 gene 388 A>G polymorphism by PCR-RFLP method and genotyping was done on 12 per cent polyacrylamide gel. The cross-sectional data on accrual of cases and controls were collected and odds ratio with 95 per cent CI calculated as for case-control design.
Allele frequencies of 388 G were 45 per cent in gallstone cases and 44 per cent in controls with no statistical significance. Genotype frequencies in gallstone cases and controls for, genotype AA were 30 and 32 per cent; AG: 51 and 47 per cent and GG: 16 and 21 per cent respectively. No significant association of any allele or genotype with gallstone disease was found.
INTERPRETATION & CONCLUSION: Although the prevalence of SLCO1B1 gene 388A>G polymorphism in north Indian population in high, yet this polymorphism does not appear to play a significant role in susceptibility to gallstone formation.
有机阴离子转运蛋白1B1(OATP1B1)是胆汁盐肠肝循环中摄取胆汁盐的主要转运蛋白。由于溶质载体有机阴离子转运体家族成员1B1基因(SLCO1B1,编码OATP1B1或肝脏特异性转运体-1)388A>G多态性在胆结石疾病易感性中的作用尚不清楚,因此对健康的北印度人群中该多态性的患病率进行了调查。
采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,对270例有症状的北印度胆结石患者和270例无亲缘关系的健康对照者的外周静脉血进行SLCO1B1基因388A>G多态性筛查,并在12%的聚丙烯酰胺凝胶上进行基因分型。收集病例和对照的累积横断面数据,并按照病例对照设计计算95%置信区间的比值比。
胆结石病例中388G等位基因频率为45%,对照组为44%,无统计学意义。胆结石病例组和对照组中,基因型AA的频率分别为30%和32%;AG分别为51%和47%;GG分别为16%和21%。未发现任何等位基因或基因型与胆结石疾病有显著关联。
尽管北印度人群中SLCO1B1基因388A>G多态性的患病率较高,但这种多态性似乎在胆结石形成的易感性中不起重要作用。