Background: The role of human multidrug resistance gene (MDR1) SNPs in the interindividual variability of imatinib mesylate (IM) response has received considerable attention. We aimed to study the association between ...Background: The role of human multidrug resistance gene (MDR1) SNPs in the interindividual variability of imatinib mesylate (IM) response has received considerable attention. We aimed to study the association between SNPs of the MDR1 gene (C1236T, G2677T/A, C3435T) and IM response in chronic myeloid leukemia (CML) patients. Method: A retrospective case-control study was conducted on 48 patients with CML undergoing IM therapy. All patients were genotyped using PCR-RFLP method. Results: The genotype and allele frequencies of C1236T and C3435T were not significantly different between CML patients responders and non-responders to IM (p > 0.05). The frequencies of 2677T allele and 2677TT genotype were significantly increased in CML patients IM responders which as compared with IM non-responders (50% vs 26.9%, p = 0.013 and 27.3% vs 3.8%, p = 0.029 respectively). Whereas the 2677AA genotype and CAC haplotype were found only in CML patients IM non-responders (15.4%). Conclusion: Pretreatment genotyping of G2677A/T appears to be useful for predicting IM resistance, which may allow the best choice of drug treatment for CML patients.展开更多
目的观察不同三磷酸腺苷结合盒转运体B1(ATP-binding cassette subfamily B member 1,ABCB1)G2677T基因型急性脑梗死患者应用阿托伐他汀的降脂疗效,为急性脑梗死患者个体化应用阿托伐他汀提供临床研究证据。方法自2021年3—12月连续纳...目的观察不同三磷酸腺苷结合盒转运体B1(ATP-binding cassette subfamily B member 1,ABCB1)G2677T基因型急性脑梗死患者应用阿托伐他汀的降脂疗效,为急性脑梗死患者个体化应用阿托伐他汀提供临床研究证据。方法自2021年3—12月连续纳入许昌市中心医院神经内科收治的急性脑梗死患者131例,采用荧光染色原位杂交技术检测患者ABCB1 G2677T(rs2032582)基因多态性,并根据检测结果将患者分为GG、GT和TT共3组。3组患者均给予阿托伐他汀(20 mg/d)降脂治疗,记录治疗前及治疗2个月后3组患者血清高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)、总胆固醇(TC)、甘油三酯(TG)水平并分析其变化,记录3组患者药物不良反应发生情况。以血清LDL-C水平<1.8 mmol/L为降脂治疗有效,二元Logistic回归分析探索阿托伐他汀降脂疗效的影响因素。统计软件为SPSS 25.0。结果GG、GT和TT 3组分别有50例(38.17%)、49例(37.40%)和32例(24.43%)患者。治疗后GG、GT、TT 3组患者血清TC水平分别为(3.47±0.70)mmol/L、(3.59±1.09)mmol/L和(3.48±1.02)mmol/L,低于治疗前的(4.27±0.99)mmol/L、(4.02±0.98)mmol/L和(4.03±1.31)mmol/L,均差异有统计学意义(t=7.652,3.092,5.593,均P<0.01)。治疗后GG、GT、TT 3组患者血清LDL-C水平分别为(1.89±0.53)mmol/L、(2.07±0.92)mmol/L和(1.96±0.79)mmol/L,低于治疗前的(2.87±0.92)mmol/L、(2.56±0.89)mmol/L和(2.55±1.11)mmol/L,均差异有统计学意义(t=9.896,4.055,5.980,均P<0.001)。治疗前后GG组血清LDL-C水平差值为(-0.97±0.69)mmol/L,GT组和TT组分别为(-0.50±0.86)mmol/L和(-0.59±0.56)mmol/L,3组治疗前后血清LDL-C水平差值之间差异有统计学意义(F=5.614,P=0.005)。3组患者治疗前后TC、TG、HDL-C差值差异无统计学意义(F=2.783,0.490,1.677,均P>0.05)。二元Logistic回归分析显示,ABCB1 G2677T基因类型和熬夜是阿托伐他汀降脂治疗的独立影响因素,其中ABCB1 G2677T基因GT型患者降脂有效的概率�展开更多
文摘Background: The role of human multidrug resistance gene (MDR1) SNPs in the interindividual variability of imatinib mesylate (IM) response has received considerable attention. We aimed to study the association between SNPs of the MDR1 gene (C1236T, G2677T/A, C3435T) and IM response in chronic myeloid leukemia (CML) patients. Method: A retrospective case-control study was conducted on 48 patients with CML undergoing IM therapy. All patients were genotyped using PCR-RFLP method. Results: The genotype and allele frequencies of C1236T and C3435T were not significantly different between CML patients responders and non-responders to IM (p > 0.05). The frequencies of 2677T allele and 2677TT genotype were significantly increased in CML patients IM responders which as compared with IM non-responders (50% vs 26.9%, p = 0.013 and 27.3% vs 3.8%, p = 0.029 respectively). Whereas the 2677AA genotype and CAC haplotype were found only in CML patients IM non-responders (15.4%). Conclusion: Pretreatment genotyping of G2677A/T appears to be useful for predicting IM resistance, which may allow the best choice of drug treatment for CML patients.