We have identified a distal enhancer single-nucleotide polymorphism rs5758550 that robustly increases CYP2D6 expression, whereas rs16947 (CYP2D6*2), previously considered inert, reduces correct mRNA splicing and expression, thereby affecting presumed activity of other alleles on the *2 haplotype....
Caudle KE, Sangkuhl K, Whirl-Carrillo M, Swen JJ, Haidar CE, Klein TE, Gammal RS, Relling MV, Scott SA, Hertz DL, Guchelaar HJ et al (2020) Standardizing CYP 2D6 genotype to phenotype translation: consensus recommendations from the clinical pharmacogenetics implementation consortium and dutch...
结果表明 ABCB1 的 G2677T/A 基因多态性影响阿托伐他汀的疗效,对其不良反应的产生也 有相关性.Ferrari 等研究发现携带 ABCB1 的 1236C>T(rs1128503)SNP 的患者他汀类药物 诱导的血清 CK 为 8.86(P<0.001)和 OR 为 4.46(P<0.05).ABCA1 的基因多态性是值得考 虑排查他汀类药物不良反应的方法. 5 其他...
There are no previous publications on the frequency of CYP3A4 rs35599367 SNP in Finnish population. In conclusion, no differences were detected in the frequency of the studied CYP2D6 and CYP3A5 genetic variations between Finnish breast cancer patients and healthy volunteers. Frequency of CYP3A4 rs...
The haplotype-specific clearances for CYP2D6*2-rs5758550A, CYP2D6*2-rs5758550G and CYP2D6*35 were estimated to 30%, 66% and 57%, respectively, relative to the clearance for CYP2D6*1. Notably, rs5758550 is in high linkage disequilibrium (R2 > 0.85) with at least 24 other SNPs and ...
rs5758550tamoxifenAim: CYP2D6(star)2 is considered fully active, but it has been suggested that it only happens in the presence of rs5758550. This study aims to elucidate the impact of this enhancer. Materials & methods: DNA and blood samples from women enrolled in the CYPTAM study (NTR...
Allelic frequencies of the CYP2D6*1 (rs3892097), CYP3A4*5 (rs55901263), CYP3A4*18 (rs28371759), CYP3A5*2 (rs28365083) and CYP3A5*4 (rs56411402) were determined by using polymerase chain reaction-restriction fragment length polymorphism assays. Results CYP2D6 allele frequencies in detected ...
结果 rs16947位点经过基因分型可以分为CC,CT,TT三组,血药浓度分别为(157.35± 15.63) ng/ml,(70.17±5.11) ng/ml,(115.72± 10.2) ng/ml,差异无统计学意义(F=1.257,P=0.301),剂量校正浓度,标准化浓度均差异无统计学意义(F=1.683,1.547,P>0.05).HAMD减分率[CC:(40.6±7.23)%,CT:(51.7±7.09)%,TT...