An update on ABCB1 pharmacogenetics: insights from a 3D model into the location and evolutionary conservation of residues corresponding to SNPs associated with drug pharmacokinetics [0.03%]
ABCB1药物基因组学的最新研究进展：从三维模型看与药物动力学相关的SNPs所对应的作用位点及其进化保守性
S J Wolf,M Bachtiar,J Wang et al.
S J Wolf et al.
The human ABCB1 protein, (P-glycoprotein or MDR1) is a membrane-bound glycoprotein that harnesses the energy of ATP hydrolysis to drive the unidirectional transport of substrates from the cytoplasm to the extracellular space. As a large ran...
Cytidine deaminase single-nucleotide polymorphism is predictive of toxicity from gemcitabine in patients with pancreatic cancer: RTOG 9704 [0.03%]
胞嘧啶脱氨酶单核苷酸多态性预测胰腺癌吉西他滨毒性：RTOG 9704研究
J J Farrell,K Bae,J Wong et al.
J J Farrell et al.
The aim of this study is to validate the prognostic and predictive value of the non-synonymous cytidine deaminase (CDA) Lys²⁷Gln polymorphism for hematological toxicity and survival using a randomized phase III adjuvant trial (Radiation T...
Clinical Trial
The pharmacogenomics journal. 2012 Oct;12(5):395-403. DOI:10.1038/tpj.2011.22 2012
Genetics informatics trial (GIFT) of warfarin to prevent deep vein thrombosis (DVT): rationale and study design [0.03%]
基因信息试验(GIFT)：华法林预防深静脉血栓形成(DVT)的合理性与实验设计
E J Do,P Lenzini,C S Eby et al.
E J Do et al.
The risk of venous thromboembolism (VTE) is higher after the total hip or knee replacement surgery than after almost any other surgical procedure; warfarin sodium is commonly prescribed to reduce this peri-operative risk. Warfarin has a nar...
Randomized Controlled Trial
The pharmacogenomics journal. 2012 Oct;12(5):417-24. DOI:10.1038/tpj.2011.18 2012
Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes [0.03%]
用于戒烟的伐尼克兰：恶心程度及尼古丁受体基因多态性的差异的影响
G E Swan,H S Javitz,L M Jack et al.
G E Swan et al.
This study evaluated association between common and rare sequence variants in 10 nicotinic acetylcholine receptor subunit genes and the severity of nausea 21 days after initiating the standard, Food and Drug Administration-approved varenicl...
Randomized Controlled Trial
The pharmacogenomics journal. 2012 Aug;12(4):349-58. DOI:10.1038/tpj.2011.19 2012
Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations [0.03%]
对编码Lp-PLA2的PLA2G7基因的2000个欧洲人测序发现几个罕见的功能丧失型突变
K Song,M R Nelson,J Aponte et al.
K Song et al.
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of ...
Polymorphism in multidrug resistance-associated protein gene 3 is associated with outcomes in childhood acute lymphoblastic leukemia [0.03%]
多药耐药相关蛋白基因3多态性与儿童急性淋巴细胞白血病预后有关
M Ansari,G Sauty,M Labuda et al.
M Ansari et al.
Multidrug resistance-related proteins (MRPs) 2, 3 and 5 are involved in the efflux of drugs used in acute lymphoblastic leukemia (ALL) treatment. Polymorphisms of these genes were investigated for an association with treatment responses in ...
Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-β therapy in multiple sclerosis patients [0.03%]
与多发性硬化症患者干扰素-β治疗产生抗体相关的HLA和非HLA基因单核苷酸多态性分析
F Weber,S Cepok,C Wolf et al.
F Weber et al.
Interferons-β (IFN-β) are the most widely used immunomodulatory drugs for treatment of multiple sclerosis (MS). The development of neutralizing antibodies (NABs) against IFN-β is one of the main reasons for treatment failure. While formu...
Multicenter Study
The pharmacogenomics journal. 2012 Jun;12(3):238-45. DOI:10.1038/tpj.2011.14 2012
F Dionne,C Mitton,R Rassekh et al.
F Dionne et al.
Cisplatin is a widely used chemotherapy drug in the treatment of pediatric solid tumors, but it is associated with significant rates of ototoxicity (medication-induced hearing loss). A genetic test has recently been developed that can help ...
M A Reimers,B P Riley,G Kalsi et al.
M A Reimers et al.
We introduce a method for detecting variants in several genes of related function with small effect on a phenotype of interest. Our method uses logistic regression to test whether multiple alleles within a functional set have significantly ...
Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and -202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency [0.03%]
生长激素的药物基因学：IGF1启动区多态性与GHR第3外显子和IGFBP3-202A/C变异体在重度生长激素缺乏症患儿治疗效果中的交互作用
E F Costalonga,S R R Antonini,G Guerra Jr et al.
E F Costalonga et al.
Insulin-like growth factor type 1 (IGF1) is a mediator of growth hormone (GH) action, and therefore, IGF1 is a candidate gene for recombinant human GH (rhGH) pharmacogenetics. Lower serum IGF1 levels were found in adults homozygous for 19 c...