Read by QxMD icon Read


Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 2016: Pharmacogenomics
Tanja Maria Brückl, Manfred Uhr
P-glycoprotein (P-gp), the gene product of ABCB1, is a drug transporter at the blood-brain barrier and could be a limiting factor for entrance of antidepressants into the brain, the target site of antidepressant action. Animal studies showed that brain concentrations of many antidepressants depend on P-gp. In humans, ABCB1 genotyping in the treatment of depression rests on the assumption that genetic variations in ABCB1 explain individual differences in antidepressant response via their effects on P-gp expression at the blood-brain barrier...
December 2016: Pharmacogenomics
Xi Li, Jun Zhang, Xi Wu, Han Yan, Yin Zhang, Ruo-Hui He, Yong-Jun Tang, Yi-Jing He, Dan Tan, Xiao-Yuan Mao, Ji-Ye Yin, Zhao-Qian Liu, Hong-Hao Zhou, Jie Liu
AIM: The clinical efficacy of valproic acid (VPA) varies greatly among epileptic patients. To find the potential genetic factors related to VPA responses, the pharmacogenetics study was conducted. METHODS: Two hundred and one Chinese Han epileptic patients who were treated by VPA for at least 1 year were recruited. Up to 24 SNPs in 11 candidate genes that correlate with the metabolism, transport or target of VPA were genotyped. RESULTS: Three SNPs, rs1731017 (ABAT), rs2304016 (SCN2A) and rs1054899 (ALDH5A1) were found associated with VPA responses with the p-values of 0...
December 2016: Pharmacogenomics
Qing-Ming Kong, Xiao Zhu, Qun-Bo Tong, Bin Zheng, Na-Yu Shi, Di Lou, Jian-Zu Ding, Jian-Ping Jia, Xiao-Heng Chen, Rui Chen, Shao-Hong Lu
AIM: miRNAs play a significant role in pharmacogenomics and are likely to be important in the molecular mechanism of atesunate (ART) effects on Schistosoma japonicum. METHODS: We sequenced the RNAs using an Illumina (Solexa) DNA sequencer and compared the relative expression levels of the miRNAs in 10-day-old schistosomula from ART and the parallel control group. RESULTS: We characterized 95 known miRNAs from S. japonicum schistosomula individuals, including 38 novel miRNA families...
December 2016: Pharmacogenomics
(no author information available yet)
No abstract text is available yet for this article.
February 2017: Pharmacogenomics
Marta Schirripa, Letizia Procaccio, Sara Lonardi, Fotios Loupakis
No abstract text is available yet for this article.
February 2017: Pharmacogenomics
Paul Cd Bank, Jesse J Swen, Henk-Jan Guchelaar
AIM: To benchmark Dutch pharmacists knowledge, experience and attitudes toward pharmacogenetics (PGx) with a specific focus on the effects of awareness of the Dutch Pharmacogenetics Working Group guidelines. METHODS: A web-based survey containing 41 questions was sent to all certified Dutch pharmacists. RESULTS: A total of 667 pharmacists completed the survey (18.8%). Virtually all responders believed in the concept of PGx (99.7%). However, only 14...
February 2017: Pharmacogenomics
Raffaele Palmirotta, Davide Quaresmini, Domenica Lovero, Franco Silvestris
ALK was first reported in 1994 as a translocation in anaplastic large cell lymphoma and then described with different abnormalities in a number of tumors. Recently, a shortly accumulated biomedical research clarified the numerous biological processes underlying its ability to support cancer development, growth and progression. Advent of precision medicine has finally provided unexpected advances, leading to the development of ALK-targeting inhibitors with superior efficacy as compared with standard chemotherapy regimens, as well as the identification of resistance mechanisms and the creation of 'next-generation' treatments...
February 2017: Pharmacogenomics
Qian-Qian Song, Wan-Ying Xie, Yong-Jun Tang, Jun Zhang, Jie Liu
Glucocorticoids (GCs) are widely used for treating asthma, rheumatoid arthritis, nephrotic syndrome, acute lymphoblastic leukemia and other autoimmune diseases. However, in a subgroup of patients, failure to respond to GCs is known as GC resistance or GC insensitivity. This represents an important barrier to effective treatment and a clinical problem requiring an urgent solution. Genetic variation in the GC pathway is a significant factor in interindividual differences in GC treatment. This article reviews the pharmacogenetics of GCs in diverse diseases based on the GC pathway...
February 2017: Pharmacogenomics
Mara L Gibson, Kenneth C Hohmeier, Cindy T Smith
AIM: To determine patient knowledge, interest and willingness-to-pay for pharmacogenomics testing in a community pharmacy. PATIENTS & METHODS: The link to a cross-sectional, anonymous online survey was distributed to a convenience sample of patients. The contingent valuation method was used to assess willingness-to-pay. RESULTS: Twenty seven surveys were completed. Eighty one percent of patients were interested in the service, but patients felt that they would be more likely to use the service if insurance covered the cost...
February 2017: Pharmacogenomics
Yining Sun, Lingfei Mo, Xiuyuan Feng, Dongmei Yang, Taochao Tan, Lingxia Zeng, Lingyun Hui, Yawen Wang, Cheng Liu, Lan He
AIM: SNPs of FcγRs were implicated in pathogenesis of rheumatoid arthritis (RA) and treatment efficacy of TNF inhibitors (TNFi). This study aims to investigate the associations of FcγRIIa and FcγRIIIa genotypes with autoantibody production and treatment response to TNFi in Chinese patients with RA. PATIENTS & METHODS: FcγRIIa and FcγRIIIa polymorphisms were genotyped in 158 RA patients. Response to TNFi was evaluated in 18 patients at 3 and 6 months after treatment...
February 2017: Pharmacogenomics
Savitha Varatharajan, Ajay Abraham, Sreeja Karathedath, Sukanya Ganesan, Kavitha M Lakshmi, Nancy Arthur, Vivi M Srivastava, Biju George, Alok Srivastava, Vikram Mathews, Poonkuzhali Balasubramanian
INTRODUCTION: Drug resistance and relapse are considered to be the major reasons for treatment failure in acute myeloid leukemia (AML). There is limited data on the role of ABC transporter expression on in vitro sensitivity to cytarabine (Ara-C) and daunorubicin (Dnr) in primary AML cells. PATIENTS & METHODS: RNA expression levels of 12 ABC transporters were analyzed by real-time quantitative PCR in 233 de novo adult acute myeloid leukemia patients. Based on cytarabine or Dnr IC50, the samples were categorized as sensitive, intermediate and resistant...
February 2017: Pharmacogenomics
Ming-Shien Wen, Kuan-Cheng Chang, Tsong-Hai Lee, Ying-Fu Chen, Kuo-Chun Hung, Yeu-Jhy Chang, Chia-Wei Liou, Jin-Jer Chen, Chien-Hung Chang, Chao-Yung Wang, Jiann-Shing Jeng, Hui-Ping Chuang, Ying-Ting Chen, Chien-Hsiun Chen, Jer-Yuarn Wu, Yuan-Tsong Chen, Ming Ta Michael Lee
AIM: This study aimed to determine clinical utility of genotype-guided dosing for warfarin in Han-Chinese. METHODS: A total of 320 patients were randomly assigned International Warfarin Pharmacogenetic Consortium algorithm, Taiwan algorithm and optimal clinical care arms. The primary outcome of the study was the percentage of time in the therapeutic range during the first 90 days of treatment. RESULTS: The percentage of time in the therapeutic range of the clinical care group in the first 2 weeks was significantly higher than the algorithm groups...
February 2017: Pharmacogenomics
Pär Hallberg, Matilda Persson, Tomas Axelsson, Marco Cavalli, Pia Norling, Hans-Erik Johansson, Qun-Ying Yue, Patrik Ke Magnusson, Claes Wadelius, Niclas Eriksson, Mia Wadelius
AIM: We conducted a genome-wide association study on angiotensin-converting enzyme inhibitor-induced cough and used our dataset to replicate candidate genes identified in previous studies. PATIENTS & METHODS: A total of 124 patients and 1345 treated controls were genotyped using Illumina arrays. The genome-wide significance level was set to p < 5 × 10(-8). RESULTS: We identified nearly genome-wide significant associations in CLASP1, PDE11A, KCNMB2, TGFA, SLC38A6 and MMP16...
February 2017: Pharmacogenomics
Lei Ren, Mujian Teng, Tao Zhang, Xiaoqing Zhang, Bo Sun, Shengying Qin, Lin Zhong, Zhihai Peng, Junwei Fan
AIM: Flavin-containing monooxygenase (FMO) variants were potentially involved in tacrolimus metabolism in kidney transplantion. The influences of FMO3 genotypes on tacrolimus elimination in Chinese liver transplant patients remained unclear. PATIENTS & METHODS: FMO3 SNPs and CYP3A5 rs776746 were analyzed in 110 Chinese patients. RESULTS: Donor FMO3 rs1800822 allele T and rs909530 allele T were associated with fast tacrolimus elimination. Combination of polymorphisms of donor FMO3 rs1800822 and rs909530 genotype impacted on tacrolimus elimination (p = 0...
February 2017: Pharmacogenomics
Harumi Takahashi, Minami Ohara, Soichi Shibata, Ming Ta Michael Lee, Larisa H Cavallari, Edith A Nutescu, Maria G Scordo, Vittorio Pengo, Roberto Padrini, Koichiro Atsuda, Hajime Matsubara, Yuan Tsong Chen, Hirotoshi Echizen
AIM: To clarify whether the activities of multiple CYPs associated with warfarin metabolism would be correlated with each other. METHODS: Oral clearances (CLpo) of warfarin enantiomers were estimated in 378 Chinese, Caucasians and African-Americans. The partial metabolic clearances (CLm) for 7-hydroxywarfarin enantiomers were also measured. In addition, CLpo and CLm were determined in a patient on warfarin and rifampicin. RESULTS: Correlations between CLpo for warfarin enantiomers existed across the three populations...
January 2017: Pharmacogenomics
Ellen S Ovenden, Britt I Drögemöller, Lize van der Merwe, Bonginkosi Chiliza, Laila Asmal, Robin A Emsley, Louise Warnich
AIM: Noncoding variation has demonstrated regulatory effects on disease treatment outcomes. This study investigated the potential functionality of previously implicated noncoding variants on schizophrenia treatment response. MATERIALS & METHODS: Predicted regulatory potential of variation identified from antipsychotic response genome-wide association studies was determined. Prioritized variants were assessed for association(s) with treatment outcomes in a South African first episode schizophrenia cohort (n = 103)...
January 2017: Pharmacogenomics
Ana M Peiró, César Margarit, Adrián LLerena
No abstract text is available yet for this article.
January 2017: Pharmacogenomics
Yuehong Chen, Kun Zou, Jianhong Sun, Yuan Yang, Gang Liu
AIM: Identifying the predictors of responsiveness and adverse events in methotrexate (MTX) treated patients with rheumatoid arthritis (RA) has been the focus of most concern, but still without consistent consensus. METHODS: PubMed and OVID EMBASE were searched to collect relevant studies that addressed correlations between gene polymorphisms and efficacy and/or toxicity in MTX-treated RA patients. Allelic, recessive, dominant and over-dominant model were applied...
January 2017: Pharmacogenomics
Zhi-Ping Jiang, Xie-Lan Zhao, Naoto Takahashi, Sabrina Angelini, Biswajit Dubashi, Li Sun, Ping Xu
AIM: The present study aimed to conduct a series of meta-analyses to investigate the influence of imatinib trough concentration (C0), as well as ABCB1 and ABCG2 polymorphisms, on the clinical response in patients with chronic myeloid leukemia (CML). METHODS: A literature search was conducted using the PubMed and Cochrane electronic databases to locate relevant papers from 2003 onward. Then, an initial meta-analysis of 14 studies involving 2184 patients was conducted to understand the effect of imatinib mesylate (IM) C0 on clinical outcome in CML patients...
January 2017: Pharmacogenomics
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"