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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...
January 13, 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...
January 13, 2017: Pharmacogenomics
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
Kavisha Singh, Bruce Peyser, Gloria Trujillo, Nicholas Milazzo, Dillon Savard, Susanne B Haga, Michael Musty, Deepak Voora
No abstract text is available yet for this article.
November 3, 2016: Pharmacogenomics
Sylvia Chen, Natalia Sutiman, Balram Chowbay
The use of imatinib in the treatment of BCR-ABL-positive chronic myeloid leukemia and gastrointestinal stromal tumors has significantly improved survival outcomes in patients afflicted by these malignancies. However, a substantial proportion of imatinib-treated patients still experience treatment failure. Suboptimal concentrations of imatinib have been postulated to contribute at least partially to the development of resistance against imatinib. Indeed, variations in the genes encoding drug transporters have been reported to markedly influence imatinib disposition and treatment outcomes in various populations...
November 2, 2016: Pharmacogenomics
Keqin Gregg, Wenjing Guo, Robert Rhodes, Ashrita Simhadri, Archana Subramanya, Paul Samilpa, Lyndsey Langley, Kyle Ames, Matt McCarty
AIM: This study investigated the possible cause of false positive detection of CYP2D6 gene duplication (CYP2D6XN) using the standard TaqMan-based real-time PCR assay from Thermo Fisher Scientific. METHODS: Used samples of two copy carriers as control to evaluate the effect of sample storage condition and the reference genes with respect to test accuracy. RESULTS: The standard test from Thermo Fisher Scientific produced false positive results of the CYP2D6XN detection when samples were exposed to high temperature and high humidity...
November 1, 2016: Pharmacogenomics
Katy Sánchez-Pozos, Carolina Rivera-Santiago, María Helena García-Rodríguez, María Guadalupe Ortiz-López, Barbara Itzel Peña-Espinoza, María de Los Ángeles Granados-Silvestre, Adrian Llerena, Marta Menjívar
AIM: CYP2C9 is one of the major drug metabolizing enzymes, however, little is known about polymorphisms in CYP2C9 gene and pharmacological implications in Mexican indigenous populations. Thus, frequencies of CYP2C9*2 and CYP2C9*3 alleles were evaluated in indigenous groups located in northwest (Cora), center (Mazahua and Teenek), south (Chatino and Mixteco) and southeast (Chontal and Maya) regions Mexico. MATERIALS & METHODS: Allelic discrimination was performed by real-time PCR...
October 28, 2016: Pharmacogenomics
Jason D Roberts, Gregory M Marcus
Previously confined to the management of rare inherited arrhythmia syndromes, a role for genetics within cardiac electrophysiology has begun to emerge for more common arrhythmias, including atrial fibrillation (AF). Catheter ablation for AF is an invasive procedure effective for restoring normal rhythm, however, fails in up to 40% of those undergoing their first procedure and carries a risk for serious adverse events. Recent studies have suggested that a common genetic variant within chromosome 4q25 may be a powerful predictor of procedural success, highlighting the potential of an 'ablatogenomic' strategy...
October 28, 2016: Pharmacogenomics
Monir Sadat Haerian, Batoul Sadat Haerian, Saadat Molanaei, Farid Kosari, Shahram Sabeti, Farahnaz Bidari-Zerehpoosh, Ebrahim Abdolali, Mohammad Reza Zali
: Several studies have investigated whether MTHFR rs1801133 polymorphism contributes to risk of colorectal cancer (CRC), however the results are inconclusive. AIM: The purpose of this study was to investigate this hypothesis in a case-control study and meta-analysis in Iranian population. MATERIALS & METHODS: This polymorphism was genotyped in the 2421 subjects (46% CRC patients) from Tehran. Meta-analysis was performed for determining the risk effect size of this polymorphism on CRC...
October 28, 2016: Pharmacogenomics
Martha Sosa-Macías, Enrique Teran, William Waters, Martha M Fors, Catalina Altamirano, Helgi Jung-Cook, Carlos Galaviz-Hernández, Marisol López-López, Diadelis Remírez, Graciela E Moya, Francisco Hernández, Humberto Fariñas, Ronald Ramírez, Carolina Céspedes-Garro, Eduardo Tarazona-Santos, Adrián LLerena
Congress of Pharmacogenetics and Personalized Medicine. Ethnicity, clinical implementation and regulatory environment (MESTIFAR 2016 Quito). Quito, Ecuador, 19-21 May 2016. The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) was created in 2006 with the main aim of promoting personalized medicine and collaborative pharmacogenetics research in Spanish- and Portuguese-speaking countries in America and the Iberian Peninsula. The final goal of this initiative was the inclusion of Latin American populations that may benefit from the implementation of personalized medicine in drug therapy...
October 28, 2016: Pharmacogenomics
Cindy T Pau, Kai I Cheang, Bhavi P Modi, Thushiga Kasippillai, Candace C Keefe, Maria Shulleeta, William S Evans, Lubna Pal, Jerome F Strauss, John E Nestler, Corrine K Welt
AIMS: Variants in genes encoding metformin transport proteins and the ATM gene are associated with metformin response. We hypothesized that these gene variants contribute to variable metformin treatment response in polycystic ovary syndrome. MATERIALS & METHODS: The discovery cohort (n = 38) was studied in an open-label study. Results were replicated in two additional cohorts (n = 26 and n = 131). Response was assessed after 3-6 months of treatment with metformin extended-release 1500-2000 mg/day...
October 28, 2016: Pharmacogenomics
Xiaoman Liu, Jane Beith, Siew-Kee Low, Alan V Boddy
No abstract text is available yet for this article.
October 28, 2016: Pharmacogenomics
Ingrid Fricke-Galindo, Alberto Ortega-Vázquez, Nancy Monroy-Jaramillo, Pedro Dorado, Helgi Jung-Cook, Eva Peñas-Lledó, Adrián LLerena, Marisol López-López
AIM: To determine allele and genotype frequencies of genes influencing anti-epileptic drug therapy in Mexican-Mestizo (MM) healthy volunteers, and to evaluate whether these are different from those reported for other populations. SUBJECTS & METHODS: Thirty-nine variants of CYP3A5, EPHX1, NR1I2, HNF4A, UGT1A1, UGT2B7, ABCC2, RALBP1, SCN1A, SCN2A and GABRA1 were genotyped in 300 MM healthy volunteers. RESULTS: All studied alleles were presented in MM, except for seven UGT1A1 variants (*6-8, 14, 15, 27 and 29)...
October 28, 2016: Pharmacogenomics
George P Patrinos, Theodora Katsila
The Pharmacogenomics and Personalized Medicine group belongs to the Laboratory of Molecular Biology and Immunology, Department of Pharmacy and is active since 2009 mainly in the field of pharmacogenomics and personalized medicine. Herein, we describe the research interests, collaborations and accomplishments of the Pharmacogenomics and Personalized Medicine group together with the teaching activities of the group that greatly enhance the pharmacogenomics knowledge of graduate/postgraduate students and healthcare professionals...
October 28, 2016: Pharmacogenomics
Louise M Andrews, Brenda Cm De Winter, Teun Van Gelder, Dennis A Hesselink
No abstract text is available yet for this article.
October 28, 2016: 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
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