journal
MENU ▼
Read by QxMD icon Read
search

Pharmacogenomics and Personalized Medicine

journal
https://www.readbyqxmd.com/read/28603427/pharmacogenetics-in-inflammatory-bowel-disease-understanding-treatment-response-and-personalizing-therapeutic-strategies
#1
REVIEW
Jesús K Yamamoto-Furusho
Inflammatory bowel disease (IBD) is a chronic and heterogeneous disorder characterized by remitting and relapsing periods of activity. Pharmacogenetics refers to the study of the effect of inheritance on individual variation in drug responses. Several drug-related markers in IBD patients have been identified in order to predict the response to medical treatment including biological therapy as well as the reduction of adverse events. In the future, the treatment of IBD should be personalized in its specific profile to provide the most efficacious treatment with lack of adverse events...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28572737/observational-study-to-calculate-addictive-risk-to-opioids-a-validation-study-of-a-predictive-algorithm-to-evaluate-opioid-use-disorder
#2
Ashley Brenton, Steven Richeimer, Maneesh Sharma, Chee Lee, Svetlana Kantorovich, John Blanchard, Brian Meshkin
BACKGROUND: Opioid abuse in chronic pain patients is a major public health issue, with rapidly increasing addiction rates and deaths from unintentional overdose more than quadrupling since 1999. PURPOSE: This study seeks to determine the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated single-nucleotide polymorphisms (SNPs). PATIENTS AND METHODS: The Proove Opioid Risk (POR) algorithm determines the predictability of aberrant behavior to opioids using a comprehensive scoring algorithm incorporating phenotypic risk factors and neuroscience-associated SNPs...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28553132/cyp2c19-2-status-in-patients-with-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis
#3
Amanda J Laska, Marie J Han, Josh A Lospinoso, Patrick J Brown, Thomas M Beachkofsky
PURPOSE: Genetic polymorphisms have been linked to an increased predisposition to developing certain diseases. For example, patients of Han-Chinese descent carrying the HLA-B*1502 allele are at an increased risk of developing Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) if given carbamazepine. Given the complexity of in vivo drug metabolism, it is plausible that the activity of enzyme systems unrelated to specific drug metabolism may be important. Although multiple biomarkers have been identified in unique ethnic groups, there has yet to be a study investigating the presence of the slow metabolizing allele of CYP2C19, denoted CYP2C19*2, in diverse groups and the risk of developing SJS/TEN...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28546766/abcb1-genetic-variants-in-leukemias-current-insights-into-treatment-outcomes
#4
REVIEW
Ravindran Ankathil
Despite improvements in treatment of different types of leukemia, not all patients respond optimally for a particular treatment. Some treatments will work better for some, while being harmful or ineffective for others. This is due to genetic variation in the form of single-nucleotide polymorphisms (SNPs) that affect gene expression or function and cause inherited interindividual differences in the metabolism and disposition of drugs. Drug transporters are one of the determinants governing the pharmacokinetic profile of chemotherapeutic drugs...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28533693/dna-methylation-at-the-mu-1-opioid-receptor-gene-oprm1-promoter-predicts-preoperative-acute-and-chronic-postsurgical-pain-after-spine-fusion
#5
Vidya Chidambaran, Xue Zhang, Lisa J Martin, Lili Ding, Matthew T Weirauch, Kristie Geisler, Bobbie L Stubbeman, Senthilkumar Sadhasivam, Hong Ji
INTRODUCTION: The perioperative pain experience shows great interindividual variability and is difficult to predict. The mu-1 opioid receptor gene (OPRM1) is known to play an important role in opioid-pain pathways. Since deoxyribonucleic acid (DNA) methylation is a potent repressor of gene expression, DNA methylation was evaluated at the OPRM1 promoter, as a predictor of preoperative, acute, and chronic postsurgical pain (CPSP). METHODS: A prospective observational cohort study was conducted in 133 adolescents with idiopathic scoliosis undergoing spine fusion under standard protocols...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28507448/thiopurine-s-methyltransferase-polymorphisms-in-acute-lymphoblastic-leukemia-inflammatory-bowel-disease-and-autoimmune-disorders-influence-on-treatment-response
#6
REVIEW
Rachid Abaji, Maja Krajinovic
The thiopurine S-methyltransferase (TPMT) gene encodes for the TPMT enzyme that plays a crucial role in the metabolism of thiopurine drugs. Genetic polymorphisms in this gene can affect the activity of the TPMT enzyme and have been correlated with variability in response to treatment with thiopurines. Advances in the pharmacogenetics of TPMT allowed the development of dosing recommendations and treatment strategies to optimize and individualize prescribing thiopurine in an attempt to enhance treatment efficacy while minimizing toxicity...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28461764/abcg2-polymorphisms-in-gout-insights-into-disease-susceptibility-and-treatment-approaches
#7
REVIEW
M C Cleophas, L A Joosten, L K Stamp, N Dalbeth, O M Woodward, Tony R Merriman
As a result of the association of a common polymorphism (rs2231142, Q141K) in the ATP-binding cassette G2 (ABCG2) transporter with serum urate concentration in a genome-wide association study, it was revealed that ABCG2 is an important uric acid transporter. This review discusses the relevance of ABCG2 polymorphisms in gout, possible etiological mechanisms, and treatment approaches. The 141K ABCG2 urate-increasing variant causes instability in the nucleotide-binding domain, leading to decreased surface expression and function...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28458572/pharmacogenetic-testing-revisited-5-nuclease-real-time-polymerase-chain-reaction-test-panels-for-genotyping-cyp2d6-and-cyp2c19
#8
Jens Borggaard Larsen, Jan Borg Rasmussen
Due to their involvement in the metabolization of commonly prescribed psychopharmaceutical drugs, the cytochrome oxidase genes CYP2D6 and CYP2C19 are extensive targets for pharmacogenetic testing. The existence of common allelic variants allows the prediction of a metabolic phenotype based on a genotype result, hereby supplying a clinical tool for optimizing prescription and minimizing adverse effects. In this study, we present the development of two 5' nuclease real-time polymerase chain reaction (PCR) test panels, capable of detecting eight of the most clinically relevant alleles of the CYP2D6 gene (*2, *3, *4, *6, *9, *10, 17, *41) and the three most common nonfunctional alleles of CYP2C19 (*2, *3, *4)...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28442925/cyp2c19-polymorphism-frequency-in-russian-patients-in-central-russia-and-siberia-with-acute-coronary-syndrome
#9
Karin B Mirzaev, Elena M Zelenskaya, Olga L Barbarash, Vladimir I Ganyukov, Konstantin A Apartsin, Natalya O Saraeva, Konstantin Y Nikolaev, Kristina A Ryzhikova, Galina I Lifshits, Dmitry A Sychev
PURPOSE: The aim of this study is to investigate the frequency of CYP2C19*2, *3 allelic variants, associated with poor response to clopidogrel, and CYP2C19*17, associated with excessive response to clopidogrel, in patients with acute coronary syndrome (ACS) from Siberia and Moscow regions of Russia. PATIENTS AND METHODS: The study included 512 ACS patients who were subsequently treated with coronary arterial stenting. The subjects assigned were from the cities of Central (Novosibirsk, Kemerovo), Eastern (Irkutsk), Northern (Surgut) Siberia regions and from Moscow region...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28435308/association-of-the-ppp3ca-c-249g-a-variant-with-clinical-outcomes-of-tacrolimus-based-therapy-in-kidney-transplant-recipients
#10
Patricia C Salgado, Fabiana Dv Genvigir, Claudia R Felipe, Helio Tedesco-Silva, Jose O Medina-Pestana, Sonia Q Doi, Mario H Hirata, Rosario Dc Hirata
BACKGROUND: The effects of genetic variants related to the pharmacodynamic mechanisms of immunosuppressive drugs on their therapeutic efficacy and safety have been poorly explored. This study was performed to investigate the influence of the PPP3CA c.249G>A variant on the clinical outcomes of kidney transplant recipients. PATIENTS AND METHODS: A total of 148 Brazilian patients received tacrolimus (TAC)-based immunosuppressive therapy for 90 days post-kidney transplantation...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28435307/comparison-of-cyp2c9-cyp2c19-cyp2d6-abcb1-and-slco1b1-gene-polymorphism-frequency-in-russian-and-nanai-populations
#11
Dmitrij Alekseevitch Sychev, Grigorij Nikolaevich Shuev, Salavat Shejhovich Suleymanov, Kristina Anatol'evna Ryzhikova, Karin Badavievich Mirzaev, Elena Anatol'evna Grishina, Natalia Evgenievna Snalina, Zhannet Alimovna Sozaeva, Anton Mikhailovich Grabuzdov, Irina Andreevna Matsneva
BACKGROUND: The efficiency and safety of drug therapy depends on the peculiarities of functioning of the P450 cytochrome group and transporting proteins. There are significant differences for single-nucleotide polymorphism (SNP) frequency. MATERIALS AND METHODS: We studied the peculiarities of P450 cytochrome polymorphisms, SLCO1B1 transporting protein, and P-glycoprotein carriage in healthy volunteers in the Nanai ethnic group living in Russia, and compared them to the carriage of SNPs in the Russian population according to literature data...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28405170/hepatitis-c-virus-pharmacogenomics-in-latin-american-populations-implications-in-the-era-of-direct-acting-antivirals
#12
REVIEW
Julieta Trinks, Mariela Caputo, María L Hulaniuk, Daniel Corach, Diego Flichman
In recent years, great progress has been made in the field of new therapeutic options for hepatitis C virus (HCV) infection. The new direct-acting antiviral agents (DAAs) represent a great hope for millions of chronically infected individuals because their use may lead to excellent cure rates with fewer side effects. In Latin America, the high prevalence of HCV genotype 1 infection and the significant association of Native American ancestry with risk predictive single-nucleotide polymorphisms (SNPs) in IFNL4 and ITPA genes highlight the need to implement new treatment regimens in these populations...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28392709/mthfr-polymorphisms-in-childhood-acute-lymphoblastic-leukemia-influence-on-methotrexate-therapy
#13
REVIEW
Maitane Umerez, Ángela Gutierrez-Camino, Carmen Muñoz-Maldonado, Idoia Martin-Guerrero, Africa Garcia-Orad
Methotrexate (MTX) is an important component in the therapy used to treat childhood acute lymphoblastic leukemia (ALL). Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme for MTX pharmacokinetics. Two single-nucleotide polymorphisms in MTHFR gene, C677T and A1298C, affecting MTHFR activity, have been widely studied as potential markers of MTX toxicity and/or outcome in pediatric ALL. In this review, we show that the majority of published reports do not find association or present opposite effect. Therefore, MTHFR C677T and A1298C polymorphisms do not seem to be good markers of MTX-related toxicity and/or outcome in pediatric ALL...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28280378/ugt1a1-polymorphisms-in-cancer-impact-on-irinotecan-treatment
#14
REVIEW
Masashi Takano, Toru Sugiyama
Mutations in the UGT1A1 gene have been implicated in Gilbert syndrome, which shows mild hyperbilirubinemia, and a more aggressive childhood subtype, Crigler-Najjar syndrome. To date, more than 100 variants have been found in the UGT1A1 gene. Among them, UGT1A1*28 and UGT1A1*6 have been reported to be associated with severe toxicities in patients treated with irinotecan-based chemotherapy by increasing the dose of SN-38 (7-ethyl-10-hydroxycamptothecin), an active form of irinotecan. Many association studies and meta-analyses have demonstrated the contribution of UGT1A1*28 and UGT1A1*6 polymorphisms to the toxicities caused by irinotecan-based therapy...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28260941/is-there-evidence-that-we-should-screen-the-general-population-for-lynch-syndrome-with-genetic-testing-a-systematic-review
#15
REVIEW
Anya E R Prince, R Jean Cadigan, Gail E Henderson, James P Evans, Michael Adams, Emmanuel Coker-Schwimmer, Dolly C Penn, Marcia Van Riper, Giselle Corbie-Smith, Daniel E Jonas
BACKGROUND: The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28243137/increased-risk-of-hospitalization-for-ultrarapid-metabolizers-of-cytochrome-p450-2d6
#16
Paul Y Takahashi, Euijung Ryu, Jyotishman Pathak, Gregory D Jenkins, Anthony Batzler, Matthew A Hathcock, John Logan Black, Janet E Olson, James R Cerhan, Suzette J Bielinski
BACKGROUND: Cytochrome P450 2D6 (CYP2D6) is responsible for the metabolism of clinically used drugs and other environmental exposures, but it is unclear whether the CYP2D6 phenotype is associated with adverse health outcomes. The aim was to determine the association of CYP2D6 phenotype with the risk of hospitalization or an emergency department (ED) visit among a group of primary care patients. METHODS: In this study, 929 adult patients underwent CYP2D6 testing...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28203102/the-hla-a-31-01-allele-influence-on-carbamazepine-treatment
#17
REVIEW
Vincent Lai Ming Yip, Munir Pirmohamed
Carbamazepine (CBZ) is an effective anticonvulsant that can sometimes cause hypersensitivity reactions that vary in frequency and severity. Strong associations have been reported between specific human leukocyte antigen (HLA) alleles and susceptibility to CBZ hypersensitivity reactions. Screening for HLA-B*15:02 is mandated in patients from South East Asia because of a strong association with Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). HLA-A*31:01 predisposes to multiple phenotypes of CBZ hypersensitivity including maculopapular exanthema, hypersensitivity syndrome, and SJS/TEN in a range of populations including Europeans, Japanese, South Koreans and Han Chinese, although the effect size varies between the different phenotypes and populations...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28203101/prevalence-of-clinically-actionable-genotypes-and-medication-exposure-of-older-adults-in-the-community
#18
Nilofar Daneshi, Elizabeth Holliday, Stephen Hancock, Jennifer J Schneider, Rodney J Scott, John Attia, Elizabeth A Milward
This study analyzed clinically actionable pharmacogenotypes for clopidogrel, warfarin, statins, thiopurines, and tacrolimus using microarray data for 2121 participants (55-85 years) from the Australian Hunter Community Study (HCS). At least 74% of participants (95% confidence interval [CI]: 72%-76%) had strong level evidence for at least one medium- or high-risk actionable genotype that would trigger a change in standard therapy under current international recommendations. About 14% of these participants (95% CI: 12%-16%) were taking medication potentially affected by the genotype in question...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28053552/diet-and-lifestyle-factors-associated-with-mirna-expression-in-colorectal-tissue
#19
Martha L Slattery, Jennifer S Herrick, Lila E Mullany, John R Stevens, Roger K Wolff
MicroRNAs (miRNAs) are small non-protein-coding RNA molecules that regulate gene expression. Diet and lifestyle factors have been hypothesized to be involved in the regulation of miRNA expression. In this study it was hypothesized that diet and lifestyle factors are associated with miRNA expression. Data from 1,447 cases of colorectal cancer to evaluate 34 diet and lifestyle variables using miRNA expression in normal colorectal mucosa as well as for differential expression between paired carcinoma and normal tissue were used...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/27942231/cyp2d6-polymorphisms-and-their-influence-on-risperidone-treatment
#20
REVIEW
Apichaya Puangpetch, Natchaya Vanwong, Nopphadol Nuntamool, Yaowaluck Hongkaew, Monpat Chamnanphon, Chonlaphat Sukasem
Cytochrome P450 enzyme especially CYP2D6 plays a major role in biotransformation. The interindividual variations of treatment response and toxicity are influenced by the polymorphisms of this enzyme. This review emphasizes the effect of CYP2D6 polymorphisms in risperidone treatment in terms of basic knowledge, pharmacogenetics, effectiveness, adverse events, and clinical practice. Although the previous studies showed different results, the effective responses in risperidone treatment depend on the CYP2D6 polymorphisms...
2016: Pharmacogenomics and Personalized Medicine
journal
journal
42543
1
2
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"