Overview of Pharmacogenetics

Katz, David A.; Bhathena, Anahita

doi:10.1002/0471142905.hg0919s60

Cited by 7 publications

(3 citation statements)

References 83 publications

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“…Pharmacogenetics is the field that investigates the genetic basis of interindividual variability in drug responses [Katz, 2006]. Most pharmacogenetics studies have focused on candidate gene approaches, and among the genes extensively studied are the ones involved in the pharmacokinetics (PK) and the pharmacodynamics (PD) of the drug.…”

Section: Candidate Gene Approachmentioning

confidence: 99%

Genetic variations as cancer prognostic markers: review and update

Savas

Liu

2009

Hum. Mutat.

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Cancer molecular epidemiology traditionally studies the relationship between genetic variations and cancer risk. However, recent studies have also focused on disease outcomes. The application and design of disease outcome studies have been an extension of disease risk assessment. Yet there are a number of unique considerations important in outcome assessments. We review how genetic approaches used for disease susceptibility, such as candidate gene and genome-wide association study (GWAS) approaches, can be adapted carefully to systematically identify cancer prognostic and predictive alleles. We discuss the interrelatedness among the disease susceptibility, treatment response, and prognosis at the genetic level and focus on how the emerging technologies and approaches can uniquely benefit the genetic prognosis studies.

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Section: Candidate Gene Approachmentioning

confidence: 99%

Genetic variations as cancer prognostic markers: review and update

Savas

Liu

2009

Hum. Mutat.

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“…Targeting therapies to patients who are most likely to benefit with minimal adverse events will improve patient care and facilitate the approval of new, innovative medicines (Roses, 2008;Katz and Bhathena, 2009). Furthermore, advances in pharmacogenetic working models is associated with superior individualized care for patients suffering from every condition, especially those with cancer (van Schaik, 2008), cardiovascular diseases (D' Andrea et al, 2008), asthma (Hawkins and Peters, 2008), diabetes (Vella and Camilleri, 2008), and psychiatric or neurological disorders (Kadiev et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant

Khabour

Alzoubi²,

Si³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. The multidrug resistance gene (MDR1 or ABCB1) codes for P-glycoprotein, which plays an important role in regulating absorption, distribution, and elimination of drugs. We examined MDR1 gene variants in 100 unrelated subjects from various regions of Jordan. The MDR1 gene was scanned using direct sequencing. Six rare variants in MDR1 were detected, including a new variant, T3075A. This variant did not affect the protein sequence (synonym for threonine). Among the common SNPs, the frequencies of rs1128503 (C1236T) genotypes were: 0.23 (CC), 0.41 (CT) and 0.36 (TT). For the rs2032582 (G2677T) SNP, genotype frequencies were 0.38 for GG, 0.45 for GT, 0.13 for TT, 0.03 for GA, and 0.01 for TA, whereas for rs1045642 (C3435T), genotype frequencies were 0.17 for CC, 0.5 for CT and 0.33 for TT. The observed distribution of the common variants in the Jordanian population was within the range detected in other populations. These data on MDR1 gene variants in the Jordanian population will be useful for investigations on response to P-glycoprotein substrate drugs.

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“…Consequently, understanding the genetic basis of variable drug responses is important to both mitigating adverse drug reactions and developing new or improved pharmacological therapies. Although many pharmacogenetic variants have been identified from surveys of candidate genes and pathways (Katz and Bhathena 2009), there have been only a few studies that have conducted genomewide mapping (Dolan et al 2004;Watters et al 2004;Perlstein et al 2006;Duan et al 2007;Huang et al 2007;Kim and Fay 2007;Perlstein et al 2007;Bleibel et al 2009;Shukla et al 2009), and many of these have focused on chemotherapy-induced cytotoxicity in human lymphoblastoid cell lines, which in some instances may be susceptible to false-positive associations due to low repeatability (Choy et al 2008). Furthermore, identification of individual genes and their causal variants in human cell lines is a significant challenge.…”

Section: R Esponse To Pharmacological Therapy Varies and Ismentioning

confidence: 99%

A Combined-Cross Analysis Reveals Genes With Drug-Specific and Background-Dependent Effects on Drug Sensitivity in Saccharomyces cerevisiae

Fay

2009

Genetics

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Effective pharmacological therapy is often inhibited by variable drug responses and adverse drug reactions. Dissecting the molecular basis of different drug responses is difficult due to complex interactions involving multiple genes, pathways, and cellular processes. We previously found a single nucleotide polymorphism within cystathionine b-synthase (CYS4) that causes multi-drug sensitivity in a vineyard strain of Saccharomyces cerevisiae. However, not all variation was accounted for by CYS4. To identify additional genes influencing drug sensitivity, we used CYS4 as a covariate and conducted both single-and combined-cross linkage mapping. After eliminating numerous false-positive associations, we identified 16 drug-sensitivity loci, only 3 of which had been previously identified. Of 4 drug-sensitivity loci selected for validation, 2 showed replicated associations in independent crosses, and two quantitative trait genes within these regions, AQY1 and MKT1, were found to have drug-specific and background-dependent effects. Our results suggest that drug response may often depend on interactions between genes with multi-drug and drug-specific effects.

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Overview of Pharmacogenetics

Cited by 7 publications

References 83 publications

Genetic variations as cancer prognostic markers: review and update

Genetic variations as cancer prognostic markers: review and update

Frequency of MDR1 single nucleotide polymorphisms in a Jordanian population, including a novel variant

A Combined-Cross Analysis Reveals Genes With Drug-Specific and Background-Dependent Effects on Drug Sensitivity in Saccharomyces cerevisiae

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