Nathalie K Zgheib

American University of Beirut, Beyrouth, Beyrouth, Lebanon

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Publications (31)78.53 Total impact

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    ABSTRACT: Tamoxifen is the standard-of-care treatment for estrogen receptor-positive premenopausal breast cancer. We examined tamoxifen metabolism via blood metabolite concentrations and germline variations of CYP3A5, CYP2C9, CYP2C19 and CYP2D6 in 587 premenopausal patients (Asians, Middle Eastern Arabs, Caucasian-UK; median age 39 years) and clinical outcome in 306 patients. N-desmethyltamoxifen (DM-Tam)/(Z)-endoxifen and CYP2D6 phenotype significantly correlated across ethnicities (R(2): 53%, P<10(-77)). CYP2C19 and CYP2C9 correlated with norendoxifen and (Z)-4-hydroxytamoxifen concentrations, respectively (P<0.001). DM-Tam was influenced by body mass index (P<0.001). Improved distant relapse-free survival (DRFS) was associated with decreasing DM-Tam/(Z)-endoxifen (P=0.036) and increasing CYP2D6 activity score (hazard ratio (HR)=0.62; 95% confidence interval (CI), 0.43-0.91; P=0.013). Low (<14 nM) compared with high (>35 nM) endoxifen concentrations were associated with shorter DRFS (univariate P=0.03; multivariate HR=1.94; 95% CI, 1.04-4.14; P=0.064). Our data indicate that endoxifen formation in premenopausal women depends on CYP2D6 irrespective of ethnicity. Low endoxifen concentration/formation and decreased CYP2D6 activity predict shorter DRFS.The Pharmacogenomics Journal advance online publication, 5 August 2014; doi:10.1038/tpj.2014.34.
    The pharmacogenomics journal. 08/2014;
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    ABSTRACT: The aim of this study is to analyze polymorphisms in genes involved in 6-mercaptopurine detoxification (TPMT); methotrexate (MTX) metabolism including ABCB1 (or MDR1), ABCC2, SLC19A1 (or RFC1), and SLCO1B1; and the MTX effect mainly MTHFR and TYMS, and to assess whether these polymorphisms are predictors of treatment toxicity and/or MTX clearance.
    Pharmacogenetics and Genomics 08/2014; 24(8):387-396. · 3.61 Impact Factor
  • Zainab Awada, Safaa Ossaily, Nathalie K. Zgheib
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    ABSTRACT: In this manuscript, we review the literature on the nutrigenetics and pharmacogenetics of vitamin D pathways, with a focus on genes involved in the pharmacokinetic and pharmacodynamic pathways of vitamin D as they have been major research targets. These include: VDR, CYP2R1, CYP27B1, DHCR7/NADSYN1, GC and CYP24A1. So far only 2 genome wide associations studies evaluated the potential role of genetic polymorphisms in the variability in 25 hydroxy vitamin D (25(OH)D) levels. Most of the evidence is based on the candidate gene approach with some conflicting results when it comes to effect size and associating disease outcome with 25(OH)D levels and genetic polymorphisms. Moreover, very little has been done to look at the effect of significant polymorphisms on the response to vitamin D supplementation. Further research is needed on larger population samples of different ethnicities to resolve some of the controversies. In addition, emerging technologies such as next generation sequencing may be a better genotyping alternative in order to detect rare but potentially important genetic variants. Functional studies are also needed to better understand the association results. This includes coupling genotyping data with gene expression studies as well as epigenetic evaluations.
    Current Pharmacogenomics and Personalized Medicine (Formerly Current Pharmacogenomics) 01/2014; 12(2).
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    ABSTRACT: Relative to western populations, the percentage of women diagnosed with breast cancer at a young age in Lebanon is high. While the younger age of the Lebanese population compared to the West certainly contributes to this difference, potential genetic, reproductive and/or biological factors likely play an important role. The objective of this study is to investigate the contribution of miRNAs in this setting through the analysis of the expression of five reported dysregulated miRNAs, miR-148b, miR-10b, miR-21, miR-221, and miR-155 in 20 normal and 57 cancerous breast tissues from Lebanese breast cancer patients. After finding their relative expression by quantitative reverse transcription real time PCR, the results were analyzed with respect to the patients' clinical and histopathology presentations. Compared to normal breast tissues, significant upregulation of miR-155, miR-21 and miR-148b, notable downregulation of miR-10b and non-significant expression of miR-221 were observed in tumor tissues. Moreover, miR-10b was significantly underexpressed in estrogen/progesterone receptor (ER/PR) negative tumors relative to ER/PR positive tumor tissues. miR-155 was also significantly overexpressed in postmenopausal patients and in those of age at diagnosis greater than 40 years old as well as in PR negative or in human epidermal growth factor 2 (Her2) positive tissues. This study is the first one to report miRNA expression patterns in Lebanese breast cancer patients. We found that differential miRNA expression in breast cancer could be variable between Lebanese and Western populations. miR-10b was positively correlated with the ER and PR status and miR-155 could be a noteworthy biomarker for the menopausal state, age at diagnosis, PR and Her2 status. Hence, miRNA can be used as biomarkers for early breast cancer detection.
    PLoS ONE 01/2014; 9(9):e107566. · 3.53 Impact Factor
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    ABSTRACT: The unpredictability of acenocoumarol dose needed to achieve target blood thinning level remains a challenge. We aimed to apply and compare a pharmacogenetic least-squares model (LSM) and artificial neural network (ANN) models for predictions of acenocoumarol dosing. LSM and ANN models were used to analyze previously collected data on 174 participants (mean age: 67.45 SD 13.49 years) on acenocoumarol maintenance therapy. The models were based on demographics, lifestyle habits, concomitant diseases, medication intake, target INR, and genotyping results for CYP2C9 and VKORC1. LSM versus ANN performance comparisons were done by two methods: by randomly splitting the data as 50 % derivation and 50 % validation cohort followed by a bootstrap of 200 iterations, and by a 10-fold leave-one-out cross-validation technique. The ANN-based pharmacogenetic model provided higher accuracy and larger R value than all other LSM-based models. The accuracy percentage improvement ranged between 5 % and 24 % for the derivation cohort and between 12 % and 25 % for the validation cohort. The increase in R value ranged between 6 % and 31 % for the derivation cohort and between 2 % and 31 % for the validation cohort. ANN increased the percentage of accurately dosed subjects (mean absolute error ≤1 mg/week) by 14.1 %, reduced the percentage of mis-dosed subjects (mean absolute error 2-3 mg/week) by 7.04 %, and reduced the percentage of grossly mis-dosed subjects (mean absolute error ≥4 mg/week) by 24 %. ANN-based pharmacogenetic guidance of acenocoumarol dosing reduces the error in dosing to achieve target INR. These results need to be ascertained in a prospective study.
    European Journal of Clinical Pharmacology 12/2013; · 2.74 Impact Factor
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    ABSTRACT: Abstract We investigated the association of genetic polymorphisms in drug metabolizing enzymes (DMEs) and transporters in patients with docetaxel-induced febrile neutropenia, by a new high-throughput DMEs and transporters (DMETPlus) microarray platform, characterizing 1936 single nucleotide polymorphisms (SNPs) in 225 genes. We recruited 100 Lebanese breast cancer patients from a consecutive cohort of 277 patients who received docetaxel either alone, or in combination with trastuzumab. Out of 100 patients, 18 had developed febrile neutropenia (cases). They were age- and treatment- matched with 18 patients who did not develop febrile neutropenia on docetaxel (controls). We found that 12 SNPs in seven genes (ABCC6, ABCG1, ABCG2, CYP1A2, CYP2D6, FMO2, and FMO3) were significantly associated with febrile neutropenia after docetaxel treatment. Many of these SNPs have not been previously reported to be associated with toxicity due to docetaxel treatment. Interestingly, one SNP in the FMO3 gene (rs909530) was significantly associated with three clinical endpoints: febrile neutropenia, reduced absolute neutrophil count, and hemoglobin reduction. To the best of our knowledge, this is the first study that evaluated the effect of a large array of nearly 2000 polymorphisms in DMEs and transporters on docetaxel toxicity in breast cancer patients, and in a previously understudied population. Additionally, it attests to the feasibility of genomics research in low- and middle-income countries (LMICs). In light of the current global epidemic of noncommunicable diseases (NCDs) such as breast cancer impacting LMICs, we suggest pharmacogenomics is considered as an integral part of the global health research agenda for NCDs and personalized therapeutics.
    Omics: a journal of integrative biology 06/2013; · 2.29 Impact Factor
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    ABSTRACT: Changes in the activity of drug metabolizing enzymes (DMEs) are potentially associated with cancer risk. This relationship is attributed to their involvement in the bioactivation of multiple procarcinogens or the metabolism of multiple substrates including an array of xenobiotics and environmental carcinogens. 326 Lebanese women of whom 99 were cancer free (controls) and 227 were diagnosed with breast cancer (cases) were included. Blood for DNA was collected and medical charts were reviewed. Three genotyping methods were employed including: (1) restriction fragment length polymorphism (RFLP) for CYP2E1*5B, CYP2E1*6, NAT2*5 and NAT2*6; (2) gel electrophoresis for GSTM1 and GSTT1; and (3) real-time PCR for GSTP1 Ile/Val polymorphism. We analyzed the relationship between genetic susceptibilities in selected xenobiotic metabolizing genes and breast cancer risk. Allele frequencies were fairly similar to previously reported values from neighboring populations with relevant migration routes. There were no statistically significant differences in the distribution of variant carcinogen metabolizing genes between cases and controls even after adjusting for age at diagnosis, menopausal status, smoking, and alcohol intake. Despite its limitations, this is the first study that assesses the role of genetic polymorphisms in DMEs with breast cancer in a sample of Lebanese women. Further studies are needed to determine the genetic predisposition and gene-environment interactions of breast cancer in this population.
    Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 04/2013; · 3.90 Impact Factor
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    ABSTRACT: Abstract Biomedical science in the 21(st) century is embedded in, and draws from, a digital commons and "Big Data" created by high-throughput Omics technologies such as genomics. Classic Edisonian metaphors of science and scientists (i.e., "the lone genius" or other narrow definitions of expertise) are ill equipped to harness the vast promises of the 21(st) century digital commons. Moreover, in medicine and life sciences, experts often under-appreciate the important contributions made by citizen scholars and lead users of innovations to design innovative products and co-create new knowledge. We believe there are a large number of users waiting to be mobilized so as to engage with Big Data as citizen scientists-only if some funding were available. Yet many of these scholars may not meet the meta-criteria used to judge expertise, such as a track record in obtaining large research grants or a traditional academic curriculum vitae. This innovation research article describes a novel idea and action framework: micro-grants, each worth $1000, for genomics and Big Data. Though a relatively small amount at first glance, this far exceeds the annual income of the "bottom one billion"-the 1.4 billion people living below the extreme poverty level defined by the World Bank ($1.25/day). We describe two types of micro-grants. Type 1 micro-grants can be awarded through established funding agencies and philanthropies that create micro-granting programs to fund a broad and highly diverse array of small artisan labs and citizen scholars to connect genomics and Big Data with new models of discovery such as open user innovation. Type 2 micro-grants can be funded by existing or new science observatories and citizen think tanks through crowd-funding mechanisms described herein. Type 2 micro-grants would also facilitate global health diplomacy by co-creating crowd-funded micro-granting programs across nation-states in regions facing political and financial instability, while sharing similar disease burdens, therapeutics, and diagnostic needs. We report the creation of ten Type 2 micro-grants for citizen science and artisan labs to be administered by the nonprofit Data-Enabled Life Sciences Alliance International (DELSA Global, Seattle). Our hope is that these micro-grants will spur novel forms of disruptive innovation and genomics translation by artisan scientists and citizen scholars alike. We conclude with a neglected voice from the global health frontlines, the American University of Iraq in Sulaimani, and suggest that many similar global regions are now poised for micro-grant enabled collective innovation to harness the 21(st) century digital commons.
    Omics: a journal of integrative biology 04/2013; 17(4):161-72. · 2.29 Impact Factor
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    ABSTRACT: The aim of this study is to investigate the effect of CYP2C19 polymorphism and co-therapy with rabeprazole or esomeprazole on the anti-platelet effect of clopidogrel. Patients receiving clopidogrel 75 mg ± rabeprazole or esomeprazole underwent genotyping for CYP2C19*2 and *3, and vasodilator stimulated phosphoprotein (VASP) testing to measure platelet reactivity index (PRI). 239 consecutive patients were enrolled: 92 clopidogrel (C group), 94 clopidogrel + rabeprazole (CR), and 53 clopidogrel + esomeprazole (CE). 45 patients had loss of function polymorphism (LOF) (43 heterozygous; 2 homozygous mutant for CYP2C19*2). The mean platelet reactivity index (PRI) was 20.7±21.9% in the C group, 19.1±20.9% in the CR group, and 24.5±22.9% in the CE group (p= NS). High-on-treatment Platelet Reactivity (HPR), defined as PRI>50%, was observed in 12 (13.0%), 13 (13.8%), and 10 (18.9%) patients on C, CR, and CE respectively (p=NS). HPR was similar in rapid metabolizers between groups. On multivariate logistic regression, neither CYP2C19 LOF alleles nor PPI co-therapy were associated with HPR. The use of PPIs was indicated in 30.6% of recipients. As a conclusion, CYP2C19*2 LOF allele and the use of esomeprazole or rabeprazole have no effect on the action of clopidogrel.
    Journal of cardiovascular pharmacology 03/2013; · 2.83 Impact Factor
  • Gillian Bartlett, Jumana Antoun, Nathalie K Zgheib
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    ABSTRACT: Theranostics represents a broadening in the scope of personalized medicine to include companion diagnostics for health interventions ranging from drugs to vaccines, as well as individual susceptibility to disease. Surprisingly, in the course of this broadening of personalized medicine discourse, relatively little attention has been paid to primary care (as compared with tertiary healthcare settings) despite its vast patient population and being a crucial entry point to health services. Recent advances in pharmacogenomics (PGx), a classical theranostics application whereby genotyping and/or gene expression-based tests are used for targeted or optimal therapy, revealed new opportunities to characterize more precisely human genomic variation and the ways in which it contributes to person-to-person and population variations in drug response. In the immediate foreseeable future, the primary-care physicians are expected to play an ever increasing crucial role in PGx-based prescribing in order to reduce the rates of adverse drug events and improve drug efficacy, yet PGx testing in primary care remains limited. In this article, the authors review the advances in PGx applications, the barriers for their adoption in the clinic from a primary care point of view and the efforts that are being undertaken to move PGx forward in this hitherto neglected application context of theranostic medicine. Finally, the authors propose several salient recommendations, including a 5-year forecast, to accelerate the current convergence between PGx and primary care.
    Expert Review of Molecular Diagnostics 11/2012; 12(8):841-55. · 4.09 Impact Factor
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    Current pharmacogenomics and personalized medicine. 01/2012; 10(2):101-105.
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    ABSTRACT: The purpose of this study was to formulate evidence-based recommendations on whether to deliver the team-based learning (TBL)-designed clinical pharmacology course at the American University of Beirut Faculty of Medicine (AUBFM) during the third year instead of the fourth and final year of the medical curriculum. Between June 2010 and May 2011, AUBFM offered the course to both classes simultaneously to compare their performance. The findings of this endeavor supported the introduction of the course during the third year, first because fourth-year students did not outperform third-year students despite having the advantage of an additional year of clinical experience, and second, third-year teams seemed more likely to develop into better functioning teams. The findings also suggested that simultaneous delivery of TBL sessions to both third- and fourth-year teams was less favorably recommended because of the varying learning pace of both student groups.
    The Journal of Clinical Pharmacology 12/2011; · 2.84 Impact Factor
  • Fatima Ghaddar, Ingolf Cascorbi, Nathalie K Zgheib
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    ABSTRACT: Despite the fast-growing literature and the emerging support from regulatory drug agencies, the translation of pharmacogenetics (PGx) into the clinic is still rather limited; it seems that many existing challenges are yet to be overcome prior to an extensive adoption of PGx-based diagnostics. This article describes the results of an explorative nonrepresentative survey that attempted to evaluate the perceived status quo of, and the obstacles facing, PGx implementation in clinical practice in countries with emerging and developing economies versus countries with advanced economies. This study is a useful starting point to help gain better insight into the international, rather than merely the regional, barriers facing the lag in PGx implementation in the clinic. A more transparent picture about these priorities can be constructed through conducting a similar study on a more representative sample of respondents/participants.
    Pharmacogenomics 07/2011; 12(7):1051-9. · 3.86 Impact Factor
  • N K Zgheib, J A Simaan, R Sabra
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    ABSTRACT: Formal teaching in clinical pharmacology was never part of the curriculum at the American University of Beirut Faculty of Medicine. Based on feedback from students and on recommendations of academic bodies, we have introduced, since June 2008, twice-monthly "rational prescribing" sessions during the required internal medicine rotation in year 4 of medical school. All sessions were designed according to the innovative Team-based Learning format and concluded by having the students practice prescription writing and personal formulary development based on the World Health Organization criteria. Our 18-month experience showed that students were very satisfied with the course and the teaching approach, and that their performance on prescription writing and formulary development had improved. Although further studies are needed to explore the impact of team-based learning on additional performance measures, we recommend it as an effective alternative for teaching clinical pharmacology in medical schools.
    The Journal of Clinical Pharmacology 07/2011; 51(7):1101-11. · 2.84 Impact Factor
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    ABSTRACT: Objective To use cost-utility analysis as an application of the Marginal Utility Theory whereby optimal drug use in terms of optimal drug cost and volume is estimated based on the diminishing marginal utility conditions.Methods Data were collected between 2003 and 2005 from the billing system of two large hospitals that belong to the University of Pittsburgh Medical Center. Domains of interest were stored and correlated in a multidimensional, highly structured Drug Use and Management System (DRUMS) developed by the Center for Clinical Pharmacology at the University of Pittsburgh. Optimal in-hospital drug use is achieved when there are equal marginal rates of substitution between in-hospital drug use and therapeutic outcome subject to diminishing marginal utility conditions.Key findings Patient disposition after hospitalization and length of stay appeared to be reliable indicators of patient therapeutic outcome. Drug cost and volume were over-extended in patients with a length of stay exceeding 20 days and disposition into long-term care, implying over-utilization and/or over-prescribing of drugs. All categories of length of stay and disposition were investigated; they each present a different potential for cost-utility optimization.Conclusion We recommend that entrepreneurial hospital strategists adopt knowledge systems such as DRUMS to analyse aggregate data, and use cost utility as a tool for aggregate in-hospital drug use analyses.
    Journal of Pharmaceutical Health Services Research. 06/2011; 2(2).
  • Nathalie K Zgheib, Thalia Arawi, Rami A Mahfouz, Ramzi Sabra
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    ABSTRACT: Pharmacogenetics has emerged as a new tool for the optimization of drug therapy. Although the pharmacogenetics concept was first recognized at least 50 years ago, clinical testing to determine pharmacogenetic traits is still relatively rare, and many hurdles are markedly slowing its development. There is a lot of literature and speculation about potential ethical challenges in genetic and pharmacogenetic testing, yet few researchers have actually examined the attitudes of health care professionals regarding the clinical application of these tests. In this article, we aim to review the current literature on health care professionals' perceptions of the role of pharmacogenetic data and describe the attitudes of medical students when faced with a clinical pharmacogenetic testing scenario. A group of 59 third-year medical students from the American University of Beirut Medical Center were asked to answer a questionnaire about pharmacogenetic testing after being exposed to a clinical scenario of a patient who was diagnosed with mild Alzheimer Disease (AD) and hence was a candidate for therapy with one of the acetylcholinesterase (AChE) inhibitors. The students indicated that they would respect patients' confidentiality and inform them about the test results and therapeutic plan, but they would not be as open about bad prognoses. They did not agree on the therapeutic plan that would follow a pharmacogenetic test result and were uncertain about potential patient discrimination in insurability. Our and others' findings demonstrate the existence and seriousness of several challenges pertaining to pharmacogenetic applications in the clinical setting. Further training and education are needed for health care professionals, since they are the ones who will most probably request these tests in the near future.
    Molecular Diagnosis & Therapy 04/2011; 15(2):115-22. · 2.59 Impact Factor
  • Nathalie K. Zgheib, Fatima Ghaddar, Ramzi Sabra
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    ABSTRACT: Pharmacogenetics (PGx) is a growing field of research and scholarship that promises to have important applications in the clinic, particularly in relation to individualization of drug therapy. Education in PGx in health professional schools, however, appears to be lagging behind the rapid advances in research. In this paper, we aim at assessing the current PGx teaching provided and recommend a cost effective way of improving it. We first review the current status of PGx teaching around the world as reported in the literature. We note the paucity of such reports in general, and their near total absence from institutions in low and middle-income countries (LMICs). We then elaborate on our experience at the American University of Beirut's Faculty of Medicine (AUBFM), where a longitudinal approach was taken to introduce the concepts and develop the skills related to PGx. In addition, we report on our use of the innovative, cost effective and highly interactive Team Based Learning (TBL) method of teaching PGx, which emphasizes individual accountability, team work, active learning and problem solving. We conclude by proposing approaches, resources and general recommendations for implementing educational activities in PGx that are particularly, but not exclusively, relevant for institutions in the LMICs. Lastly, we suggest that as with health, education needs are global but implementation is always local. This means the future education efforts in pharmacogenomics and personalized medicine need to adopt a sociological approach whereby local and regional nuances that facilitate or hinder learning and knowledge uptake are also taken into account.
    Current Pharmacogenomics and Personalized Medicine (Formerly Current Pharmacogenomics) 02/2011; 9(1):25-40.
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    ABSTRACT: The authors assessed the impact of CYP2C9*2, CYP2C9*3, and/or VKORC1-1639G>A/1173C>T single-nucleotide polymorphisms on oral anticoagulants in a Lebanese population. This study recruited 231 Lebanese participants on long-term warfarin or acenocoumarol maintenance therapy with an international normalized ratio (INR) monitored at the American University of Beirut Medical Center. CYP2C9 and VKORC1 variant alleles were screened by real-time PCR. Plasma R- and S-warfarin and R- and S-acenocoumarol levels were assayed using high-performance liquid chromatography. The variant allele frequencies of CYP2C9*2, CYP2C9*3, and VKORC1 -1639G>A/1173C>T were 15.4%, 7.8%, and 52.4%, respectively. Fifty-five participants were excluded from analysis because of nontherapeutic INR values at recruitment, leaving 43 participants taking warfarin and 133 taking acenocoumarol. There was a significant decrease in the weekly maintenance dose of both drugs with CYP2C9 and VKORC1 variants when compared with wild-type patients. CYP2C9*2 had the least impact on the response to both drugs. The concentrations of R- and S-warfarin in plasma were significantly correlated with CYP2C9 genotypes. For acenocoumarol, time to reach target INR was more prolonged in patients carrying any CYP2C9 variant allele but failed to reach statistical significance because of low numbers of patients. There was no association between allelic variants and bleeding events. This is the first pharmacogenetic study of oral anticoagulants in Arabs. The authors showed that both CYP2C9 and VKORC1 polymorphisms are common in Lebanon and influence warfarin and acenocoumarol dose requirements, with the CYP2C9*2 polymorphism having less effect on acenocoumarol, the most commonly used oral anticoagulant in Lebanon.
    The Journal of Clinical Pharmacology 12/2010; 51(10):1418-28. · 2.84 Impact Factor
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    ABSTRACT: several studies have looked at the potential link between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of hypertension and have shown that the DD polymorphism may be associated with a higher prevalence of hypertension. Our objective was to assess for possible association between ACE variants and hypertension in a sample of Lebanese patients. one hundred ninety-two Lebanese subjects were included. DNA was isolated and amplified by polymerase chain reaction. The products were identified by gel electrophoresis according to their size. one hundred fifteen (59.9%) patients were hypertensive and 77 (40.1%) were nonhypertensive with the following genotype frequencies: 43.4% DD, 45.2% ID, and 11.4% II compared with 35.2% DD, 51.9% ID, and 12.9% II, respectively. Age was found to be the most significant risk factor for hypertension. This was more prominent when accounting for ACE genotype; for instance, the DD genotype with age had a significantly higher odds ratio (OR = 11.852; p = 0.001) than the ID genotype with age (OR = 4.599; p = 0.006), II genotype with age (OR = 1.866; p = 0.519), and age alone (OR = 5.558; p = 0.006). our results show that the ACE I/D polymorphism is common in Lebanon, and the combinations of ACE D allele and age is associated with an increased risk of hypertension.
    Genetic Testing and Molecular Biomarkers 10/2010; 14(6):787-92. · 1.44 Impact Factor
  • Jumana Antoun, Nathalie K Zgheib, Khalil Ashkar
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    ABSTRACT: This study assesses Arab Middle Eastern primary care practitioners' (PCPs) use of and referral to clinical genetic testing and counseling, as well as the effect of education on their willingness to utilize or refer to these services. A total of 128 PCPs were surveyed. Data about their demographics, academic background, perceptions about their role in genetic testing and counseling, as well as their use of genetic testing and counseling services were collected. Another survey was distributed to participants who attended a genetics symposium and inquired about their willingness to include these services in their practice. Most of the PCPs rarely or never request genetic testing (64.8%), and 42 (33.6%) have never requested a genetic test. Similarly, 30% have never performed genetic counseling and 34.7% rarely perform genetic counseling. Lack of knowledge and expertise were considered major barriers. After attending the genetics symposium, many PCPs expressed their willingness to start doing genetic testing or referring to genetic testing, and many more answered that they will start counseling or referring to counseling. This study shows that genetic testing and counseling services are underutilized by Arab PCPs in the Middle East. Education may improve their use of and referral to these services.
    Genetic Testing and Molecular Biomarkers 08/2010; 14(4):447-54. · 1.44 Impact Factor

Publication Stats

213 Citations
78.53 Total Impact Points


  • 2010–2014
    • American University of Beirut
      • • Department of Pediatrics and Adolescent Medicine
      • • Department of Pharmacology and Toxicology
      • • Faculty of Medicine
      Beyrouth, Beyrouth, Lebanon
    • Beirut Arab University
      Beyrouth, Beyrouth, Lebanon
  • 2006–2009
    • University of Pittsburgh
      • • Department of Pharmacology and Chemical Biology
      • • Pharmacy and Therapeutics
      Pittsburgh, PA, United States
    • University of Florida
      • College of Pharmacy
      Gainesville, FL, United States