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Articles tagged "Gene polymorphism"

  • 2022 American Transplant Congress

    A Pathway for Establishing Etiology of Kidney Failure: An Academic Transplant Center’s Experience with a Broad Kidney Gene Panel

    R. Sodhi1, K. Brossart2, A. Desai1, D. J. Arwindekar1, H. Tabriziani2, S. Akkina1

    1Loyola University Medical Center, Maywood, IL, 2Natera, Inc., Austin, TX

    *Purpose: Assessing genetic causes of kidney failure can inform pre-transplant decision making and may improve post-transplant outcomes. Here we describe an academic transplant center’s experience…
  • 2022 American Transplant Congress

    Protocolized, Broad-Based Renal Genetic Testing in the Management of Patients at a Transplant Center

    V. Paramasivam1, P. Shehzad1, B. Greco1, K. Gaj2, M. Germain3

    1Baystate Medical Center, Springfield, MA, 2Natera, Inc., Austin, TX, 3Renal Transplant Associates of New England, Springfield, MA

    *Purpose: Studies show that ~10% of adult chronic kidney diseases (CKD) cases have genetic etiologies. In the nephrology setting, the use of a broad, unbiased…
  • 2021 American Transplant Congress

    A Single Nucleotide Polymorphism within the FCGR3A 158 F/V Gene is Associated with Decreased Survival of Renal Allografts with Chronic Active Antibody-Mediated Rejection

    N. H. Litjens, A. M. Peeters, J. A. Kal-van Gestel, M. Klepper, M. G. Betjes

    Internal Medicine, Nephrology and Transplantation, Erasmus MC, University Medical Center, Rotterdam, Netherlands

    *Purpose: Long-term allograft survival has shown little improvement over the last decades. An important factor compromising long-term allograft survival in kidney transplantation is chronic active…
  • 2021 American Transplant Congress

    Cyp3a5 Extensive Metabolizer Phenotype May be Associated with an Increase in Class 2 Donor Specific Antibodies and Antibody-Mediated Rejection

    S. Mirza1, N. Wilson2, J. Van Zyl2, P. Nguyen2, T. Sam2, S. Hall2, M. Askar2, R. Patel2

    1Texas Tech Univeristy Health Sciences Center Jerry H. Hodge School of Pharmacy, Dallas, TX, 2Baylor University Medical Center at Dallas, Dallas, TX

    *Purpose: Tacrolimus (TAC) metabolism is highly dependent on CYP3A5, yet there is limited data on the effect of CYP3A5 genetic polymorphisms in heart transplant recipients…
  • 2021 American Transplant Congress

    Higher Number of Tacrolimus Dose Adjustments and Trough Level Measurements in Kidney Transplant Recipients with CYP3A5*1 Alleles

    K. Reininger1, G. Onyeaghala2, T. Anderson-Haag1, B. Wu2, W. Guan2, C. R. Dorr2, R. Remmel2, R. Mannon3, A. Matas2, W. Oetting2, A. Israni1, P. Stahler1, P. Jacobson2

    1Hennepin County Medical Center, Minneapolis, MN, 2University of Minnesota, Minneapolis, MN, 3University of Nebraska Medical Center, Omaha, NE

    *Purpose: Tacrolimus (TAC) metabolism is dependent on the functional status of the cytochrome P450 family enzyme CYP3A5 which has three common loss of function (LoF)…
  • 2021 American Transplant Congress

    Extreme Phenotype Sampling and Next Generation Sequencing to Identify Genetic Variants Associated with Tacrolimus Metabolism in African American Kidney Transplant Recipients

    C. R. Dorr1, B. Guo2, B. Wu2, J. Abrahante2, D. Schladt3, R. Remmel2, W. Guan2, A. Muthusamy3, G. Onyeaghala3, N. Pankratz2, A. Matas2, R. Mannon4, W. Oetting2, P. Jacobson2, A. K. Israni3

    1Hennepin Healthcare Research Institute, Minneapolis, MN, 2University of Minnesota, Minneapolis, MN, 3Nephrology, Hennepin Healthcare Research Institute, Minneapolis, MN, 4University of Nebraska Medical Center, Omaha, NE

    *Purpose: Tacrolimus (TAC) pharmacogenomics studies identified common genetic variants that alter TAC troughs suggesting strategic dosing for specific populations. Common variants and clinical factors explain…
  • 2020 American Transplant Congress

    Attempted Validation of Lims1 Variant Rs893403 with Acute Rejection Risk

    W. S. Oetting1, G. Weihua1, C. R. Dorr1, R. B. Mannon2, A. J. Matas1, P. A. Jacobson1, A. K. Israni1

    1University of Minnesota, Minneapolis, MN, 2University of Alabama, Birmingham, AL

    *Purpose: Acute rejection (AR) in kidney allograft recipients is a significant risk factor for reduced graft survival. Identifying individuals at risk for AR could facilitate…
  • 2020 American Transplant Congress

    Pre-Transplant Pharmacogenetics Identifies CYP3A4 and CYP3A5 Heterogeneity among Caucasian Kidney Transplant Recipients

    N. Oliver1, L. Lindberg1, S. LeCorchick1, D. Morris1, S. Anand1, T. Srinivas2

    1Intermountain Medical Center, Murray, UT, 2University Hospitals Cleveland Medical Center, Cleveland, OH

    *Purpose: Tacrolimus has always been dosed based on therapeutic drug monitoring, however pharmacogenomics is becoming increasingly more utilized in the era of precision based medicine…
  • 2020 American Transplant Congress

    Precision Dosing for Tacrolimus Using Genotypes and Clinical Factors

    M. Al-Kofahi1, W. Oetting1, A. Israni2, D. Schladt3, W. Guan4, B. Wu4, C. Dorr5, R. Remmel6, R. Mannon7, N. Pankratz8, A. Matas9, P. Jacobson1

    1Experimental and Clinical Pharmacology, Univ of MN, College of Pharmacy, Minneapolis, MN, 2Nephrology, Univ of MN and Hennepin HealthCare, Minneapolis, MN, 3Hennepin HealthCare Research Institute, Hennepin HealthCare, Minneapolis, MN, 4Biostatistics, Univ of MN, Minneapolis, MN, 5Nephrology, Hennepin HealthCare, Minneapolis, MN, 6Medicinal Chemistry, Univ of MN, College of Pharmacy, Minneapolis, MN, 7Nephrology, Univ of Alabama, Minneapolis, MN, 8Lab Medicine Pathology, Univ of MN, Minneapolis, MN, 9Surgery, Univ of MN, Minneapolis, MN

    *Purpose: Variants in CYP3A4/5 genes, clinical factors and drug-drug interactions are associated with tacrolimus (TAC) clearance and dose. This results in high intra- and inter-…
  • 2020 American Transplant Congress

    Gasdermin-D Mutation is Protective against Renal Ischemia Reperfusion Injury

    J. Li, N. Rogers, S. Alexander

    Centre for Transplant and Renal Research, Westmead Institute for Medical Research, Westmead, Australia

    *Purpose: Pyroptosis, a pro-inflammatory form of cell death, is dependent on membrane pore formation through the assembly of cleaved Gasdermin-D molecules. We hypothesized that this…
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