In this study, we aimed to integrate a genetic repository with an existing longitudinal national burn database. We set out two primary objectives, namely (1) to develop standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing multicenter database; and (2) to demonstrate the feasibility of correlating genetic variation to functional outcomes in a pilot study, using the catechol-O-methyltransferase (COMT) gene. Dubbed the worrier/warrior gene, COMT variants have been associated with varying phenotypes of post-traumatic stress, wellbeing, and resilience. Between August 2018 and July 2020, COMT variants were identified for 111 participants from three sites and correlated with their outcome data. We found no association between COMT variants and functional outcomes, likely due to the inadequate sample size. We also asked all potential participants why they consented to or refused genetic analysis. A thematic analysis of responses revealed altruism and personal interest/enthusiasm in the study as top reasons for consenting. Privacy concerns were the most common reason for refusal. In conclusion, we successfully developed standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing database, and we demonstrated the feasibility of conducting a multicenter collaborative study using a centralized lab location.
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http://dx.doi.org/10.3390/ebj5040034 | DOI Listing |
Psychoneuroendocrinology
January 2025
Department of Psychiatry, University Medical Center Groningen, Groningen, the Netherlands.
Background/objective: Raloxifene, a selective estrogen receptor modulator (SERM), may improve symptoms and cognition in schizophrenia spectrum disorders (SSD). Studies have shown inconsistent efficacy, especially in men with SSD. We assessed whether single nucleotide polymorphisms (SNPs) on genes involved in the pharmacodynamics (ESR1 and COMT) and pharmacokinetics (UGT1A8) of raloxifene can explain the heterogeneous treatment response to raloxifene augmentation in patients with SSD.
View Article and Find Full Text PDFJ Genomics
January 2025
Natural Wellness & Pain Relief Center, Grand Blanc, MI, USA.
Genetic variants encoding both low COMT and MTHFR activity are associated with idiopathic scoliosis. The combined impact of and on progression of adolescent idiopathic scoliosis (AIS) is unknown. This study investigated if and low activity variants are associated with AIS progression.
View Article and Find Full Text PDFEur J Clin Pharmacol
January 2025
Department of Pharmaceutical Sciences, University of Piemonte Orientale "A. Avogadro", Largo Donegani 2, 28100, Novara, Italy.
Objective: Several studies have attempted to identify genetic determinants of clinical response to opioids administered during labor or after cesarean section. However, their results were often contrasting. A systematic review and meta-analysis was conducted to quantitatively assess the association between gene polymorphisms and clinical outcomes of opioid administration in the treatment of labor pain and post-cesarean pain.
View Article and Find Full Text PDFForensic Sci Int Genet
December 2024
Service de Pharmacologie-Toxicologie et Pharmacovigilance, Centre Hospitalo-Universitaire d'Angers, Angers, France.
Interpreting postmortem concentrations of 3,4-Methylenedioxymethamphetamine (MDMA) remains challenging due to the wide range of reported results and the potential idiosyncratic nature of MDMA toxicity. Consequently, forensic pathologists often rely on a body of evidence to establish conclusions regarding the cause and the manner of death in death involving MDMA. Given these issues, implementing pharmacogenetics' (PGx)' testing may be beneficial.
View Article and Find Full Text PDFEur Burn J
November 2024
Department of Surgery, University of Washington, Seattle, WA 98195, USA.
In this study, we aimed to integrate a genetic repository with an existing longitudinal national burn database. We set out two primary objectives, namely (1) to develop standard operating procedures for genetic sample collection and storage, DNA isolation, and data integration into an existing multicenter database; and (2) to demonstrate the feasibility of correlating genetic variation to functional outcomes in a pilot study, using the catechol-O-methyltransferase (COMT) gene. Dubbed the worrier/warrior gene, COMT variants have been associated with varying phenotypes of post-traumatic stress, wellbeing, and resilience.
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