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Validating the accuracy of mathematical model-based pharmacogenomics dose prediction with real-world data.
Eur J Clin Pharmacol
January 2025
Electrical and Computer Engineering Department, School of Engineering, Lebanese American University, P.O. Box: 36, Byblos, F-19, Lebanon.
Objective: The study aims to verify the usage of mathematical modeling in predicting patients' medication doses in association with their genotypes versus real-world data.
Methods: The work relied on collecting, extracting, and using real-world data on dosing and patients' genotypes. Drug metabolizing enzymes, i.
Clinical Actionability of the NUDT15 *4 (p.R139H) Allele and Its Association With Hispanic Ethnicity.
Clin Pharmacol Ther
December 2024
Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Nudix hydrolase 15 (NUDT15) deficiency is strongly associated with thiopurine-induced myelosuppression. Currently, testing for NUDT15 deficiency is based on the genotyping of the most frequent and clinically characterized no-function variants, that is, *2, *3 and *9. The Hispanic/Latino-predominant variant NUDT15 *4 (p.
View Article and Find Full Text PDFA common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
J Exp Med
February 2025
St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).
View Article and Find Full Text PDFHLA-B5 prevalence in patients with spondyloarthritis and impact on disease phenotype: a multicentric case-control study.
Rheumatology (Oxford)
July 2024
Department of Medical Laboratories, Hôtel-Dieu de France, Beirut, Lebanon.
Objective: The study aimed to estimate the prevalence of HLA-B51 and HLA-B52 in Lebanese patients with spondyloarthritis (SpA) compared to healthy controls (HC). We further aimed to evaluate the impact of HLA-B51 on phenotype and identify the distribution of the alleles in the HLA-B locus.
Methods: A case-control study enrolled consecutive SpA patients from three rheumatology clinics in Lebanon, including axial (axSpA), peripheral SpA (pSpA), and psoriatic arthritis (PsA) and HC from blood donors.
Genetic variants related to insulin metabolism are associated with gestational diabetes mellitus.
Gene
November 2024
Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi 221005, Uttar Pradesh, India. Electronic address:
Article Synopsis
- The study examined the link between genetic risk variants and gestational diabetes mellitus (GDM) in a population of 300 pregnant women from North India.
- It focused on four specific genetic variants (SNPs): FTO, PPARG2, SLC30A8, and TCF7L2, using a case-control methodology and genotyping techniques.
- Findings showed that certain variations in these genes were significantly associated with GDM risk, revealing that the risk allele A of FTO doubled the likelihood of developing GDM, while some genotypes in PPARG2 indicated lower risk.
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