Functional characterization of the SDR42E1 reveals its role in vitamin D biosynthesis DOI Creative Commons
Nagham Nafiz Hendi, Maria T. Bengoechea-Alonso, Johan Ericsson

et al.

Heliyon, Journal Year: 2024, Volume and Issue: 10(17), P. e36466 - e36466

Published: Aug. 17, 2024

Vitamin D deficiency poses a widespread health challenge, shaped by environmental and genetic determinants. A recent discovery identified regulator, rs11542462, in the

Language: Английский

Causal Effects of 25-Hydroxyvitamin D on Metabolic Syndrome and Metabolic Risk Traits: A Bidirectional Two-Sample Mendelian Randomization Study DOI Creative Commons
Young Lee, Je Hyun Seo, Junyong Lee

et al.

Biomedicines, Journal Year: 2025, Volume and Issue: 13(3), P. 723 - 723

Published: March 15, 2025

Background/Objectives: Individuals with metabolic syndrome (MetS) present reduced 25(OH)D levels. We performed a two-sample Mendelian randomization (MR) study to investigate whether causal relationships exist between levels and MetS/MetS risk traits, including waist circumference, body mass index (BMI), hypertension (systolic/diastolic blood pressure), triglyceride, high-density lipoprotein cholesterol, glucose Methods: employed genetic variants related from the SUNLIGHT Consortium European genome-wide association meta-analysis, UK Biobank (UKB) data, as well for MetS traits UKB multiple consortia. Several MR methods were used, i.e., inverse-variance weighted, weighted median, MR–Egger regression. Heterogeneity horizontal pleiotropy analyses ensure stability of candidate single-nucleotide polymorphisms (SNPs) instrumental variable. first conducted univariable relationship MetS, its subsequently multivariable adjust potential confounders. Results: This did not provide evidence traits. However, we found that several such BMI, TG, had an inverse–causal levels, suggesting could be secondary consequences illnesses. Conclusions: identified no factors. may result

Language: Английский

Citations

0

Integrating pharmacogenomics in three Middle Eastern countries’ healthcare (Lebanon, Qatar, and Saudi Arabia): Current insights, challenges, and strategic directions DOI Creative Commons
Saïd El Shamieh, Rida Saleem, Dalal Hammoudi Halat

et al.

PLoS ONE, Journal Year: 2025, Volume and Issue: 20(4), P. e0319042 - e0319042

Published: April 11, 2025

Background and objectives Pharmacogenomics (PGx) leverages genomic information to tailor drug therapies, enhancing precision medicine. Despite global advancements, its implementation in Lebanon, Qatar, Saudi Arabia faces unique challenges clinical integration. This study aimed investigate PGx attitudes, knowledge implementation, associated challenges, forecast future educational needs, compare findings across the three countries. Methods cross-sectional utilized an anonymous, self-administered online survey distributed healthcare professionals, academics, clinicians Arabia. The comprised 18 questions assess participants’ familiarity with PGx, current practices, perceived obstacles, potential integration strategies, needs. Results yielded 337 responses from professionals Data revealed significant variations involvement. Qatar participants were more familiar compared Lebanon (83%, 75%, 67%, respectively). Participation PGx-related talks was most prevalent (96%), followed by (53%) (35%). Key identified included test cost reimbursement, insufficient physician knowledge, lack of infrastructure. reported highest concern for costs (16%), lowest (5%). these a strong consensus emerged on PGx’s improve patient outcomes, over 86% respondents all countries expressing this belief. Educational interest areas varied country, cancer chemotherapy diabetes mellitus Qatar. Conclusion highlights influence backgrounds infrastructural limitations emphasize need targeted strategies each country address distinct barriers. Integrating education into training programs workflows could unlock optimize care.

Language: Английский

Citations

0

Functional characterization of the SDR42E1 reveals its role in vitamin D biosynthesis DOI Creative Commons
Nagham Nafiz Hendi, Maria T. Bengoechea-Alonso, Johan Ericsson

et al.

Heliyon, Journal Year: 2024, Volume and Issue: 10(17), P. e36466 - e36466

Published: Aug. 17, 2024

Vitamin D deficiency poses a widespread health challenge, shaped by environmental and genetic determinants. A recent discovery identified regulator, rs11542462, in the

Language: Английский

Citations

1