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Genome-wide association studies (GWAS) have identified genetic variants robustly associated with asthma. A potential near-term clinical application is to calculate polygenic risk score (PRS) to improve disease risk prediction. The value of PRS, as part of numerous multi-source variables used to define asthma, remains unclear.
View Article and Find Full Text PDFThe association between type 2 diabetes and asthma incidence: a longitudinal analysis considering genetic susceptibility.
BMC Public Health
January 2025
Department of Endocrinology, China-Japan Friendship Hospital, No.2 Yinghuayuan East Street, Hepingli, Chaoyang District, 100029, Beijing, China.
Background: The prevalence of type 2 diabetes (T2D) and asthma is rising, yet evidence regarding the relationship between T2D and asthma, particularly in the context of genetic predispositions, remains limited.
Methods: This study utilized data from the UK Biobank longitudinal cohort, involving 388,775 participants. A polygenic risk score (PRS) for asthma was derived from genome-wide association studies summary.
TOM40 as a prognostic oncogene for oral squamous cell carcinoma prognosis.
BMC Cancer
January 2025
Department of Otorhinolaryngology, Shenzhen Key Laboratory of Otorhinolaryngology, Longgang Otorhinolaryngology Hospital, Shenzhen Institute of Otorhinolaryngology, No. 3004 Longgang Avenue, Shenzhen, Guangdong, China.
Background: To investigate the role of the translocase of the outer mitochondrial membrane 40 (TOM40) in oral squamous cell carcinoma (OSCC) with the aim of identifying new biomarkers or potential therapeutic targets.
Methods: TOM40 expression level in OSCC was evaluated using datasets downloaded from The Cancer Genome Atlas (TCGA), as well as clinical data. The correlation between TOM40 expression level and the clinicopathological parameters and survival were analyzed in TCGA.
Phylogeography and genetic diversity of Ulmus elongata (Ulmaceae), a Tertiary relict tree with extremely small populations (PSESP).
BMC Plant Biol
January 2025
College of Life Science, Henan Agricultural University, Zhengzhou, China.
Background: Assessing the current status and identifying the mechanisms threatening endangered plants are significant challenges and fundamental to biodiversity conservation, particularly for protecting Tertiary relict trees and plant species with extremely small populations (PSESP). Ulmus elongata (Ulmus, Ulmaceae) with high values for the ornamental application, is a Tertiary relict tree species and one of the members from PSESP in China. Currently, the wild populations of U.
View Article and Find Full Text PDFGestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders.
Eur J Hum Genet
January 2025
Institute for Genomic Statistics and Bioinformatics, Bonn, NRW, Germany.
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. Therefore, publishing images of individuals affected by pathogenic variants in disease-associated genes has been an important part of scientific communication. Furthermore, medical imaging data is also crucial for teaching and training deep-learning models such as GestaltMatcher.
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