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Pharmacogenet Genomics
January 2025
Department of Pharmacology & Toxicology and Brown Cancer Center, University of Louisville School of Medicine, Louisville, Kentucky, USA.
Objective: Heterocyclic amines (HCAs) are mutagens and carcinogens primarily generated when cooking meat at high temperatures or until well-done, and their major metabolic pathway includes hepatic N-hydroxylation via CYP1A2 followed by O-acetylation via N-acetyltransferase 2 (NAT2). NAT2 expresses a well-defined genetic polymorphism in humans resulting in rapid and slow acetylators. Recent epidemiological studies reported significant associations between dietary HCA exposure and insulin resistance and type II diabetes.
View Article and Find Full Text PDFBreast J
January 2025
Department of Thyroid and Breast Surgery, Affiliated Hospital of Nantong University, Medical School of Nantong University, Nantong 226001, China.
This study aims to investigate the potential causal link between mitochondrial function and breast cancer using the Mendelian randomization (MR) analysis. The data used for this study were obtained from genomewide association studies (GWAS) databases on mitochondrial biological function and breast cancer. Mitochondrial function was considered the exposure variable, breast cancer the outcome variable, and specific single nucleotide polymorphisms (SNPs) were selected as instrumental variables (IVs).
View Article and Find Full Text PDFHereditas
December 2024
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, No. 1, Dongjiaomin Lane, Dongcheng District, Beijing, 100730, China.
Background: Age-related macular degeneration (AMD) is the leading cause of visual impairment in the elderly population. Accumulating evidence has revealed the possible association between metabolites and AMD. This study aimed to assess the effect of plasma metabolites on AMD and its two subtypes using a bidirectional two-sample Mendelian randomization approach.
View Article and Find Full Text PDFJ Genet Genomics
December 2024
Hainan Key Laboratory of Tropical Oil Crops Biology/Coconut Research Institute, Chinese Academy of Tropical Agricultural Sciences, Wenchang, Hainan 571339, China; Hainan Coconut International Joint Research Center, Wenchang, Hainan 571339, China. Electronic address:
Coconut (Cocos nucifera L.) is a key tropical economic tree valued for its fruit flavor, particularly 2-acetyl-1-pyrroline (2AP), a vital aroma metabolite. To enhance high-aromatic coconut breeding efforts, it is essential to deeply understand the hereditary factors governing the production of 2AP.
View Article and Find Full Text PDFBioorg Chem
December 2024
Bioinformatics Research Laboratory, LeGene Biosciences Pvt Ltd, 91-A, Sector A, Mahalakshmi Nagar, Indore 452010, Madhya Pradesh, India; In silico Research Laboratory, Eminent Biosciences, 91-A, Sector A, Mahalakshmi Nagar, Indore 452010, Madhya Pradesh, India. Electronic address:
Inhaled β2 agonists form the first-line treatment for bronchial asthma due to their superior bronchodilator effects. In our previous studies, we have identified a significant association of Thr164Ile (T164I) polymorphism (C491T, rs1800088) in the β2 adrenergic receptor (β2AR) with refractoriness to β2 agonists like salbutamol. Utilizing molecular modeling approaches, we have demonstrated the suboptimal binding of salbutamol as a plausible rationale behind the refractoriness observed in asthmatics.
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