We tested the hypothesis that there is a connection between apolipoprotein E (APOE) genotype and age at menopause. A sample of women aged between 50 and 60 years who had reached natural menopause was studied. Survival analysis of data showed a significant relationship between APOE genotype and age at menopause, carriers of the APOE4 allele reaching menopause at an earlier age. Our findings can have a bearing on the question of the evolution of this major human polymorphism and human life history. These findings are also relevant to the question of the connection between reproductive parameters and age-associated diseases.
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http://dx.doi.org/10.1196/annals.1297.105 | DOI Listing |
Biol Psychiatry Glob Open Sci
March 2025
Department of Psychology, Arizona State University, Tempe, Arizona.
Background: Hippocampal volume increases throughout early development and is an important indicator of cognitive abilities and mental health. However, hippocampal development is highly vulnerable to exposures during development, as seen by smaller hippocampal volume and differential epigenetic programming in genes implicated in mental health. However, few studies have investigated hippocampal volume in relation to the peripheral epigenome across development, and even less is known about potential genetic moderators.
View Article and Find Full Text PDFWe report a systematic quantification of 10,841 unique proteins from over 700 GTEx samples, representing five human tissues. Sex, age and genetic factors are associated with variation in protein abundance. In total, 1981 cis-protein quantitative trait loci (cis-pQTL) are identified, of which a majority of protein targets have not been assayed in the recent plasma-based proteogenomic studies.
View Article and Find Full Text PDFBackground: Clonal hematopoiesis of indeterminate potential (CHIP) is the age-related presence of expanded somatic clones secondary to leukemogenic driver mutations and is associated with cardiovascular (CV) disease and mortality. We sought to evaluate relationships between CHIP with cardiometabolic diseases and incident outcomes in high-risk individuals.
Methods: CHIP genotyping was performed in 8469 individuals referred for cardiac catheterization at Duke University (CATHGEN study) to identify variants present at a variant allele fraction (VAF) ≥2%.
Heliyon
January 2025
Paediatric Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
Background: Cystic fibrosis is a heterogeneous disease whose severity and symptoms largely depend on the functional impact of mutations in the cystic fibrosis transmembrane conductance regulator gene. Other genes may also modulate the clinical manifestations and complications associated with cystic fibrosis. Genetic variants of the bitter taste receptor TAS2R38 have been shown to contribute to the susceptibility and severity of chronic rhinosinusitis.
View Article and Find Full Text PDFChina CDC Wkly
January 2025
State Key Laboratory of Infectious Disease Prevention and Control, National Center for AIDS/STD Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
Introduction: The widespread adoption of integrase strand transfer inhibitors (INSTIs) has led to the emergence of INSTI-associated drug-resistance mutations. This cross-sectional study conducted a comprehensive national survey to investigate the prevalence of pretreatment drug resistance (PDR) to INSTIs among newly diagnosed human immunodeficiency virus (HIV) individuals in China.
Methods: The study enrolled 10,654 individuals from 31 provincial-level administrative divisions between 2018 and 2023.
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