Browsing by Autor "Beatriz Luna"

Filter results by typing the first few letters
Now showing 1 - 5 of 5
  • Thumbnail Image
    Item type: Item ,
    Association Between Socioeconomic Status and Major Congenital Anomalies: A Two‐Sample Mendelian Randomization Study
    (Wiley, 2025) Daniel Linares; Qun Miao; Beatriz Luna
    We found limited evidence on the association between SES and congenital anomalies. Only higher educational attainment was significantly associated with reduced risk of CHDs after multiple testing correction. Further research with refined methods is needed to clarify these associations.
  • Thumbnail Image
    Item type: Item ,
    Global and local genetic correlation between congenital heart disease and neurodevelopmental disorders shared genetic architecture
    (2025) Daniel Linares; Beatriz Luna
    Abstract Individuals with congenital heart disease (CHD) have an increased risk of neurodevelopmental disorders (NDDs), a relationship likely driven by multiple interacting factors, including shared genetic influences, the underlying cardiac malformation, and risks associated with medical and surgical care. To investigate the genetic component of this association, we analyzed genome-wide association study (GWAS) summary statistics for CHD from the UK Biobank and FinnGen, focusing on two phenotypes present in both cohorts: congenital malformations of cardiac septa (Q21) and congenital malformations of great arteries (Q25). A fixed-effect meta-analysis was performed using METAL to increase statistical power. Neurodevelopmental phenotypes were represented by Austism Spectrum Disorder (ASD) and Attention-deficit/hyperactivity disorder (ADHD) GWAS results from the Psychiatric Genomics Consortium. Genome-wide genetic correlations were estimated using the High-Definition Likelihood. Local genetic correlations were assessed using LAVA. Multiple testing was controlled using Bonferroni correction. No significant genome-wide genetic correlations were observed between CHD phenotypes and either ASD or ADHD. However, LAVA identified a single significant local genetic correlation between cardiac septal defects and ASD on chromosome 6. Within this block, two loci near GMDS showed significant association with cardiac septal malformations. Bayesian colocalization did not reveal a variant with strong evidence for a shared causal signal, though three GMDS variants demonstrated moderate support for colocalization. These findings suggest that while global genetic overlap between CHD and NDDs is limited, specific loci, such as the GMDS region on chromosome 6, may contribute to shared developmental pathways underlying both phenotypes.
  • Thumbnail Image
    Item type: Item ,
    High altitude exposure and the birth prevalence of congenital anomalies in newborns with Down syndrome
    (Elsevier BV, 2025) Daniel Linares; Beatriz Luna; Edson Loayza; Angela del Callejo; Maria Garcia-Sejas; Carlos Eróstegui; Gonzalo Taboada
    Our findings indicate that both maternal and environmental factors, particularly high-altitude exposure, play a crucial role in the development of congenital anomalies in newborns with Down syndrome. These results underscore the need for enhanced surveillance and tailored clinical management in high-risk populations, as well as further research into preventive strategies to mitigate these risks.
  • Thumbnail Image
    Item type: Item ,
    Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis
    (Elsevier BV, 2023) Daniel Linares; Beatriz Luna; Edson Loayza; Gonzalo Taboada; Uma Ramaswami
  • Thumbnail Image
    Item type: Item ,
    Prevalence of Fabry Disease in Patients with Chronic Kidney Disease: A Systematic Review and Meta-analysis
    (2023) Daniel Linares; Beatriz Luna; Edson Loayza; Gonzalo Taboada; Uma Ramaswami
    vs. lesser than 1000), publication year (before vs. after 2010), presence of female gender