rs12449792 - FMNL1

Magnitude 2.2 · 2 studies on file

Reported associations

• Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation - Unknown journal (n.d.) · Unknown authors · PubMed 30367059

  ABSTRACT: Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clin

• A genome‐wide association meta‐analysis of all‐cause and vascular dementia - Unknown journal (n.d.) · Unknown authors · PubMed 39046104

  ABSTRACT: Abstract INTRODUCTION Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome‐wide association studies (GWAS) focus on AD. METHODS We conducted a GWAS of all‐cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors. RESULTS For ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonanc

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