Expressive

rs10895277 - YAP1

Magnitude 2.2 · 3 studies on file

Reported associations

  • Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease - Unknown journal (n.d.) · Unknown authors · PubMed 35552371

    ABSTRACT: Abstract Approximately 30% of elderly adults are cognitively unimpaired at time of death despite the presence of Alzheimer's disease neuropathology at autopsy. Studying individuals who are resilient to the cognitive consequences of Alzheimer's disease neuropathology may uncover novel therapeutic targets to treat Alzheimer's disease. It is well established that there are sex differences in response to Alzheimer's disease pathology, and growing evidence suggests that genetic factors may contribute to these differences. Taken together, we sought to elucidate sex-specific genetic drivers of resilience. We extended our recent large scale genomic analysis of resilience in which we harmonized cognitive data across four cohorts of cognitive ageing, in vivo amyloid PET across two

  • Using human genetics to understand the disease impacts of testosterone in men and women - Unknown journal (n.d.) · Unknown authors · PubMed 32042192

    ABSTRACT: Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown. To better understand this, we identified genetic determinants of testosterone levels and related sex hormone traits in 425,097 UK Biobank study participants. Using 2,571 genome-wide significant associations, we demonstrate the genetic determinants of testosterone levels are substantially different between sexes, and that genetically higher testosterone is harmful for metabolic diseases in women but beneficial in men. For example, a genetically determined 1-standard deviation higher testosterone increases the risks of Type 2 diabetes (T2D) (OR=1.37 [1.22-1.53]) and polycystic ovary syndrome (OR=1.51 [1.33-1.72]) in

  • Genetic analyses implicate complex links between adult testosterone levels and health and disease - Unknown journal (n.d.) · Unknown authors · PubMed 36653534

    ABSTRACT: Background Testosterone levels are linked with diverse characteristics of human health, yet, whether these associations reflect correlation or causation remains debated. Here, we provide a broad perspective on the role of genetically determined testosterone on complex diseases in both sexes. Methods Leveraging genetic and health registry data from the UK Biobank and FinnGen (total N = 625,650), we constructed polygenic scores (PGS) for total testosterone, sex-hormone binding globulin (SHBG) and free testosterone, associating these with 36 endpoints across different disease categories in the FinnGen. These analyses were combined with Mendelian Randomization (MR) and cross-sex PGS analyses to address causality. Results We show testosterone and SHBG levels are intricately tied t

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