Expressive

rs113070129 - GATAD2A

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning - Unknown journal (n.d.) · Unknown authors · PubMed 34128465

    ABSTRACT: Cardiometabolic diseases are an increasing global health burden. While socioeconomic, environmental, behavioural, and genetic risk factors have been identified, a better understanding of the underlying mechanisms is required to develop more effective interventions. Magnetic resonance imaging (MRI) has been used to assess organ health, but biobank-scale studies are still in their infancy. Using over 38,000 abdominal MRI scans in the UK Biobank, we used deep learning to quantify volume, fat, and iron in seven organs and tissues, and demonstrate that imaging-derived phenotypes reflect health status. We show that these traits have a substantial heritable component (8-44%) and identify 93 independent genome-wide significant associations, including four associations with liver traits

  • 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

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • sex hormone-binding globulin levels Moderate

    Rs113070129 is strongly associated with SHBG levels (p=8e-15), which influence free hormone bioavailability and metabolic phenotypes.

    Establish baseline SHBG; repeat monitoring if hormonal symptoms or metabolic concerns arise

Lifestyle

  • aerobic and resistance exercise program Moderate

    Physical activity reduces hepatic steatosis and improves insulin sensitivity, potentially mitigating rs113070129 association with elevated liver fat.

    150 min moderate-intensity aerobic activity weekly plus 2 sessions resistance training per week

Screening

  • liver fat content via imaging or biomarkers Moderate

    Rs113070129 is associated with increased percent liver fat; monitoring enables early detection of hepatic steatosis progression.

    Annual ALT and AST; abdominal ultrasound or MRI-PDFF if abnormal