Expressive

rs111821658 - ULK4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Multi-trait and multi-ancestry genetic analysis of comorbid lung diseases and traits improves genetic discovery and polygenic risk prediction. - Nature genetics (2026) · He Y, Lu W, Jee YH, Shih MY, Wang Y, Tsuo K, Qian DC, Diao JA, Huang H, Patel CJ, Byun J, Pasaniuc B, Atkinson EG, Amos CI, Feng YA, Moll M, Cho MH, Martin AR · PubMed 41565855

    While respiratory diseases such as chronic obstructive pulmonary disease (COPD) and asthma share many risk factors, most studies investigate them in isolation and in predominantly European-ancestry populations. Here, we conducted the most powerful multi-trait and multi-ancestry genetic analysis of respiratory diseases and auxiliary traits to date, identifying 25 new loci associated with lung function in individuals of East Asian ancestry. Using these results, we developed PRSxtra (cross-trait and cross-ancestry), a multi-trait and multi-ancestry polygenic risk score (PRS) approach that leverages shared components of heritable risk via pleiotropic effects. PRSxtra significantly improved the prediction of asthma, COPD and lung cancer compared to trait- and ancestry-matched PRSs in a multi-an

  • High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease. - Nature genetics (2022) · Tcheandjieu C, Xiao K, Tejeda H, Lynch JA, Ruotsalainen S, Bellomo T, Palnati M, Judy R, Klarin D, Kember RL, Verma S, Palotie A, Daly M, Ritchie M, Rader DJ, Rivas MA, Assimes T, Tsao P, Damrauer S, Priest JR · PubMed 35637384

    Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a leading cause of morbidity in the developed world. Here we performed automated extraction of ascending aortic diameter from cardiac magnetic resonance images of 36,021 individuals from the UK Biobank, followed by genome-wide association. We identified lead variants across 41 loci, including genes related to cardiovascular development (HAND2, TBX20) and Mendelian forms of thoracic aortic disease (ELN, FBN1). A polygenic score significantly predicted prevalent risk of thoracic aortic aneurysm and the need for surgical intervention for patients with thoracic aneurysm across multiple ancestries within the UK Biobank, FinnGen, the Penn Medicine Biobank and the Million Veterans Program (MVP). Additionally,

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