rs11815438 - ANK3-DT - CDK1

Magnitude 2.0 · 2 studies on file

Reported associations

• Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis - Nature genetics (2024) · Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H, Verweij N, Lotta L, Baras A, Mirshahi T, Carey DJ, Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S · PubMed 38632349

  ABSTRACT: We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism. One of these, PNPLA3 p.Ile148Met, interacts with alcohol intake, obesity and diabetes on the risk of cirrhosis and hepatocellular carcinoma (HCC). We develop a polygenic risk score that associates with the progression from cirrhosis to HCC. By focusing on prioritized genes from c

• Incorporating spatial-anatomical similarity into the VGWAS framework for AD biomarker detection. - Bioinformatics (Oxford, England) (2020) · Huang M, Yu Y, Yang W, Feng Q · PubMed 31095298

  The detection of potential biomarkers of Alzheimer's disease (AD) is crucial for its early prediction, diagnosis and treatment. Voxel-wise genome-wide association study (VGWAS) is a commonly used method in imaging genomics and usually applied to detect AD biomarkers in imaging and genetic data. However, existing VGWAS methods entail large computational cost and disregard spatial correlations within imaging data. A novel method is proposed to solve these issues. We introduce a novel method to incorporate spatial correlations into a VGWAS framework for the detection of potential AD biomarkers. To consider the characteristics of AD, we first present a modification of a simple linear iterative clustering method for spatial grouping in an anatomically meaningful manner. Second, we propose a spa

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