Copy number variants in lipid metabolism genes are associated with gallstones disease in men

Gallstones Disease (GSD) is one of the most common digestive diseases requiring hospitalization and surgical procedures in the world. GSD has a high prevalence in populations with European or Amerindian ancestry (10-20%) and the influence of genetic factors is broadly acknowledged. However, known ge...

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Published in:European journal of human genetics : EJHG 2020-02, Vol.28 (2), p.264-273
Main Authors: Pérez-Palma, Eduardo, Bustos, Bernabé I, Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shönfels, Witigo, Schafmayer, Clemens, Ahnert, Peter, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M, Puschel, Klaus, Gutiérrez, Rodrigo A, Hampe, Jochen, Nürnberg, Peter, Miquel, Juan Francisco, De Ferrari, Giancarlo V
Format: Article
Language:English
Subjects:
Adult
Aged
Calculi
Copy number
Digestive system diseases
Disease
DNA Copy Number Variations
Female
Gallstones
Gallstones - genetics
Genetic diversity
Genetic factors
Heritability
Humans
Lipid Metabolism
Lipids
Male
Metabolism
Middle Aged
Regression analysis
Sex Factors
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Summary:Gallstones Disease (GSD) is one of the most common digestive diseases requiring hospitalization and surgical procedures in the world. GSD has a high prevalence in populations with European or Amerindian ancestry (10-20%) and the influence of genetic factors is broadly acknowledged. However, known genetic variants do not entirely explain the disease heritability suggesting that additional genetic variants remain to be identified. Here, we examined the association of copy number variants (CNVs) with GSD in a sample of 4778 individuals (1929 GSD cases and 2849 controls) including two European cohorts from Germany (n = 3702) and one admixed Latin American cohort from Chile (n = 1076). We detected 2936 large and rare CNVs events (size > 100 kb, frequency 
ISSN:1018-4813
1476-5438
DOI:10.1038/s41431-019-0501-7