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


ABSTRACT: 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?

SUBMITTER: Perez-Palma E 

PROVIDER: S-EPMC6974590 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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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) wi  ...[more]

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