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

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dc.contributor.authorPérez-Palma, Eduardo
dc.contributor.authorBustos, Bernabé I.
dc.contributor.authorLa, Dennis
dc.contributor.authorBuch, Stephan
dc.contributor.authorAzocar, Lorena
dc.contributor.authorReza Toliat, Mohammad
dc.contributor.authorLieb, Wolfgang
dc.contributor.authorFranke, Andre
dc.contributor.authorHinz, Sebastian
dc.contributor.authorBurmeister, Greta
dc.contributor.authorvon Shönfels, Witigo
dc.contributor.authorSchafmayer, Clemens
dc.contributor.authorAhnert, Peter
dc.contributor.authorVölzke, Henry
dc.contributor.authorVölker, Uwe
dc.contributor.authorHomuth, Georg
dc.contributor.authorLerch, Markus M.
dc.contributor.authorPuschel, Klaus
dc.contributor.authorGutiérrez, Rodrigo A
dc.contributor.authorHampe, Jochen
dc.contributor.authorNürnberg, Peter
dc.contributor.authorMiquel, Juan Francisco
dc.contributor.authorDe Ferrar, Giancarlo V.
dc.date.accessioned2021-11-23T16:29:20Z
dc.date.available2021-11-23T16:29:20Z
dc.date.issued2020-02
dc.description.abstractGallstones 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 < 1%). Case-control burden analysis and generalized linear regression models revealed significant association of CNVs with GSD in men, with the strongest effect observed with CNVs overlapping lipid metabolism genes (p-value = 6.54 × 10–4; OR = 2.76; CI 95% = 1.53–4.89). Our results indicate a clear link between CNVs and GSD in men and provides additional evidence that the genetic components of risk for GSD are complex, can be sex specific and include CNVs affecting genes involved in lipid metabolism. © 2019, The Author(s).es
dc.description.sponsorshipIndexación: Scopuses
dc.identifier.citationEuropean Journal of Human Genetics Open AccessVolume 28, Issue 2, Pages 264 - 2731 February 2020es
dc.identifier.issn10184813
dc.identifier.urihttp://repositorio.unab.cl/xmlui/handle/ria/21030
dc.language.isoenes
dc.publisherSpringer Naturees
dc.titleCopy number variants in lipid metabolism genes are associated with gallstones disease in menes
dc.typeArtículoes
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