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

Eduardo Pérez-Palma, Bernabé I. Bustos, Dennis Lal, Stephan Buch, Lorena Azocar, Mohammad Reza Toliat, Wolfgang Lieb, Andre Franke, Sebastian Hinz, Greta Burmeister, Witigo von Shönfels, Clemens Schafmayer, Peter Ahnert, Henry Völzke, Uwe Völker, Georg Homuth, Markus M. Lerch, Klaus Puschel, Rodrigo A. Gutiérrez, Jochen HampePeter Nürnberg, Juan Francisco Miquel, Giancarlo V. De Ferrari

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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 < 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.

Original languageEnglish
Pages (from-to)264-273
Number of pages10
JournalEuropean Journal of Human Genetics
Issue number2
Publication statusAccepted/In press - 1 Jan 2019

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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