Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Bustos, Bernabe, I, Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shoenfels, Witigo, Schafmayer, Clemens, Ahnert, Peter ORCID: 0000-0002-1771-0856, Voelzke, Henry, Voelker, Uwe, Homuth, Georg, Lerch, Markus M. ORCID: 0000-0002-9643-8263, Puschel, Klaus, Gutierrez, Rodrigo A., Hampe, Jochen ORCID: 0000-0002-2421-6127, Nuernberg, Peter, Miquel, Juan Francisco and De Ferrari, Giancarlo, V (2020). Copy number variants in lipid metabolism genes are associated with gallstones disease in men. Eur. J. Hum. Genet., 28 (2). S. 264 - 274. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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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 < 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 x 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Perez-Palma, EduardoUNSPECIFIEDorcid.org/0000-0003-0546-5141UNSPECIFIED
Bustos, Bernabe, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buch, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Azocar, LorenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toliat, Mohammad RezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lieb, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franke, AndreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hinz, SebastianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burmeister, GretaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Shoenfels, WitigoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schafmayer, ClemensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahnert, PeterUNSPECIFIEDorcid.org/0000-0002-1771-0856UNSPECIFIED
Voelzke, HenryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voelker, UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Homuth, GeorgUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lerch, Markus M.UNSPECIFIEDorcid.org/0000-0002-9643-8263UNSPECIFIED
Puschel, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gutierrez, Rodrigo A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hampe, JochenUNSPECIFIEDorcid.org/0000-0002-2421-6127UNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miquel, Juan FranciscoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Ferrari, Giancarlo, VUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-347713
DOI: 10.1038/s41431-019-0501-7
Journal or Publication Title: Eur. J. Hum. Genet.
Volume: 28
Number: 2
Page Range: S. 264 - 274
Date: 2020
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1476-5438
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUSCEPTIBILITY LOCI; GENOME; GENETICS; MAPMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/34771

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