title: Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis.
abstract: BACKGROUND
  Human ß-defensins are a family of antimicrobial peptides located at the mucosal surface. Both sequence multi-site variations (MSV) and copy-number variants (CNV) of the defensin-encoding genes are associated with increased risk for various diseases, including cancer and inflammatory conditions such as psoriasis and acute pancreatitis. In a case-control study, we investigated the association between MSV in DEFB104 as well as defensin gene (DEF) cluster copy number (CN), and pancreatic ductal adenocarcinoma (PDAC) and chronic pancreatitis (CP).
  
  
  RESULTS
  Two groups of PDAC (N=70) and CP (N=60) patients were compared to matched healthy control groups CARLA1 (N=232) and CARLA2 (N=160), respectively. Four DEFB104 MSV were haplotyped by PCR, cloning and sequencing. DEF cluster CN was determined by multiplex ligation-dependent probe amplification.Neither the PDAC nor the CP cohorts show significant differences in the DEFB104 haplotype distribution compared to the respective control groups CARLA1 and CARLA2, respectively.The diploid DEF cluster CN exhibit a significantly different distribution between PDAC and CARLA1 (Fisher's exact test P=0.027), but not between CP and CARLA2 (P=0.867).
  
  
  CONCLUSIONS
  Different DEF cluster b CN distribution between PDAC patients and healthy controls indicate a potential protective effect of higher CNs against the disease.
authors.affiliation: Genome Analysis, Leibniz Institute for Age Research - Fritz Lipmann Institute, Beutenbergstr 11, D-07745, Jena, Germany. stau@fli-leibniz.de
authors.forename: Stefan
authors.initials: S
authors.lastname: Taudien
authors.forename: Gabor
authors.initials: G
authors.lastname: Gäbel
authors.forename: Oliver
authors.initials: O
authors.lastname: Kuss
authors.forename: Marco
authors.initials: M
authors.lastname: Groth
authors.forename: Robert
authors.initials: R
authors.lastname: Grützmann
authors.forename: Klaus
authors.initials: K
authors.lastname: Huse
authors.forename: Alexander
authors.initials: A
authors.lastname: Kluttig
authors.forename: Andreas
authors.initials: A
authors.lastname: Wolf
authors.forename: Michael
authors.initials: M
authors.lastname: Nothnagel
authors.forename: Philip
authors.initials: P
authors.lastname: Rosenstiel
authors.forename: Karin Halina
authors.initials: KH
authors.lastname: Greiser
authors.forename: Karl
authors.initials: K
authors.lastname: Werdan
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
authors.forename: Christian
authors.initials: C
authors.lastname: Pilarsky
authors.forename: Matthias
authors.initials: M
authors.lastname: Platzer
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D021441:Carcinoma, Pancreatic Ductal / Q000235:genetics*; D016022:Case-Control Studies; D002898:Chromosomes, Human, Pair 8; D015331:Cohort Studies; D056915:DNA Copy Number Variations; D006801:Humans; D050500:Pancreatitis, Chronic / Q000235:genetics*; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D023083:beta-Defensins