title: Genome-wide linkage scan for bladder exstrophy-epispadias complex.
abstract: BACKGROUND
  The bladder exstrophy-epispadias complex represents a spectrum of urogenital anomalies in which part or all of the distal urinary tract fail to close and are exposed on the outer abdominal wall. Previous studies are suggestive of an underlying multifactorial mode of inheritance. However, no genetic or nongenetic factor has been identified so far. In this study, we sought risk loci by parametric and nonparametric linkage analysis, searching for homozygous segments, and more complex inherited loci, respectively.
  
  
  METHODS
  Two pedigrees, Spanish and German, each comprising two members affected with classical bladder exstrophy, were analyzed by genome-wide linkage scan.
  
  
  RESULTS
  Evidence for possible risk/modifying loci on chromosomes 2p22.1-p21, 2p25.2-p25.1, 4q23-q32.3, 7q21.3-q33, 7q34-q36.1, 14q31.1-q32.2, and 19q13.33-q13.43 (LOD scores >1.50) was obtained.
  
  
  CONCLUSIONS
  This study was the first positional approach to identify chromosomal candidate regions causally related to bladder exstrophy-epispadias complex. Our results suggest the presence of susceptibility genes in the regions identified. These regions need to be confirmed in future studies.
authors.affiliation: Department of Clinical Biochemistry and Pharmacology, University of Bonn, Sigmund-Freud-Strasse 25, Bonn. mludwig@uni-bonn.de
authors.forename: Michael
authors.initials: M
authors.lastname: Ludwig
authors.forename: Franz
authors.initials: F
authors.lastname: Rüschendorf
authors.forename: Kathrin
authors.initials: K
authors.lastname: Saar
authors.forename: Norbert
authors.initials: N
authors.lastname: Hübner
authors.forename: Lothar
authors.initials: L
authors.lastname: Siekmann
authors.forename: Simeon A
authors.initials: SA
authors.lastname: Boyadjiev
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001746:Bladder Exstrophy / Q000150:complications / Q000235:genetics*; D002874:Chromosome Mapping; D004842:Epispadias / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide