title: Genome-wide linkage analysis for hypospadias susceptibility genes.
abstract: OBJECTIVE
  Hypospadias, when the urethra opens on the underside of the penis, is a common malformation that occurs in about 1/300 boys. The etiology of hypospadias is unknown but several lines of evidence indicate that it is caused by the combined influence of genetic and environmental factors. To identify chromosomal loci involved in the pathogenesis of hypospadias we performed genome-wide linkage analysis.
  
  
  METHODS
  A total of 69 families with at least 2 members with hypospadias were genotyped with 360 microsatellite markers and analyzed with a nonparametric affected relative pair method. Of them 58 were of Swedish origin and 11 were from the Middle East.
  
  
  RESULTS
  Suggestive linkage was found at the 4 chromosome regions 9q22 (in all families), 2p11, 10p15 and 10q21 (in Swedish families).
  
  
  CONCLUSIONS
  These results provide a basis for outlining the genetic background of hypospadias.
authors.affiliation: Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Louise
authors.initials: L
authors.lastname: Frisén
authors.forename: Cilla
authors.initials: C
authors.lastname: Söderhäll
authors.forename: Margareta
authors.initials: M
authors.lastname: Tapper-Persson
authors.forename: Holger
authors.initials: H
authors.lastname: Luthman
authors.forename: Ingrid
authors.initials: I
authors.lastname: Kockum
authors.forename: Agneta
authors.initials: A
authors.lastname: Nordenskjöld
mesh_terms: D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D003198:Computer Simulation; D005006:Ethnicity / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008877:Middle East / Q000208:ethnology; D008957:Models, Genetic; D018709:Statistics, Nonparametric; D013548:Sweden
chemical_list: D005819:Genetic Markers