title: Endometriosis is not associated with or linked to the GALT gene.
abstract: OBJECTIVE
  To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides.
  
  
  METHODS
  Association and linkage study.
  
  
  METHODS
  Population material collected for case and family studies in endometriosis.
  
  
  METHODS
  Women diagnosed with endometriosis by laparotomy or laparoscopy.
  
  
  METHODS
  Association with the GALT gene investigated by genotyping 85 affected women and 213 unrelated control women and a scan for linkage to chromosome 9 in 205 women from 64 families with endometriosis.
  
  
  METHODS
  Multipoint parametric lod scores and frequency of alleles.
  
  
  RESULTS
  There was no significant difference in allele frequency for the N314D polymorphism in patients compared with control subjects. No evidence for linkage was found to chromosome 9p, where the GALT gene resides.
  
  
  CONCLUSIONS
  The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.
authors.affiliation: deCODE Genetics, Lynghals 1, 110 Reykjavik, Iceland. hreinn@decode.is
authors.forename: H
authors.initials: H
authors.lastname: Stefansson
authors.forename: A
authors.initials: A
authors.lastname: Einarsdottir
authors.forename: R T
authors.initials: RT
authors.lastname: Geirsson
authors.forename: K
authors.initials: K
authors.lastname: Jonsdottir
authors.forename: G
authors.initials: G
authors.lastname: Sverrisdottir
authors.forename: V G
authors.initials: VG
authors.lastname: Gudnadottir
authors.forename: S
authors.initials: S
authors.lastname: Gunnarsdottir
authors.forename: A
authors.initials: A
authors.lastname: Manolescu
authors.forename: J
authors.initials: J
authors.lastname: Gulcher
authors.forename: K
authors.initials: K
authors.lastname: Stefansson
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic; D012016:Reference Values; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D005694:UTP-Hexose-1-Phosphate Uridylyltransferase