title: Examination of ELN as a candidate gene in the Utah intracranial aneurysm pedigrees.
abstract: OBJECTIVE
  A study of intracranial aneurysm (IA) sibpairs suggested association of an ELN haplotype with IA risk. Subsequent linkage analysis of the ELN region on chromosome 7q11 in high-risk Utah IA pedigrees significantly confirmed linkage between IA and the ELN region.
  
  
  METHODS
  We have investigated the ELN gene as a potential candidate gene for IA in Utah pedigrees. One IA case from each pedigree, who shared an ELN region haplotype segregating in the pedigree, was screened for mutation. The promoter region, 34 exons, and the 3'UTR (UnTranslated Region) of the ELN gene were screened for variants using DHPLC.
  
  
  RESULTS
  Variants were observed in the promoter region, exons 4 and 6, and the 3'UTR. Variants in exon 6 and in one 3'UTR position were unique to Utah. The remaining variants were absent in the controls. There was no evidence for segregation of the ELN variants found in IA cases with the hypothesized chromosome 7 haplotypes segregating in pedigrees.
  
  
  CONCLUSIONS
  Our analysis does not support ELN as the gene responsible for familial IA in the linked Utah IA pedigrees.
authors.affiliation: Department of Medical Informatics, Ogden, Utah, USA.
authors.forename: Nicole
authors.initials: N
authors.lastname: Berthelemy-Okazaki
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhao
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.forename: Nicola J
authors.initials: NJ
authors.lastname: Camp
authors.forename: Jim
authors.initials: J
authors.lastname: Farnham
authors.forename: Dennis
authors.initials: D
authors.lastname: Parker
authors.forename: Jay
authors.initials: J
authors.lastname: Tsuruda
authors.forename: Joel
authors.initials: J
authors.lastname: Macdonald
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Cannon-Albright
mesh_terms: D020413:3' Untranslated Regions; D000783:Aneurysm / Q000235:genetics; D004549:Elastin / Q000235:genetics* / Q000502:physiology*; D005091:Exons; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics*; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012306:Risk; D017422:Sequence Analysis, DNA; D014589:Utah
chemical_list: D020413:3' Untranslated Regions; D004549:Elastin