Examination of ELN as a candidate gene in the Utah intracranial aneurysm pedigrees.
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.
Berthelemy-Okazaki
Nicole
N
Department of Medical Informatics, Ogden, Utah, USA.
Zhao
Yu
Y
Yang
Zhenglin
Z
Camp
Nicola J
NJ
Farnham
Jim
J
Parker
Dennis
D
Tsuruda
Jay
J
Macdonald
Joel
J
Zhang
Kang
K
Cannon-Albright
Lisa A
LA
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
D020413:3' Untranslated Regions; D004549:Elastin