Published Online
on May 12, 2005

A more recent version of this article appeared on June 1, 2005

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Submitted on December 14, 2004
Revised on March 1, 2005
Accepted on March 3, 2005

Examination of ELN as a Candidate Gene in the Utah Intracranial Aneurysm Pedigrees

Nicole Berthelemy-Okazaki PhD; Yu Zhao BS; Zhenglin Yang MD; Nicola J. Camp PhD; Jim Farnham MS; Dennis Parker PhD; Jay Tsuruda MD; Joel MacDonald MD; Kang Zhang MD, PhD; and Lisa A. Cannon-Albright PhD^*

From the Department of Medical Informatics (N.B.-O., N.J.C., J.F., D.P., L.A.C.-A.), University of Utah School of Medicine; the Weber State University (N.B.-O.), Ogden, Utah; the Department of Radiology (D.P.), University of Utah School of Medicine; Visiting Scholar in Department of Radiology (J.T.), University of Utah School of Medicine; the Department of Neurosurgery (J.M.), University of Utah School of Medicine; and Ophthalmology-Services (Y.Z., Z.Y., K.Z.), John A. Moran Eye Center, University of Utah School of Medicine.

^* To whom correspondence should be addressed. E-mail: lisa{at}genepi.med.utah.edu.

Background and Purpose--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.

Conclusion--Our analysis does not support ELN as the gene responsible for familial IA in the linked Utah IA pedigrees.

Key words: aneurysm • genetics • intracranial aneurysm • pedigree

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