Abstract
A significant linkage of intracranial aneurysm (IA) has recently been reported to chromosomal region 7q11 (MLS=3.22) in a genomic search of 85 Japanese nuclear families with at least two affected siblings (104 sib pairs). This region contains the elastin gene (ELN, OMIM 130160), which is a functional candidate gene for IA. We have replicated this finding through linkage analyses in 13 extended pedigrees from Utah, comprising 39 IA cases. We genotyped three markers flanking ELN and performed two-point and multipoint parametric analyses, employing simple dominant and recessive models. Analyses utilizing a recessive affecteds-only model yielded significant confirmation of linkage to the region (best evidence, multipoint TLOD=2.34, at D7S2421, corrected P=0.001). This study is the first to confirm the linkage of the 7q11 locus for IA.
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Acknowledgments
We thank Greggory Wood, Gayanne O’Neill, Thao Tran, Kim Nguyen, and Henry Buswell for their excellent technical assistance. We also thank the members of the families for their participation. This research was supported by a National Institute for Neurological Disorders and Stroke grant R01-NS-37737 (to L. C.-A.). No conflicts of interest exist for any author.
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Farnham, J.M., Camp, N.J., Neuhausen, S.L. et al. Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm. Hum Genet 114, 250–255 (2004). https://doi.org/10.1007/s00439-003-1044-z
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DOI: https://doi.org/10.1007/s00439-003-1044-z