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Chemical Senses Advance Access originally published online on February 2, 2008
Chemical Senses 2008 33(4):319-329; doi:10.1093/chemse/bjm092
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© The Author 2008. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

A Genome-Wide Screen for Hyposmia Susceptibility Loci

Jayant M. Pinto1, Sanguansak Thanaviratananich1,2, M. Geoffrey Hayes3,4, Robert M. Naclerio1 and Carole Ober5

1 Section of Otolaryngology-Head and Neck Surgery, Department of Surgery, The Pritzker School of Medicine, The University of Chicago, Chicago, IL 60637, USA 2 Present address: Department of Otolaryngology, Khon Kaen University, Khon Kaen, 40002, Thailand 3 Section of Genetic Medicine, Department of Medicine, The Pritzker School of Medicine, The University of Chicago, Chicago, IL 60637, USA 4 Present address: Division of Endocrinology, Metabolism, and Molecular Medicine, Feinberg School of Medicine Northwestern University, Tarry 15-751 CH S217, 303 East Chicago Avenue, Chicago, IL 60611-3008, USA 5 Department of Human Genetics, The Pritzker School of Medicine, The University of Chicago, Chicago, IL 60637, USA

Correspondence to be sent to: Jayant M. Pinto, Section of Otolaryngology-Head and Neck Surgery, The University of Chicago, 5841 S. Maryland Avenue, MC 1035, Chicago, IL 60637, USA. e-mail: jpinto{at}surgery.bsd.uchicago.edu


  Abstract

Olfactory dysfunction is an important public health problem in the United States, with approximately 14 million elderly Americans having chronic olfactory impairment. We performed a genome-wide linkage scan for loci influencing susceptibility to hyposmia in the Hutterites, a founder population of European ancestry. Using interviews regarding the olfactory medical history and psychophysical smell testing, we identified 25 individuals with severe hyposmia. Elimination of subjects with confounding conditions yielded 7 hyposmics for analysis. A 52-member pedigree including all affected individuals was constructed from the larger, >1623-member pedigree, and a genome-wide screen for loci influencing the trait of hyposmia using 1123 markers was performed. The most significant evidence for linkage with hyposmia extended over a 45 cM region on chromosome 4q (P = 0.0013). Although this signal meets the criteria for suggestive linkage only and will require replication, these results offer the strongest data to date on the effects of genetic variation on olfactory dysfunction.

Key words: genome, hyposmia, linkage, olfaction

Accepted 7 December 2007


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