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A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.
USA.
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2003 (English)In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 73, no 3, p. 682-7Article in journal (Refereed) Published
Abstract [en]

Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD.

Place, publisher, year, edition, pages
2003. Vol. 73, no 3, p. 682-7
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Nursing
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URN: urn:nbn:se:esh:diva-7514DOI: 10.1086/378133PubMedID: 12900792OAI: oai:DiVA.org:esh-7514DiVA, id: diva2:1317241
Available from: 2019-05-22 Created: 2019-05-22 Last updated: 2019-05-22Bibliographically approved

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