Molecular Neurodegeneration 2011, 6:1doi:10.1186/1750-1326-6-1
Hong Van B Che, Silke Metzger, Esteban Portal, Carolin Deyle, Olaf Riess and Huu Phuc Nguyen.
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Results
Two SNPs, one in the promoter and one in the transcribed region of the gene, showed a significant effect on the AAO. While the minor allele of SNP rs7665116 (g.38570C), located in the transcribed gene region, was associated with a delay in disease onset, especially in HD patients with Italian ancestry, the minor allele of SNP rs2970870 (g.-1437C) in the promoter region leads to an earlier onset of HD in its homozygous state. Additionally, global testing of haplotype block 2, which covers the main part of the transcribed region of the gene, revealed an association between block 2 haplotypes and the disease onset.
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