Supplementary Figure 8: Model for rs13102260 (G/A) as a bidirectional genetic modifier of HD age of onset. | Nature Neuroscience

Supplementary Figure 8: Model for rs13102260 (G/A) as a bidirectional genetic modifier of HD age of onset.

From: A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease

Supplementary Figure 8

rs13102260 (G/A) is located in the identified NF-κB TFBS in the HTT promoter immediately proximal to the 5’UTR of the HTT gene. The rs13102260 (A) sequence variant impaired NF-κB binding, and reduced transcriptional activity of the HTT gene and HTT protein levels. Presence of the rs13102260 (A) variant on the wild-type allele associated with reduced wild-type HTT protein levels and earlier AO, while the (A) variant on the HD disease allele associated with lower mutant HTT (mHTT) protein levels and delayed AO in HD patients.

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