Supplementary Figure 6: The rs13102260 (A) variant correlates with two distinct haplotype patterns. | Nature Neuroscience

Supplementary Figure 6: The rs13102260 (A) variant correlates with two distinct haplotype patterns.

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

Supplementary Figure 6

The 5′ upstream region and the polymorphic CCG region in exon 1 of the HD gene were analyzed using direct sequencing of 26 unrelated HD patients (UBC Biobank) carrying the rs13102260 (A) sequence variant. 55% (12/22) of HD subjects with the (A) sequence variant carried two repeat alleles at the 6bp VNTR loci in conjunction with the (CCG)7(CCT)3 polymorphism (referred to as CCG8), while 45% (10/22) carried the one-repeat allele at the 6bp VNTR (referred to as CCG7). (a) The 5’ upstream region including the 6bp VNTR and the rs13102260 (G/A) is indicated. Numbering of the sequence start is in relation to the transcriptional start site. (b) The CCG polymorphisms identified are indicated.

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