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. 2016 Feb 4;98(2):287–298. doi: 10.1016/j.ajhg.2015.12.018

Figure 5.

Figure 5

Duration Is Not Associated with rs146353869

On the basis of recent results from a genome-wide association (GWA) analysis, we tested whether duration is altered by a strong genetic modifier tagged by SNP rs146353869 on chromosome 15. HD subjects with the minor allele of this SNP developed clinical symptoms significantly (∼6 years) earlier than did subjects with a comparable expanded CAG length but without the minor allele of rs146353869.

(A) Among samples used in our GWA analysis aimed at identifying age-at-onset modifiers, 654 individuals had both age-at-onset and age-at-death data. Disease duration (i.e., age at death minus age at onset) was plotted against residual age at onset. Gray (636 subjects) and red (18 subjects) circles represent HD subjects without and with a minor allele for rs146353869, respectively.

(B and C) Residual age at onset (B) and duration (C) of HD subjects without (genotype 0) or with (genotype 1) a minor allele for rs146353869 are plotted. Black horizontal lines represent the mean. Mann-Whitney U tests were performed to compare residual age at death (p value = 0.01) and duration (p value = 0.37) between the two groups of HD subjects differentiated by the rs146353869 genotype.