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. 2020 Sep 10;11:4529. doi: 10.1038/s41467-020-18255-5

Table 1.

A total of 2164 methylation samples across blood, lymphoblastoid, and fibroblast tissues were used for human cross-sectional studies.

Parameter
Enroll-HD data 1 (N = 910) Enroll-HD data 2a (N = 357 × 2) Registry-HD (N = 376) Registry-HD (N = 100) CHDI (N = 64)
DNA source
Buffy coat Buffy coat Whole blood Lymphoblastoid Fibroblast
No. of individuals
 Manifest HD 393 204 298 79 37
 Pre-manifest 223 153 0 0 0
 Control 294 0 78 21 27
Age
 HDGEC 49 [18, 76] 45 [18, 76] 53 [19, 84] 52 [19, 82] 43 [31, 58]
 Control 51 [18, 76] 49 [20, 84] 52 [20, 82] 41 [31, 55]
CAG length
 HDGEC 43 [36, 51] 44 [37, 59] 45 [39, 67] 45 [39, 66] 44 [41, 50]
 Controls 20 [16, 35] 21 [14, 33] 21 [17, 31]
Age of motor onset
 HDGEC 46 [16, 73] 44 [17, 75] 44 [8, 75] 43 [8, 73]
DNA methylation
 Array type Illumina 450k Illumina EPIC Illumina 450k Illumina 450k Illumina 450k
 Normalization method Noob57 Noob57 Noob57 Noob57 Noob57
Data analysis Clock, EWAS, regression Clock, EWAS, regression Clock, EWAS, regression Clock, regression Clock, regression

Columns 1–5 correspond to blood methylation data from Enroll-HD data 1, Enroll-HD data 2, and the Registry-HD, respectively. For each individual in the Enroll-HD data 2, two blood samples were collected (separated by roughly 7.9 years). Only the first sample is described in the table. The last row specifies the use of these data: epigenetic clock analysis, epigenome-wide association study (EWAS), and multivariate regression analysis. Both Enroll-HD10 and Registry-HD11 are large-scale longitudinal observational cohorts for studying the onset and progression of Huntington’s disease. The last two columns correspond to non-blood methylation data from Registry-HD and CHDI, respectively. The CHDI Foundation is a privately funded, not-for-profit biomedical research organization devoted to a single disease—Huntington’s disease.

Continuous parameters are presented in the format of mean [min, max].

HDGEC refers to HD gene-expansion carriers (combining pre-manifest and manifest individuals).

aHD status and age estimates reported for the first blood draw for the DNA methylation study. The dataset involves 714 methylation samples from two longitudinal measures across 357 individuals.