Table 1 A total of 2164 methylation samples across blood, lymphoblastoid, and fibroblast tissues were used for human cross-sectional studies.

From: DNA methylation study of Huntington’s disease and motor progression in patients and in animal models

 

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

  1. 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.
  2. Continuous parameters are presented in the format of mean [min, max].
  3. HDGEC refers to HD gene-expansion carriers (combining pre-manifest and manifest individuals).
  4. 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.
Back to article page