ID

45800

Description

Principal Investigator: Steven Finkbeiner, Gladstone Institutes, San Francesco, CA, USA MeSH: Huntington Disease,Degenerative Hereditary Diseases, Nervous System,Cell Death,Brain Diseases,Ataxia,Chorea,Cognition Disorders,Dyskinesias,Mental Disorders https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001071 The goal of our studies is to identify genetic modifiers of neurodegeneration in Huntington's disease (HD). HD is caused by expansion of CAG repeats in the huntingtin (Htt) gene, with longer stretches often leading to more rapid disease onset and progression. Yet, for a given number of repeats, the age of symptom onset can be variable, differing by up to decades. Thus, the age of onset of motor symptoms in HD is only partly explained by the length of the CAG expansion. Available evidence suggests that genetic modifiers contribute to the variation in HD onset. Identifying genetic modifiers is important because they may provide critical insights into HD pathogenesis and reveal key pathways that could be targeted by novel HD therapeutics. This is important since there are no disease-modifying therapies for HD, and mHtt is an unattractive small-molecule drug target. We recruited 21 HD families with varying characteristics of disease progression and age of onset and obtained medical histories, clinical records and DNA samples that were subjected to whole-genome sequencing (WGS). These WGS data describe families of 104 subjects, including HD patients and their unaffected family members. These individuals were selected based on individual clinical histories and family structures that best fit our criteria for expressing potential genetic modifiers. We are testing the hypothesis that novel, rare genetic variants contribute to HD and those genetic modifiers can be identified by WGS.

Link

dbGaP-study=phs001071

Keywords

Versions (1)
  1. 6/23/23 6/23/23 - Chiara Middel
Copyright Holder

Steven Finkbeiner, Gladstone Institutes, San Francesco, CA, USA

Uploaded on

June 23, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001071 NINDS Family-Based Whole-Genome Sequencing to Find HD Modifiers

English

The dataset provides information about the affection status, number of CAG repeats and general sociodemographic data.

6 forms  
pht005347
Description

pht005347

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Description

SUBJECT_ID

Data type

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Individual has HD or not at time of assessment
Description

affected

Data type

text

Alias
UMLS CUI [1,1]
C0522476
UMLS CUI [1,2]
C0449438
UMLS CUI [1,3]
C0020179
UMLS CUI [1,4]
C2985720
Disease onset age
Description

age_onset

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0206132
Years
Subject age at last assessment
Description

age_assessed

Data type

text

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1517741
UMLS CUI [1,3]
C2985720
Years
Gender of participant
Description

sex

Data type

text

Alias
UMLS CUI [1,1]
C0079399
Race of participant
Description

race

Data type

string

Alias
UMLS CUI [1,1]
C0034510
CAG repeat size from one allele (major)
Description

CAG_repeat_size_1

Data type

text

Measurement units
  • CAG repeats
Alias
UMLS CUI [1,1]
C3846158
UMLS CUI [1,2]
C0205341
UMLS CUI [1,3]
C0456389
UMLS CUI [1,4]
C0205164
UMLS CUI [1,5]
C0002085
CAG repeat size from one allele (minor)
Description

CAG_repeat_size_2

Data type

text

Measurement units
  • CAG repeats
Alias
UMLS CUI [1,1]
C3846158
UMLS CUI [1,2]
C0205341
UMLS CUI [1,3]
C0456389
UMLS CUI [1,4]
C0205165
UMLS CUI [1,5]
C0002085
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Similar models

The dataset provides information about the affection status, number of CAG repeats and general sociodemographic data.

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht005347
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Individual has HD or not at time of assessment
text
C0522476 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
C0020179 (UMLS CUI [1,3])
C2985720 (UMLS CUI [1,4])
affected
Code List
Individual has HD or not at time of assessment
CL Item
Affected (1)
C3274647 (UMLS CUI [1,1])
CL Item
Unaffected (2)
C3274648 (UMLS CUI [1,1])
CL Item
Control (3)
C3274648 (UMLS CUI [1,1])
age_onset
Item
Disease onset age
text
C0206132 (UMLS CUI [1,1])
age_assessed
Item
Subject age at last assessment
text
C0001779 (UMLS CUI [1,1])
C1517741 (UMLS CUI [1,2])
C2985720 (UMLS CUI [1,3])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
sex
Code List
Gender of participant
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
Item
Race of participant
string
C0034510 (UMLS CUI [1,1])
race
Code List
Race of participant
CL Item
African American (African American)
CL Item
Asian (Asian)
CL Item
Caucasian (Caucasian)
CL Item
Not applicable (NA)
C1272460 (UMLS CUI [1,1])
CL Item
Unknown (UNK)
Item
CAG repeat size from one allele (major)
text
C3846158 (UMLS CUI [1,1])
C0205341 (UMLS CUI [1,2])
C0456389 (UMLS CUI [1,3])
C0205164 (UMLS CUI [1,4])
C0002085 (UMLS CUI [1,5])
CAG_repeat_size_1
Code List
CAG repeat size from one allele (major)
CL Item
Unknown (0)
Item
CAG repeat size from one allele (minor)
text
C3846158 (UMLS CUI [1,1])
C0205341 (UMLS CUI [1,2])
C0456389 (UMLS CUI [1,3])
C0205165 (UMLS CUI [1,4])
C0002085 (UMLS CUI [1,5])
CAG_repeat_size_2
Code List
CAG repeat size from one allele (minor)
CL Item
Unknown (0)
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