ID

46155

Beschrijving

Principal Investigator: Patrick F. Sullivan, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA MeSH: Depressive Disorder, Major https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000486 Our goals are to develop a comprehensive understanding of the genomics of transcription in a population based unselected sample and to discover DNA and RNA biomarkers for major depressive disorder (MDD). This work is essential to developing a more complete understanding of the biological basis of MDD, a common complex trait associated with considerable morbidity, mortality, and personal/societal cost. All biological samples have been collected from well-defined populations, and are now available. First, we conduct a "genetical genomics" or eQTL study of ~800 MZ and ~800DZ twin pairs. Each subject has been assayed for genome-wide SNPs and CNVs and gene expression from peripheral blood sampled under standardized conditions. We determine the genetic architecture (genetic and non-genetic proportions of variance via twin analyses) for every transcript, and the genome-wide associations (i.e., SNP-transcript eQTL pairs). These analyses will be expanded to consider transcriptional modules. The key deliverable is a detailed catalogue of the general and specific architecture of transcription plus raw intensity files. Second, we seek to discover DNA and RNA biomarkers relevant to MDD, capitalizing on the results of a large MDD study with repeated clinical and biological assessments; we have previously shown that PB is a reasonable proxy for CNS expression and employ an advanced modelling framework: (a) Using baseline data, we identify biomarkers for MDD by comparing ~1000 controls with ~1400 MDD cases via comparisons of SNP, CNV, expression transcripts, and transcriptional modules. (b) Using longitudinal data, we contrast gene expression signatures assessed at baseline and two years later in ~200 controls and ~500 MDD cases.

Link

dbGap study=phs000486

Trefwoorden

  1. 16-11-22 16-11-22 - Kristina Keller
  2. 13-12-22 13-12-22 - Kristina Keller
  3. 29-01-25 29-01-25 - Akane Nishihara
Houder van rechten

Patrick F. Sullivan, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

Geüploaded op

29 januari 2025

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000486 Integration of Genomics and Transcriptomics in unselected Twins and in Major Depression

The dataset provides information about affection status (i.e. Major Depressive Disorder, diagnosed through application of the 'Composite International Diagnostic Interview' [CIDI]), menopausal status, BMI, and lifestyle variables, including alcohol consumption and smoking habits, plus sociodemographic data of participants. Several of the variables were measured twice, at time of the CIDI interview and at a later time during the study.

pht002805
Beschrijving

pht002805

De-identified dbGaP Subject ID
Beschrijving

SUBJID

Datatype

text

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C2346787
NTR or NESDA study participant
Beschrijving

cohort

Datatype

text

Alias
UMLS CUI [1,1]
C4554048
Gender of participant
Beschrijving

Sex

Datatype

text

Alias
UMLS CUI [1,1]
C4554048
UMLS CUI [1,2]
C0079399
Age at time of sampling
Beschrijving

Age

Datatype

text

Maateenheden
  • Years
Alias
UMLS CUI [1,1]
C0870078
UMLS CUI [1,2]
C0001779
Years
Lifetime Major Depressive Disorder, diagnosed by CIDI interview
Beschrijving

MDD

Datatype

text

Alias
UMLS CUI [1,1]
C1269683
UMLS CUI [1,2]
C0451085
UMLS CUI [1,3]
C4071830
Current smoker at time of sampling
Beschrijving

Smoker

Datatype

text

Alias
UMLS CUI [1,1]
C3241966
UMLS CUI [1,2]
C4546337
Alcohol drinker (ever 12 glasses or more per year)
Beschrijving

Alcohol

Datatype

text

Alias
UMLS CUI [1,1]
C0001948
Menopause status at time of sampling
Beschrijving

Menostat

Datatype

text

Alias
UMLS CUI [1,1]
C0455962
UMLS CUI [1,2]
C4546337
Body mass index at time of sampling
Beschrijving

BMI

Datatype

float

Maateenheden
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
UMLS CUI [1,2]
C4546337
kg/m2
Educational attainment
Beschrijving

Educat

Datatype

text

Alias
UMLS CUI [1,1]
C0013658
UMLS CUI [1,2]
C0001072
Age at time of second sampling
Beschrijving

Age2

Datatype

text

Maateenheden
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0205436
UMLS CUI [1,3]
C0870078
Number of weeks between first and second sampling
Beschrijving

Nweeks

Datatype

text

Maateenheden
  • Weeks
Alias
UMLS CUI [1,1]
C0449238
UMLS CUI [1,2]
C0870078
UMLS CUI [1,3]
C0205435
UMLS CUI [1,4]
C0205436
Major Depressive Disorder diagnosed since initial CIDI interview
Beschrijving

MDD2

Datatype

text

Alias
UMLS CUI [1,1]
C1269683
UMLS CUI [1,2]
C1711239
UMLS CUI [1,3]
C0451085
UMLS CUI [1,4]
C0205265
Current smoker at time of second sampling
Beschrijving

Smoker2

Datatype

text

Alias
UMLS CUI [1,1]
C3241966
UMLS CUI [1,2]
C0870078
UMLS CUI [1,3]
C0205436
Alcohol drinker (ever 12 glasses or more per year) at second sampling
Beschrijving

Alcohol2

Datatype

text

Alias
UMLS CUI [1,1]
C0001948
UMLS CUI [1,2]
C0870078
UMLS CUI [1,3]
C0205436
Menopause status at time of second sampling
Beschrijving

Menostat2

Datatype

text

Alias
UMLS CUI [1,1]
C0455962
UMLS CUI [1,2]
C0870078
UMLS CUI [1,3]
C0205436
Educational attainment at second sampling
Beschrijving

Educat2

Datatype

text

Alias
UMLS CUI [1,1]
C0013658
UMLS CUI [1,2]
C0001072
UMLS CUI [1,3]
C0870078
UMLS CUI [1,4]
C0205436
Body mass index at time of second sampling
Beschrijving

BMI2

Datatype

float

Maateenheden
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
UMLS CUI [1,2]
C0870078
UMLS CUI [1,3]
C0205436
kg/m2

Similar models

The dataset provides information about affection status (i.e. Major Depressive Disorder, diagnosed through application of the 'Composite International Diagnostic Interview' [CIDI]), menopausal status, BMI, and lifestyle variables, including alcohol consumption and smoking habits, plus sociodemographic data of participants. Several of the variables were measured twice, at time of the CIDI interview and at a later time during the study.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht002805
SUBJID
Item
De-identified dbGaP Subject ID
text
C2348585 (UMLS CUI [1,1])
C2346787 (UMLS CUI [1,2])
Item
NTR or NESDA study participant
text
C4554048 (UMLS CUI [1,1])
Code List
NTR or NESDA study participant
CL Item
NTR (1)
CL Item
NESDA (2)
Item
Gender of participant
text
C4554048 (UMLS CUI [1,1])
C0079399 (UMLS CUI [1,2])
Code List
Gender of participant
CL Item
Male (1)
C0086582 (UMLS CUI [1,1])
CL Item
Female (2)
C0086287 (UMLS CUI [1,1])
Age
Item
Age at time of sampling
text
C0870078 (UMLS CUI [1,1])
C0001779 (UMLS CUI [1,2])
Item
Lifetime Major Depressive Disorder, diagnosed by CIDI interview
text
C1269683 (UMLS CUI [1,1])
C0451085 (UMLS CUI [1,2])
C4071830 (UMLS CUI [1,3])
Code List
Lifetime Major Depressive Disorder, diagnosed by CIDI interview
CL Item
No (0)
CL Item
Yes (1)
Item
Current smoker at time of sampling
text
C3241966 (UMLS CUI [1,1])
C4546337 (UMLS CUI [1,2])
Code List
Current smoker at time of sampling
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (-1)
Item
Alcohol drinker (ever 12 glasses or more per year)
text
C0001948 (UMLS CUI [1,1])
Code List
Alcohol drinker (ever 12 glasses or more per year)
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (-1)
Item
Menopause status at time of sampling
text
C0455962 (UMLS CUI [1,1])
C4546337 (UMLS CUI [1,2])
Code List
Menopause status at time of sampling
CL Item
Male/NA (-2)
C0086582 (UMLS CUI [1,1])
C0686905 (UMLS CUI [2,1])
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
CL Item
Not in menopause (1)
C0025320 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
CL Item
Menopause, natural (2)
C0856856 (UMLS CUI [1,1])
CL Item
Menopause, operation or disease (3)
C0025320 (UMLS CUI [1,1])
C0543467 (UMLS CUI [1,2])
C0025320 (UMLS CUI [2,1])
C0012634 (UMLS CUI [2,2])
CL Item
(Recent) pregnancy (4)
C2169591 (UMLS CUI [1,1])
BMI
Item
Body mass index at time of sampling
float
C1305855 (UMLS CUI [1,1])
C4546337 (UMLS CUI [1,2])
Item
Educational attainment
text
C0013658 (UMLS CUI [1,1])
C0001072 (UMLS CUI [1,2])
Code List
Educational attainment
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
CL Item
Basic (1)
CL Item
Intermediate (2)
C0205103 (UMLS CUI [1,1])
CL Item
High (3)
C0205250 (UMLS CUI [1,1])
Item
Age at time of second sampling
text
C0001779 (UMLS CUI [1,1])
C0205436 (UMLS CUI [1,2])
C0870078 (UMLS CUI [1,3])
Code List
Age at time of second sampling
CL Item
Missing/NA (-1)
C1705492 (UMLS CUI [1,1])
Item
Number of weeks between first and second sampling
text
C0449238 (UMLS CUI [1,1])
C0870078 (UMLS CUI [1,2])
C0205435 (UMLS CUI [1,3])
C0205436 (UMLS CUI [1,4])
Code List
Number of weeks between first and second sampling
CL Item
Missing/NA (-1)
C1705492 (UMLS CUI [1,1])
Item
Major Depressive Disorder diagnosed since initial CIDI interview
text
C1269683 (UMLS CUI [1,1])
C1711239 (UMLS CUI [1,2])
C0451085 (UMLS CUI [1,3])
C0205265 (UMLS CUI [1,4])
Code List
Major Depressive Disorder diagnosed since initial CIDI interview
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
Item
Current smoker at time of second sampling
text
C3241966 (UMLS CUI [1,1])
C0870078 (UMLS CUI [1,2])
C0205436 (UMLS CUI [1,3])
Code List
Current smoker at time of second sampling
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
Item
Alcohol drinker (ever 12 glasses or more per year) at second sampling
text
C0001948 (UMLS CUI [1,1])
C0870078 (UMLS CUI [1,2])
C0205436 (UMLS CUI [1,3])
Code List
Alcohol drinker (ever 12 glasses or more per year) at second sampling
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
Item
Menopause status at time of second sampling
text
C0455962 (UMLS CUI [1,1])
C0870078 (UMLS CUI [1,2])
C0205436 (UMLS CUI [1,3])
Code List
Menopause status at time of second sampling
CL Item
Male/NA (-2)
C0086582 (UMLS CUI [1,1])
C0686905 (UMLS CUI [2,1])
CL Item
Not in menopause (1)
C0025320 (UMLS CUI [1,1])
C1518422 (UMLS CUI [1,2])
CL Item
Menopause, natural (2)
C0856856 (UMLS CUI [1,1])
CL Item
Menopause, operation or disease (3)
C0025320 (UMLS CUI [1,1])
C0543467 (UMLS CUI [1,2])
C0025320 (UMLS CUI [2,1])
C0012634 (UMLS CUI [2,2])
CL Item
(Recent) pregnancy (4)
C2169591 (UMLS CUI [1,1])
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
Item
Educational attainment at second sampling
text
C0013658 (UMLS CUI [1,1])
C0001072 (UMLS CUI [1,2])
C0870078 (UMLS CUI [1,3])
C0205436 (UMLS CUI [1,4])
Code List
Educational attainment at second sampling
CL Item
Basic (1)
CL Item
Intermediate (2)
C0205103 (UMLS CUI [1,1])
CL Item
High (3)
C0205250 (UMLS CUI [1,1])
CL Item
Missing (-1)
C1705492 (UMLS CUI [1,1])
BMI2
Item
Body mass index at time of second sampling
float
C1305855 (UMLS CUI [1,1])
C0870078 (UMLS CUI [1,2])
C0205436 (UMLS CUI [1,3])

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