ID

45248

Descripción

Principal Investigator: Leena Peltonen (deceased), Wellcome Trust Sanger Institute, Cambridge, UK; Institute for Molecular Medicine Finland and National Institute for Health and Welfare, Helsinki, Finland; Broad Institute, Cambridge, MA, USA MeSH: Metabolic Syndrome X,Cardiovascular Diseases,Obesity,Hypercholesterolemia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000276 The Northern Finland Birth Cohorts program (NFBC) was initiated in the 1960s in the two northernmost provinces of Finland to study risk factors involved in pre-term birth and intrauterine growth retardation, and the consequences of these early adverse events on subsequent morbidity and mortality. The uniqueness of NBFCs is that the data of the cohorts were obtained from early fetal life (including maternal health during pregnancy) to adulthood. The NFBC1966 includes 12,058 live births to mothers in the two northern-most provinces of Finland. Two decades later, a second cohort of 9432 births was obtained (NFBC1986). In NFBC1966 pregnancies were followed prospectively from the first antenatal contact (10-16th week). After birth, the offspring were examined and then again underwent clinical evaluation at ages 1y, 7y, 14-16y and 31y. At each visit, a wide range of phenotypic, lifestyle and demographic data were gathered by questionnaires and clinical examinations. For the most part, NFBC1986 has undergone similar evaluations to NFBC1966. Linkage to national registries includes hospitalization, deaths, education, medication, pensions, and provides up-to-date demographic and clinical information for members of both cohorts. DNA samples were obtained from 5,923 subjects from NFBC1966 and 6688 subjects from NFBC1986. Data coverage, 96% of all births in 1966 and 99% in 1986, is highly representative for the whole population. The NFBC program comprises more than 20 different projects coordinated by the Center of Lifecourse Disease studies in Northern Finland (COLD) at Oulu University. The prospective data collected from the NFBCs form a unique resource, allowing the study of disease emergence, and of the importance of genetic, biological, social and behavioral risk factors. The genome-wide association (GWA) study sponsored through the STAMPEED program of NHLBI employed genomic DNA samples previously collected by the NFBC1966 study and stored in the DNA repository of the National Institute for Health and Welfare, Finland. This NHLBI sponsored RO1 project aimed to identify genetic variants contributing to metabolic and cardiovascular diseases (CVD). In addition to de-identified genome wide genotypic data, a selected list of phenotypic data related to CVD including weight, height, BMI, HDL, LDL, total cholesterol, triglyceride, glucose, insulin and fasting status, are also available in dbGaP. A summary of the GWAS for the NFBC1966 cardiovascular risk traits can be found in Sabatti et al., Nature Genetics 41: 35-46, 2009, PMID: 19060910. The *version 2 * release of this study contains sequence data from seventeen loci associated with levels of triglyceride, HDL-C, LDL-C, total cholesterol, fasting plasma glucose, and fasting plasma insulin (Kathiresan et al. 2008, Willer et al. 2008, Sabatti et al. 2009, Dupuis et al. 2010, Teslovich et al. 2010). At each locus, protein-coding regions and 5' and 3' untranslated regions of genes nearest to single nucleotide polymorphisms showing genome-wide significant association with metabolic syndrome-related traits, were sequenced. Targeted Illumina sequencing of 78 genes (~270kb) using 150bp probes was performed on 4943 subjects of the Northern Finland Birth Cohort 1966 (NFBC1966). Whole exome sequencing on the Illumina platform was carried out on 586 of those participants. The sequencing study is part of a larger project that is funded by the National Human Genome Research Institute's Allelic Spectrum in Common Disease Initiative, and comprises sequence data from more than 7000 individuals in two Finnish cohorts: NFBC1966 and the Finland-United States Investigation of NIDDM Genetics (FUSION) study.

Link

dbGaP study = phs000276

Palabras clave

  1. 4/7/22 4/7/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Leena Peltonen (deceased), Wellcome Trust Sanger Institute, Cambridge, UK; Institute for Molecular Medicine Finland and National Institute for Health and Welfare, Helsinki, Finland; Broad Institute, Cambridge, MA, USA

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000276 STAMPEED: Northern Finland Birth Cohort 1966 (NFBC1966)

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
A detailed description of design of the NFBC1966 study can be found at: Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, Elliot P, McCarthy MI, Daly MJ, Järvelin MR, Freimer NB, Peltonen L. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet. 2009 Jan;41(1):35-46, PMID: 19060910.
Descripción

Elig.phs000276.v2.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1522508
UMLS CUI [1,2]
C4687732
Specific exclusion criteria used in the above analyses include: Subjects were excluded from analysis of specific phenotypes on the basis of criteria that were established separately for each phenotype. Individuals were excluded from analysis of lipid phenotypes (TG, HDL, LDL) if the blood sample was not collected after fasting, or if they were diabetic. Individuals were excluded from analysis of GLU and INS if the blood sample was non-fasting, if they were diabetic, on diabetic medication, pregnant, or if their glucose/insulin measurement (after correction for sex, oral contraceptive use, and pregnancy status) was in excess of three standard deviations from the mean. Individuals were excluded from analysis of BMI if their weight was self-reported, or if they were pregnant. No exclusion criteria were applied to CRP or to SBP/DBP.
Descripción

Elig.phs000276.v2.p1.2

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [2,1]
C0005834
UMLS CUI [2,2]
C0523744
UMLS CUI [2,3]
C1298908
UMLS CUI [2,4]
C0015663
UMLS CUI [3,1]
C0005834
UMLS CUI [3,2]
C0523744
UMLS CUI [3,3]
C0241863
UMLS CUI [4,1]
C0005834
UMLS CUI [4,2]
C1337112
UMLS CUI [4,3]
C0017725
UMLS CUI [4,4]
C1298908
UMLS CUI [4,5]
C0015663
UMLS CUI [5,1]
C0005834
UMLS CUI [5,2]
C1337112
UMLS CUI [5,3]
C0017725
UMLS CUI [5,4]
C0241863
UMLS CUI [6,1]
C0005834
UMLS CUI [6,2]
C1337112
UMLS CUI [6,3]
C0017725
UMLS CUI [6,4]
C0935929
UMLS CUI [7,1]
C0005834
UMLS CUI [7,2]
C1337112
UMLS CUI [7,3]
C0017725
UMLS CUI [7,4]
C0032961
UMLS CUI [8,1]
C0005834
UMLS CUI [8,2]
C1337112
UMLS CUI [8,3]
C0017725
UMLS CUI [8,4]
C0202042
UMLS CUI [8,5]
C0202098
UMLS CUI [8,6]
C0442802
UMLS CUI [9,1]
C0936012
UMLS CUI [9,2]
C1305855
UMLS CUI [9,3]
C5191673
UMLS CUI [9,4]
C0032961
Any individual with genotyping call rates <95% was excluded from analysis. Subjects who were discrepant between their reported sex and the sex determined from the X Chromosome were excluded from analysis. We employed the identity-by-descent (IBD) analysis option of PLINK (Purcell et al. 2007, PMID: 17701901) to determine possible relatedness among our sample subjects, and to identify sample duplications and sample contamination (the latter identified as subjects who appeared to be related to nearly everyone in the sample). If the sample duplication issue could not be resolved by external means, both samples were excluded. All apparently contaminated samples were excluded. Individuals related at the level of half-sibs or closer were identified with the IBD analysis and one subject excluded from each pair (the subject with less complete genotyping). Subsequent to this overall exclusion, subjects may be excluded from analysis of specific phenotypes as detailed above.
Descripción

Elig.phs000276.v2.p1.3

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [2,1]
C3846158
UMLS CUI [3,1]
C1290905
UMLS CUI [3,2]
C0079399
UMLS CUI [3,3]
C2700446
UMLS CUI [3,4]
C0079399
UMLS CUI [3,5]
C0521095
UMLS CUI [3,6]
C0200867
UMLS CUI [4,1]
C2347026
UMLS CUI [4,2]
C0332597
UMLS CUI [5,1]
C0205279
UMLS CUI [5,2]
C2347026
UMLS CUI [6,1]
C0015608
UMLS CUI [6,2]
C0337505
UMLS CUI [7,1]
C0015608
UMLS CUI [7,2]
C1517194

Similar models

Eligibility Criteria

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000276.v2.p1.1
Item
A detailed description of design of the NFBC1966 study can be found at: Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, Elliot P, McCarthy MI, Daly MJ, Järvelin MR, Freimer NB, Peltonen L. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet. 2009 Jan;41(1):35-46, PMID: 19060910.
boolean
C1522508 (UMLS CUI [1,1])
C4687732 (UMLS CUI [1,2])
Elig.phs000276.v2.p1.2
Item
Specific exclusion criteria used in the above analyses include: Subjects were excluded from analysis of specific phenotypes on the basis of criteria that were established separately for each phenotype. Individuals were excluded from analysis of lipid phenotypes (TG, HDL, LDL) if the blood sample was not collected after fasting, or if they were diabetic. Individuals were excluded from analysis of GLU and INS if the blood sample was non-fasting, if they were diabetic, on diabetic medication, pregnant, or if their glucose/insulin measurement (after correction for sex, oral contraceptive use, and pregnancy status) was in excess of three standard deviations from the mean. Individuals were excluded from analysis of BMI if their weight was self-reported, or if they were pregnant. No exclusion criteria were applied to CRP or to SBP/DBP.
boolean
C0680251 (UMLS CUI [1,1])
C0005834 (UMLS CUI [2,1])
C0523744 (UMLS CUI [2,2])
C1298908 (UMLS CUI [2,3])
C0015663 (UMLS CUI [2,4])
C0005834 (UMLS CUI [3,1])
C0523744 (UMLS CUI [3,2])
C0241863 (UMLS CUI [3,3])
C0005834 (UMLS CUI [4,1])
C1337112 (UMLS CUI [4,2])
C0017725 (UMLS CUI [4,3])
C1298908 (UMLS CUI [4,4])
C0015663 (UMLS CUI [4,5])
C0005834 (UMLS CUI [5,1])
C1337112 (UMLS CUI [5,2])
C0017725 (UMLS CUI [5,3])
C0241863 (UMLS CUI [5,4])
C0005834 (UMLS CUI [6,1])
C1337112 (UMLS CUI [6,2])
C0017725 (UMLS CUI [6,3])
C0935929 (UMLS CUI [6,4])
C0005834 (UMLS CUI [7,1])
C1337112 (UMLS CUI [7,2])
C0017725 (UMLS CUI [7,3])
C0032961 (UMLS CUI [7,4])
C0005834 (UMLS CUI [8,1])
C1337112 (UMLS CUI [8,2])
C0017725 (UMLS CUI [8,3])
C0202042 (UMLS CUI [8,4])
C0202098 (UMLS CUI [8,5])
C0442802 (UMLS CUI [8,6])
C0936012 (UMLS CUI [9,1])
C1305855 (UMLS CUI [9,2])
C5191673 (UMLS CUI [9,3])
C0032961 (UMLS CUI [9,4])
Elig.phs000276.v2.p1.3
Item
Any individual with genotyping call rates <95% was excluded from analysis. Subjects who were discrepant between their reported sex and the sex determined from the X Chromosome were excluded from analysis. We employed the identity-by-descent (IBD) analysis option of PLINK (Purcell et al. 2007, PMID: 17701901) to determine possible relatedness among our sample subjects, and to identify sample duplications and sample contamination (the latter identified as subjects who appeared to be related to nearly everyone in the sample). If the sample duplication issue could not be resolved by external means, both samples were excluded. All apparently contaminated samples were excluded. Individuals related at the level of half-sibs or closer were identified with the IBD analysis and one subject excluded from each pair (the subject with less complete genotyping). Subsequent to this overall exclusion, subjects may be excluded from analysis of specific phenotypes as detailed above.
boolean
C0680251 (UMLS CUI [1,1])
C3846158 (UMLS CUI [2,1])
C1290905 (UMLS CUI [3,1])
C0079399 (UMLS CUI [3,2])
C2700446 (UMLS CUI [3,3])
C0079399 (UMLS CUI [3,4])
C0521095 (UMLS CUI [3,5])
C0200867 (UMLS CUI [3,6])
C2347026 (UMLS CUI [4,1])
C0332597 (UMLS CUI [4,2])
C0205279 (UMLS CUI [5,1])
C2347026 (UMLS CUI [5,2])
C0015608 (UMLS CUI [6,1])
C0337505 (UMLS CUI [6,2])
C0015608 (UMLS CUI [7,1])
C1517194 (UMLS CUI [7,2])

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