ID

45920

Descrição

Principal Investigator: Braxton D. Mitchell, PhD, University of Maryland, Baltimore, MD, USA MeSH: Cardiovascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000956 The Amish Complex Disease Research Program includes a set of large community-based studies focused largely on cardiometabolic health carried out in the Old Order Amish (OOA) community of Lancaster, Pennsylvania (http://medschool.umaryland.edu/endocrinology/amish/research-program.asp). The OOA population of Lancaster County, PA immigrated to the Colonies from Western Europe in the early 1700's. There are now over 30,000 OOA individuals in the Lancaster area, nearly all of whom can trace their ancestry back 12-14 generations to approximately 700 founders. Investigators at the University of Maryland School of Medicine have been studying the genetic determinants of cardiometabolic health in this population since 1993. To date, over 7,000 Amish adults have participated in one or more of our studies. Due to their ancestral history, the OOA may be enriched for rare variants that arose in the population from a single founder (or small number of founders) and propagated through genetic drift. Many of these variants have large effect sizes and identifying them can lead to new biological insights about health and disease. The parent study for this WGS project provides one (of multiple) examples. In our parent study, we identified through a genome-wide association analysis a haplotype that was highly enriched in the OOA that is associated with very high LDL-cholesterol levels. At the present time, the identity of the causative SNP - and even the implicated gene - is not known because the associated haplotype contains numerous genes, none of which are obvious lipid candidate genes. A major goal of the WGS that will be obtained through the NHLBI TOPMed Consortium will be to identify functional variants that underlie some of the large effect associations observed in this unique population.

Link

dbGaP study = phs000956

Palavras-chave

Versões (1)
  1. 07-02-24 07-02-24 - Simon Heim
Titular dos direitos

Braxton D. Mitchell, PhD, University of Maryland, Baltimore, MD, USA

Transferido a

7 februari 2024

DOI

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Licença

Creative Commons BY 4.0
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dbGaP phs000956 NHLBI TOPMed: Genetics of Cardiometabolic Health in the Amish

Inglês

Eligibility Criteria

6 Formulários  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, and subject aliases.
    3. This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    4. This subject phenotype table includes subject's sex, age at blood draw, and phenotype study (Amish Family HAPI Heart Study, Amish Family Longevity Study, and Amish Family Wellness Study). The variables collected at baseline visit are anthropometric measures (n=5; weight, height, bmi, whr, and waist), age, myocardial infarction, T2D, stroke, pregnancy status, CAC score and age, IMT thickness and plaque, EKG measures (n=4; QRS, QT, PR, and heart rate), inflammatory markers (n=4, fibrinogen, CRP, IL-6, Lpa), blood pressure (n=2, SBP and DBP), fasting insulin and glucose measures, blood measurements (n=10; WBC, hemoglobin, hematocrit, RBC, and platelets), metabolic measures (n=5; creatine, LDL, HDL, triglycerides, and total cholesterol), lung capacity (n=2; FVC and FEV), medications (n=3; hypertension, T2D, and lipid), and smoking status.
    5. This sample attributes table includes body site where sample was collected, histological type, analyte type, tumor status, sequencing center, funding source, TOPMed phase, study name, and project.
    6. The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, twin IDs, gender, and second degree relationships.
Inclusion and exclusion criteria
Descrição

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Subjects included in this sequencing sample were from the Amish HAPI Heart Study and the Amish Longevity Study. Participants from these studies were relatively healthy subjects recruited from the Amish community of Lancaster County, PA. Individuals aged 20 years and older were eligible to participate in the HAPI Heart Study along with their age-eligible family members. Amish Longevity Study subjects included long-lived probands aged 90 years or older, their offspring, and spouses of their offspring. HAPI Study exclusion criteria included pregnancy or postpartum < 6 months, high blood pressure (< 180 mmHg SBP or > 105 mmHg DBP), current use of prescription medications that could not safely or willingly discontinued, coexisting malignancy, serum creatinine > 2.0 mg/dL, elevated liver enzymes (AST or ALT > 2X upper limit of normal), hematocrit < 32%, or abnormal TSH (< 0.4 or > 5.5 mIU/L).
Descrição

Subjects included in this sequencing sample were from the Amish HAPI Heart Study and the Amish Longevity Study. Participants from these studies were relatively healthy subjects recruited from the Amish community of Lancaster County, PA. Individuals aged 20 years and older were eligible to participate in the HAPI Heart Study along with their age-eligible family members. Amish Longevity Study subjects included long-lived probands aged 90 years or older, their offspring, and spouses of their offspring. HAPI Study exclusion criteria included pregnancy or postpartum < 6 months, high blood pressure (< 180 mmHg SBP or > 105 mmHg DBP), current use of prescription medications that could not safely or willingly discontinued, coexisting malignancy, serum creatinine > 2.0 mg/dL, elevated liver enzymes (AST or ALT > 2X upper limit of normal), hematocrit < 32%, or abnormal TSH (< 0.4 or > 5.5 mIU/L).

Tipo de dados

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1294197
UMLS CUI [1,3]
C0370003
UMLS CUI [1,4]
C0238622
UMLS CUI [1,5]
C0023980
UMLS CUI [1,6]
C0947630
UMLS CUI [1,7]
C0489835
UMLS CUI [1,8]
C3846158
UMLS CUI [2,1]
C3897120
UMLS CUI [2,2]
C0080105
UMLS CUI [2,3]
C0238622
UMLS CUI [2,4]
C3813649
UMLS CUI [3,1]
C0001779
UMLS CUI [3,2]
C1548635
UMLS CUI [3,3]
C0489835
UMLS CUI [3,4]
C3846158
UMLS CUI [3,5]
C0086282
UMLS CUI [4,1]
C0023980
UMLS CUI [4,2]
C3846158
UMLS CUI [4,3]
C0947630
UMLS CUI [4,4]
C0001779
UMLS CUI [4,5]
C1948021
UMLS CUI [4,6]
C0680063
UMLS CUI [4,7]
C0162409
UMLS CUI [5,1]
C0680251
UMLS CUI [5,2]
C0032961
UMLS CUI [5,3]
C0086839
UMLS CUI [5,4]
C4071833
UMLS CUI [5,5]
C0020538
UMLS CUI [5,6]
C3843193
UMLS CUI [5,7]
C4036038
UMLS CUI [5,8]
C1444662
UMLS CUI [5,9]
C0006826
UMLS CUI [5,10]
C0201976
UMLS CUI [5,11]
C0235996
UMLS CUI [5,12]
C0018935
UMLS CUI [5,13]
C4476968
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Similar models

Eligibility Criteria

6 Formulários
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. The subject consent data table contains subject IDs, consent group information, and subject aliases.
    3. This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
    4. This subject phenotype table includes subject's sex, age at blood draw, and phenotype study (Amish Family HAPI Heart Study, Amish Family Longevity Study, and Amish Family Wellness Study). The variables collected at baseline visit are anthropometric measures (n=5; weight, height, bmi, whr, and waist), age, myocardial infarction, T2D, stroke, pregnancy status, CAC score and age, IMT thickness and plaque, EKG measures (n=4; QRS, QT, PR, and heart rate), inflammatory markers (n=4, fibrinogen, CRP, IL-6, Lpa), blood pressure (n=2, SBP and DBP), fasting insulin and glucose measures, blood measurements (n=10; WBC, hemoglobin, hematocrit, RBC, and platelets), metabolic measures (n=5; creatine, LDL, HDL, triglycerides, and total cholesterol), lung capacity (n=2; FVC and FEV), medications (n=3; hypertension, T2D, and lipid), and smoking status.
    5. This sample attributes table includes body site where sample was collected, histological type, analyte type, tumor status, sequencing center, funding source, TOPMed phase, study name, and project.
    6. The pedigree data table shows family relationships through family IDs, subject IDs, father IDs, mother IDs, twin IDs, gender, and second degree relationships.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Subjects included in this sequencing sample were from the Amish HAPI Heart Study and the Amish Longevity Study. Participants from these studies were relatively healthy subjects recruited from the Amish community of Lancaster County, PA. Individuals aged 20 years and older were eligible to participate in the HAPI Heart Study along with their age-eligible family members. Amish Longevity Study subjects included long-lived probands aged 90 years or older, their offspring, and spouses of their offspring. HAPI Study exclusion criteria included pregnancy or postpartum < 6 months, high blood pressure (< 180 mmHg SBP or > 105 mmHg DBP), current use of prescription medications that could not safely or willingly discontinued, coexisting malignancy, serum creatinine > 2.0 mg/dL, elevated liver enzymes (AST or ALT > 2X upper limit of normal), hematocrit < 32%, or abnormal TSH (< 0.4 or > 5.5 mIU/L).
Item
Subjects included in this sequencing sample were from the Amish HAPI Heart Study and the Amish Longevity Study. Participants from these studies were relatively healthy subjects recruited from the Amish community of Lancaster County, PA. Individuals aged 20 years and older were eligible to participate in the HAPI Heart Study along with their age-eligible family members. Amish Longevity Study subjects included long-lived probands aged 90 years or older, their offspring, and spouses of their offspring. HAPI Study exclusion criteria included pregnancy or postpartum < 6 months, high blood pressure (< 180 mmHg SBP or > 105 mmHg DBP), current use of prescription medications that could not safely or willingly discontinued, coexisting malignancy, serum creatinine > 2.0 mg/dL, elevated liver enzymes (AST or ALT > 2X upper limit of normal), hematocrit < 32%, or abnormal TSH (< 0.4 or > 5.5 mIU/L).
boolean
C1512693 (UMLS CUI [1,1])
C1294197 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
C0238622 (UMLS CUI [1,4])
C0023980 (UMLS CUI [1,5])
C0947630 (UMLS CUI [1,6])
C0489835 (UMLS CUI [1,7])
C3846158 (UMLS CUI [1,8])
C3897120 (UMLS CUI [2,1])
C0080105 (UMLS CUI [2,2])
C0238622 (UMLS CUI [2,3])
C3813649 (UMLS CUI [2,4])
C0001779 (UMLS CUI [3,1])
C1548635 (UMLS CUI [3,2])
C0489835 (UMLS CUI [3,3])
C3846158 (UMLS CUI [3,4])
C0086282 (UMLS CUI [3,5])
C0023980 (UMLS CUI [4,1])
C3846158 (UMLS CUI [4,2])
C0947630 (UMLS CUI [4,3])
C0001779 (UMLS CUI [4,4])
C1948021 (UMLS CUI [4,5])
C0680063 (UMLS CUI [4,6])
C0162409 (UMLS CUI [4,7])
C0680251 (UMLS CUI [5,1])
C0032961 (UMLS CUI [5,2])
C0086839 (UMLS CUI [5,3])
C4071833 (UMLS CUI [5,4])
C0020538 (UMLS CUI [5,5])
C3843193 (UMLS CUI [5,6])
C4036038 (UMLS CUI [5,7])
C1444662 (UMLS CUI [5,8])
C0006826 (UMLS CUI [5,9])
C0201976 (UMLS CUI [5,10])
C0235996 (UMLS CUI [5,11])
C0018935 (UMLS CUI [5,12])
C4476968 (UMLS CUI [5,13])
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