ID

45180

Beschrijving

Principal Investigator: Hong-Wen Deng, PhD, Tulane University, New Orleans, LA, USA MeSH: Osteoporosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000390 Osteoporosis is a condition of excessive skeletal fragility which results in high risk to low trauma fractures. It is the most prevalent metabolic bone disease and is a major public health problem which may result in devastating morbidity and mortality. The most powerful, measurable determinant of fracture risk is bone mineral density (BMD). More than 60% of BMD variation is attributable to genetic factors. There are gender differences in BMD that contribute to a substantially higher fracture risk among women than men. Genetic studies demonstrate that some osteoporosis risk genes/genomic regions are gender specific. However, specific such genes contributing to female BMD and to the sex differences of BMD are largely unknown. Recent rapid progresses in SNP genotyping technology, in our knowledge about human genome diversity and linkage disequilibrium (LD) patterns in the human genome as revealed have made it feasible and timely to pursue a powerful whole genome-wide association study (GWAS) to identify genes for BMD. The major goal of this project is to perform a powerful GWAS study in a large sample of US Caucasian subjects. Gender specific effects of the genetic variants will be examined. The significant genetic variants discovered will be used to design diagnostic DNA chips for prognosis for potential health problems of osteoporosis later in life.

Link

dbGaP study = phs000390

Trefwoorden

  1. 20-08-22 20-08-22 - Chiara Middel
  2. 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten

Hong-Wen Deng, PhD, Tulane University, New Orleans, LA, USA

Geüploaded op

12 oktober 2022

DOI

Voor een aanvraag inloggen.

Licentie

Creative Commons BY 4.0

Model Commentaren :

Hier kunt u commentaar leveren op het model. U kunt de tekstballonnen bij de itemgroepen en items gebruiken om er specifiek commentaar op te geven.

Itemgroep Commentaren voor :

Item Commentaren voor :

U moet ingelogd zijn om formulieren te downloaden. AUB inloggen of schrijf u gratis in.

dbGaP phs000390 Genomic Wide Scans for Female Osteoporosis Genes

Eligibility Criteria

Inclusion and exclusion criteria
Beschrijving

Inclusion and exclusion criteria

Subjects included in this project are unrelated random US Caucasian adults.
Beschrijving

Elig.phs000390.v1.p1.1

Datatype

boolean

Alias
UMLS CUI [1,1]
C0043157
UMLS CUI [1,2]
C1546988
Individuals must meet the following inclusion criteria to be eligible to participate in the study:
Beschrijving

Elig.phs000390.v1.p1.2

Datatype

boolean

Alias
UMLS CUI [1,1]
C1512693
Caucasians of European origin;
Beschrijving

Elig.phs000390.v1.p1.3

Datatype

boolean

Alias
UMLS CUI [1,1]
C0043157
UMLS CUI [1,2]
C0425355
Be ≥18 years of age (to ensure peak bone mass is attained);
Beschrijving

Elig.phs000390.v1.p1.4

Datatype

boolean

Alias
UMLS CUI [1,1]
C0001779
Be willing to participate in the study and attend exam for bone densitometry and blood draw.
Beschrijving

Elig.phs000390.v1.p1.5

Datatype

boolean

Alias
UMLS CUI [1,1]
C0600109
UMLS CUI [1,2]
C1999232
UMLS CUI [1,3]
C4321457
UMLS CUI [1,4]
C0920149
UMLS CUI [1,5]
C0190979
We adopted the following exclusion criteria to minimize nongenetic influence on bone mass variation so as to empirically enhance the importance of individual genetic factors for bone mass:
Beschrijving

Elig.phs000390.v1.p1.6

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C4054723
UMLS CUI [1,3]
C0005938
Female subjects who are, or could be pregnant;
Beschrijving

Elig.phs000390.v1.p1.7

Datatype

boolean

Alias
UMLS CUI [1,1]
C0032961
Female subjects who have had an oophorectomy;
Beschrijving

Elig.phs000390.v1.p1.8

Datatype

boolean

Alias
UMLS CUI [1,1]
C0279787
Serious residuals from cerebral vascular disease;
Beschrijving

Elig.phs000390.v1.p1.9

Datatype

boolean

Alias
UMLS CUI [1,1]
C1609982
UMLS CUI [1,2]
C0006104
UMLS CUI [1,3]
C0042373
Diabetes mellitus, except for easily controlled, non insulin dependent diabetes mellitus;
Beschrijving

Elig.phs000390.v1.p1.10

Datatype

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [2,1]
C0332300
UMLS CUI [2,2]
C2911690
UMLS CUI [2,3]
C0011860
Chronic renal disease manifest by serum creatinine >1.9 mg/dl;
Beschrijving

Elig.phs000390.v1.p1.11

Datatype

boolean

Alias
UMLS CUI [1,1]
C0201976
UMLS CUI [1,2]
C1561643
Chronic liver disease or alcoholism;
Beschrijving

Elig.phs000390.v1.p1.12

Datatype

boolean

Alias
UMLS CUI [1,1]
C0341439
UMLS CUI [2,1]
C0038586
UMLS CUI [2,2]
C0001973
Significant chronic lung disease;
Beschrijving

Elig.phs000390.v1.p1.13

Datatype

boolean

Alias
UMLS CUI [1,1]
C0746102
Corticosteroid therapy at pharmacologic levels for more than 6 months duration;
Beschrijving

Elig.phs000390.v1.p1.14

Datatype

boolean

Alias
UMLS CUI [1,1]
C0149783
UMLS CUI [1,2]
C4071833
Treatment with anticonvulsant therapy for more than 6 months duration;
Beschrijving

Elig.phs000390.v1.p1.15

Datatype

boolean

Alias
UMLS CUI [1,1]
C4071833
UMLS CUI [1,2]
C0521306
Evidence of other metabolic or inherited bone disease such as hyper- or hypoparathyroidism, Paget's disease, osteomalacia, osteogenisis imperfecta or others;
Beschrijving

Elig.phs000390.v1.p1.16

Datatype

boolean

Alias
UMLS CUI [1,1]
C0005944
UMLS CUI [1,2]
C0019247
UMLS CUI [1,3]
C0020502
UMLS CUI [1,4]
C0020626
UMLS CUI [1,5]
C1368019
UMLS CUI [1,6]
C0029442
UMLS CUI [1,7]
C0029434
Rheumatoid arthritis or collagen disease;
Beschrijving

Elig.phs000390.v1.p1.17

Datatype

boolean

Alias
UMLS CUI [1,1]
C0003873
UMLS CUI [1,2]
C0009326
Recent major gastrointestinal disease (within the past year) such as peptic ulcer, malabsorption, chronic ulcerative colitis, regional enteritis, or any significant chronic diarrhea state;
Beschrijving

Elig.phs000390.v1.p1.18

Datatype

boolean

Alias
UMLS CUI [1,1]
C0017178
UMLS CUI [1,2]
C0030920
UMLS CUI [1,3]
C0009324
UMLS CUI [1,4]
C0678202
UMLS CUI [1,5]
C0401151
Significant disease of any endocrine organ that would affect BMD;
Beschrijving

Elig.phs000390.v1.p1.19

Datatype

boolean

Alias
UMLS CUI [1,1]
C1397856
UMLS CUI [1,2]
C0005938
Hyperthyroidism;
Beschrijving

Elig.phs000390.v1.p1.20

Datatype

boolean

Alias
UMLS CUI [1,1]
C0020550
Any neurologic or musculoskeletal condition that would be a non-genetic cause of low BMD;
Beschrijving

Elig.phs000390.v1.p1.21

Datatype

boolean

Alias
UMLS CUI [1,1]
C0026857
UMLS CUI [1,2]
C0027765
UMLS CUI [1,3]
C0205251
UMLS CUI [1,4]
C0005938
Any disease, treatment (e.g., bisphosphonates, evista and teraparatide), or condition that would be an apparent non-genetic cause for BMD variation.
Beschrijving

Elig.phs000390.v1.p1.22

Datatype

boolean

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0087111
UMLS CUI [1,3]
C0348080
UMLS CUI [1,4]
C0005938
UMLS CUI [1,5]
C0443172

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000390.v1.p1.1
Item
Subjects included in this project are unrelated random US Caucasian adults.
boolean
C0043157 (UMLS CUI [1,1])
C1546988 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.2
Item
Individuals must meet the following inclusion criteria to be eligible to participate in the study:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000390.v1.p1.3
Item
Caucasians of European origin;
boolean
C0043157 (UMLS CUI [1,1])
C0425355 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.4
Item
Be ≥18 years of age (to ensure peak bone mass is attained);
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000390.v1.p1.5
Item
Be willing to participate in the study and attend exam for bone densitometry and blood draw.
boolean
C0600109 (UMLS CUI [1,1])
C1999232 (UMLS CUI [1,2])
C4321457 (UMLS CUI [1,3])
C0920149 (UMLS CUI [1,4])
C0190979 (UMLS CUI [1,5])
Elig.phs000390.v1.p1.6
Item
We adopted the following exclusion criteria to minimize nongenetic influence on bone mass variation so as to empirically enhance the importance of individual genetic factors for bone mass:
boolean
C0680251 (UMLS CUI [1,1])
C4054723 (UMLS CUI [1,2])
C0005938 (UMLS CUI [1,3])
Elig.phs000390.v1.p1.7
Item
Female subjects who are, or could be pregnant;
boolean
C0032961 (UMLS CUI [1,1])
Elig.phs000390.v1.p1.8
Item
Female subjects who have had an oophorectomy;
boolean
C0279787 (UMLS CUI [1,1])
Elig.phs000390.v1.p1.9
Item
Serious residuals from cerebral vascular disease;
boolean
C1609982 (UMLS CUI [1,1])
C0006104 (UMLS CUI [1,2])
C0042373 (UMLS CUI [1,3])
Elig.phs000390.v1.p1.10
Item
Diabetes mellitus, except for easily controlled, non insulin dependent diabetes mellitus;
boolean
C0011849 (UMLS CUI [1,1])
C0332300 (UMLS CUI [2,1])
C2911690 (UMLS CUI [2,2])
C0011860 (UMLS CUI [2,3])
Elig.phs000390.v1.p1.11
Item
Chronic renal disease manifest by serum creatinine >1.9 mg/dl;
boolean
C0201976 (UMLS CUI [1,1])
C1561643 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.12
Item
Chronic liver disease or alcoholism;
boolean
C0341439 (UMLS CUI [1,1])
C0038586 (UMLS CUI [2,1])
C0001973 (UMLS CUI [2,2])
Elig.phs000390.v1.p1.13
Item
Significant chronic lung disease;
boolean
C0746102 (UMLS CUI [1,1])
Elig.phs000390.v1.p1.14
Item
Corticosteroid therapy at pharmacologic levels for more than 6 months duration;
boolean
C0149783 (UMLS CUI [1,1])
C4071833 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.15
Item
Treatment with anticonvulsant therapy for more than 6 months duration;
boolean
C4071833 (UMLS CUI [1,1])
C0521306 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.16
Item
Evidence of other metabolic or inherited bone disease such as hyper- or hypoparathyroidism, Paget's disease, osteomalacia, osteogenisis imperfecta or others;
boolean
C0005944 (UMLS CUI [1,1])
C0019247 (UMLS CUI [1,2])
C0020502 (UMLS CUI [1,3])
C0020626 (UMLS CUI [1,4])
C1368019 (UMLS CUI [1,5])
C0029442 (UMLS CUI [1,6])
C0029434 (UMLS CUI [1,7])
Elig.phs000390.v1.p1.17
Item
Rheumatoid arthritis or collagen disease;
boolean
C0003873 (UMLS CUI [1,1])
C0009326 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.18
Item
Recent major gastrointestinal disease (within the past year) such as peptic ulcer, malabsorption, chronic ulcerative colitis, regional enteritis, or any significant chronic diarrhea state;
boolean
C0017178 (UMLS CUI [1,1])
C0030920 (UMLS CUI [1,2])
C0009324 (UMLS CUI [1,3])
C0678202 (UMLS CUI [1,4])
C0401151 (UMLS CUI [1,5])
Elig.phs000390.v1.p1.19
Item
Significant disease of any endocrine organ that would affect BMD;
boolean
C1397856 (UMLS CUI [1,1])
C0005938 (UMLS CUI [1,2])
Elig.phs000390.v1.p1.20
Item
Hyperthyroidism;
boolean
C0020550 (UMLS CUI [1,1])
Elig.phs000390.v1.p1.21
Item
Any neurologic or musculoskeletal condition that would be a non-genetic cause of low BMD;
boolean
C0026857 (UMLS CUI [1,1])
C0027765 (UMLS CUI [1,2])
C0205251 (UMLS CUI [1,3])
C0005938 (UMLS CUI [1,4])
Elig.phs000390.v1.p1.22
Item
Any disease, treatment (e.g., bisphosphonates, evista and teraparatide), or condition that would be an apparent non-genetic cause for BMD variation.
boolean
C0012634 (UMLS CUI [1,1])
C0087111 (UMLS CUI [1,2])
C0348080 (UMLS CUI [1,3])
C0005938 (UMLS CUI [1,4])
C0443172 (UMLS CUI [1,5])

Gebruik dit formulier voor feedback, vragen en verbeteringsvoorstellen.

Velden gemarkeerd met een * zijn verplicht.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial