ID

45090

Descripción

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

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000390

Palabras clave

Versiones (2)
  1. 20/8/22 20/8/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

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

Subido en

20 de agosto de 2022

DOI

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Licencia

Creative Commons BY 4.0
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dbGaP phs000390 Genomic Wide Scans for Female Osteoporosis Genes

Inglés

Eligibility Criteria

5 formularios  
Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

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

Elig.phs000390.v1.p1.1

Tipo de datos

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:
Descripción

Elig.phs000390.v1.p1.2

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.3

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.4

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.5

Tipo de datos

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:
Descripción

Elig.phs000390.v1.p1.6

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.7

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.8

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.9

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.10

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.11

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.12

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.13

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.14

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.15

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.16

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.17

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.18

Tipo de datos

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;
Descripción

Elig.phs000390.v1.p1.19

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.20

Tipo de datos

boolean

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

Elig.phs000390.v1.p1.21

Tipo de datos

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.
Descripción

Elig.phs000390.v1.p1.22

Tipo de datos

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
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Similar models

Eligibility Criteria

5 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
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])
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