Information:
Fel:
ID
45150
Beskrivning
Principal Investigator: Sudha K. Iyengar, PhD, Case Western Reserve University, Cleveland, OH, USA MeSH: Diabetes Mellitus,Kidney Diseases,Diabetic Nephropathies https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000333 The Family Investigation of Nephropathy and Diabetes (FIND) is a multicenter study designed to identify genetic determinants of diabetic kidney disease. Study subjects were recruited from eleven centers and in many ethnic groups throughout the United States. A genome-wide association study (GWAS) was conducted with the Affymetrix 6.0 chip. Subjects (index cases) with diabetes and kidney disease were initially recruited, and their parents and siblings were invited to participate. Genetic material from these participants was used to genotype markers throughout the genome. For association-based testing, a case-control design was implemented with study subjects selected primarily from the index cases of the families. Unrelated controls were selected from families where a case was not already selected. Several study sites also contributed non-FIND subjects, both cases and controls (consent forms for the release of FIND and non-FIND subjects/samples are included in this dbGaP release). Cases were selected if they met study criteria for diabetic nephropathy or met inclusion criteria based on elevated serum creatinine levels and abnormal urine protein excretion. Similarly, controls were long-term diabetics with otherwise normal kidney function. See inclusion/exclusion criteria section for a detailed description for the FIND study as a whole and this GWAS. The goal of the FIND study is to identify genes that influence susceptibility to diabetic kidney disease, leading to a better understanding of how kidney disease develops. In the long run, this may lead to improved treatment and prevention of diabetic kidney disease.
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Nyckelord
Versioner (2)
- 2022-09-10 2022-09-10 - Simon Heim
- 2022-10-12 2022-10-12 - Adrian Schulz
Rättsinnehavare
Sudha K. Iyengar, PhD, Case Western Reserve University, Cleveland, OH, USA
Uppladdad den
12 oktober 2022
DOI
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Licens
Creative Commons BY 4.0
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dbGaP phs000333 Family Investigation of Nephropathy and Diabetes (FIND) Study
Sociodemographic data including sex, race, age, and subject ID, medical history of participant's laboratory tests including creatinine ratio, glomerular filtration rate, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, laboratory tests of albumin-to-creatinine ratio, glomerular filtration rate, hemoglobin A1c, protein-to-creatinine ratio, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, health status including diabetes, high blood pressure, kidney failure, leg amputation, retinopathy, anthropometry, and ACE inhibitors or insulin administration of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Subject ID, family ID, father and mother IDs, and sex of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Sample ID and subject ID of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Sociodemographic data including sex, race, age, and subject ID, medical history of participant's laboratory tests including creatinine ratio, glomerular filtration rate, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, laboratory tests of albumin-to-creatinine ratio, glomerular filtration rate, hemoglobin A1c, protein-to-creatinine ratio, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, health status including diabetes, high blood pressure, kidney failure, leg amputation, retinopathy, anthropometry, and ACE inhibitors or insulin administration of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Sample ID, tumor status, body site where from sample was collected, histological type of samples where from DNA was extracted obtained from participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
Similar models
Sociodemographic data including sex, race, age, and subject ID, medical history of participant's laboratory tests including creatinine ratio, glomerular filtration rate, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, laboratory tests of albumin-to-creatinine ratio, glomerular filtration rate, hemoglobin A1c, protein-to-creatinine ratio, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, health status including diabetes, high blood pressure, kidney failure, leg amputation, retinopathy, anthropometry, and ACE inhibitors or insulin administration of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Subject ID, family ID, father and mother IDs, and sex of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Sample ID and subject ID of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Sociodemographic data including sex, race, age, and subject ID, medical history of participant's laboratory tests including creatinine ratio, glomerular filtration rate, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, laboratory tests of albumin-to-creatinine ratio, glomerular filtration rate, hemoglobin A1c, protein-to-creatinine ratio, serum creatinine, urine albumin excretion, urine creatinine excretion, urine protein excretion, health status including diabetes, high blood pressure, kidney failure, leg amputation, retinopathy, anthropometry, and ACE inhibitors or insulin administration of participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
- Sample ID, tumor status, body site where from sample was collected, histological type of samples where from DNA was extracted obtained from participants involved in the Family Investigation of Nephropathy and Diabetes [FIND] project and affected or not affected with diabetic kidney disease.
Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
SubjectId
Item
De-identified subject ID
string
C2346787 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
C2348585 (UMLS CUI [1,2])
CL Item
Male (1)
CL Item
Female (2)
CL Item
Missing/DummyId (NA)
CL Item
African American (AA)
CL Item
European American (EA)
CL Item
Mexican American (MA)
Age
Item
Age at enrollment
text
C5236162 (UMLS CUI [1,1])
DiabeticNephropathy
Item
Diagnosed with diabetic nephropathy
text
C0011881 (UMLS CUI [1,1])
Diabetes
Item
Diagnosed with diabetes
text
C0011849 (UMLS CUI [1,1])
Diabetes_Duration
Item
Age of diabetes diagnosis
text
C1828181 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0011849 (UMLS CUI [1,2])
Diabetes_AgeOnset
Item
Duration of diabetes
text
C0449238 (UMLS CUI [1,1])
C0011849 (UMLS CUI [1,2])
C0011849 (UMLS CUI [1,2])
Retinopathy
Item
Retinopathy in either eye?
text
C0011884 (UMLS CUI [1,1])
KidneyHistology
Item
Histological findings in kidneys
text
C0449575 (UMLS CUI [1,1])
C0022646 (UMLS CUI [1,2])
C0022646 (UMLS CUI [1,2])
KidneyFailure
Item
Kidney failure requiring dialysis or transplant?
text
C0035078 (UMLS CUI [1,1])
C1514873 (UMLS CUI [1,2])
C0011946 (UMLS CUI [1,3])
C0022671 (UMLS CUI [1,4])
C1514873 (UMLS CUI [1,2])
C0011946 (UMLS CUI [1,3])
C0022671 (UMLS CUI [1,4])
KidneyFailure_AgeOnset
Item
Age of kidney failure
text
C0001779 (UMLS CUI [1,1])
C0035078 (UMLS CUI [1,2])
C0035078 (UMLS CUI [1,2])
KidneyFailure_Duration
Item
Duration of kidney failure
text
C0449238 (UMLS CUI [1,1])
C0035078 (UMLS CUI [1,2])
C0035078 (UMLS CUI [1,2])
Historic_UrineProteinExcretion
Item
Historic protein excretion in urine
text
C0679831 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
C0033687 (UMLS CUI [1,2])
Historic_SerumCreatinine
Item
Historic serum creatinine
text
C0679831 (UMLS CUI [1,1])
C0201976 (UMLS CUI [1,2])
C0201976 (UMLS CUI [1,2])
Historic_UrineProtein
Item
Historic urine protein excretion
text
C0679831 (UMLS CUI [1,1])
C0033687 (UMLS CUI [1,2])
C0033687 (UMLS CUI [1,2])
Historic_UrineAlbuminSign
Item
For values that fall below the threshold of detection
text
C0443151 (UMLS CUI [1,1])
Historic_UrineAlbumin
Item
Historic urine albumin excretion
text
C0679831 (UMLS CUI [1,1])
C0001925 (UMLS CUI [1,2])
C0001925 (UMLS CUI [1,2])
Historic_UrineCreatinine
Item
Historic urine creatinine excretion
text
C0679831 (UMLS CUI [1,1])
C0428287 (UMLS CUI [1,2])
C0428287 (UMLS CUI [1,2])
Historic_PCR
Item
Historic urine protein: creatinine ratio
text
C0679831 (UMLS CUI [1,1])
C1096054 (UMLS CUI [1,2])
C1096054 (UMLS CUI [1,2])
Historic_ACR
Item
Historic urine albumin: creatinine ratio
text
C0679831 (UMLS CUI [1,1])
C0455271 (UMLS CUI [1,2])
C0455271 (UMLS CUI [1,2])
Historic_GFR
Item
Historic (estimated) glomerular filtration rate
text
C0679831 (UMLS CUI [1,1])
C3811844 (UMLS CUI [1,2])
C3811844 (UMLS CUI [1,2])
Lab_SerumCreatinine
Item
Lab serum creatinine
text
C0201976 (UMLS CUI [1,1])
Lab_UrineProtein
Item
Lab urine protein excretion
text
C0033687 (UMLS CUI [1,1])
Lab_UrineAlbumin
Item
Lab urine albumin excretion
text
C0001925 (UMLS CUI [1,1])
Lab_UrineCreatinine
Item
Lab urine creatinine excretion
text
C3899489 (UMLS CUI [1,1])
Lab_PCR
Item
Lab protein-to-creatinine ratio
text
C0428627 (UMLS CUI [1,1])
Lab_ACR
Item
Lab albumin-to-creatinine ratio
text
C0486293 (UMLS CUI [1,1])
Lab_GFR
Item
Lab estimated glomerular filtration rate
text
C3811844 (UMLS CUI [1,1])
Lab_HbA1c
Item
Lab hemoglobin A1c, measured as part of study protocol
text
C0474680 (UMLS CUI [1,1])
CurrentHeight
Item
Height at enrollment
text
C0489786 (UMLS CUI [1,1])
CurrentWeight
Item
Weight at enrollment
text
C0005612 (UMLS CUI [1,1])
AgeMaxWeight
Item
Age when at maximum weight
text
C0001779 (UMLS CUI [1,1])
C0806909 (UMLS CUI [1,2])
C0005910 (UMLS CUI [1,3])
C0806909 (UMLS CUI [1,2])
C0005910 (UMLS CUI [1,3])
HeightMaxWeight
Item
Height when at maximum weight
text
C0005890 (UMLS CUI [1,1])
C0806909 (UMLS CUI [1,2])
C0005910 (UMLS CUI [1,3])
C0806909 (UMLS CUI [1,2])
C0005910 (UMLS CUI [1,3])
MaxWeight
Item
Maximum weight
text
C0806909 (UMLS CUI [1,1])
C0005910 (UMLS CUI [1,2])
C0005910 (UMLS CUI [1,2])
Amputation
Item
Did either leg need amputation?
text
C0337308 (UMLS CUI [1,1])
LegAmputatedLeft
Item
Left leg amputated?
text
C0337308 (UMLS CUI [1,1])
C0205091 (UMLS CUI [1,2])
C0205091 (UMLS CUI [1,2])
LegAmputatedRight
Item
Right leg amputated?
text
C0337308 (UMLS CUI [1,1])
C0205090 (UMLS CUI [1,2])
C0205090 (UMLS CUI [1,2])
HBP
Item
High blood pressure
text
C0020538 (UMLS CUI [1,1])
HBP_Duration
Item
Duration of high blood pressure
text
C0020538 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0449238 (UMLS CUI [1,2])
ACE_ARBs
Item
Taking ACE inhibitors or ARBS?
text
C1512806 (UMLS CUI [1,1])
C0521942 (UMLS CUI [1,2])
C0003015 (UMLS CUI [1,3])
C0521942 (UMLS CUI [1,2])
C0003015 (UMLS CUI [1,3])
Insulin
Item
Taking insulin?
text
C1512806 (UMLS CUI [1,1])
C0021641 (UMLS CUI [1,2])
C0021641 (UMLS CUI [1,2])