ID

45122

Descripción

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.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000333

Palabras clave

Versiones (2)
  1. 10/9/22 10/9/22 - Simon Heim
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Sudha K. Iyengar, PhD, Case Western Reserve University, Cleveland, OH, USA

Subido en

10 de septiembre de 2022

DOI

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Licencia

Creative Commons BY 4.0
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dbGaP phs000333 Family Investigation of Nephropathy and Diabetes (FIND) Study

Inglés

Eligibility Criteria

6 formularios  
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Cases for the GWAS were selected from FIND probands or siblings (see Knowler, et al., PMID: 15642484). The remaining cases, both FIND and non-FIND, were eligible if they had diabetic nephropathy or met one or more of the following criteria:
Descripción

Cases for the GWAS were selected from FIND probands or siblings (see Knowler, et al., PMID: 15642484). The remaining cases, both FIND and non-FIND, were eligible if they had diabetic nephropathy or met one or more of the following criteria:

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0011881
Albumin-to-Creatinine ratio (ACR) ≥ 0.3
Descripción

Albumin-to-Creatinine ratio (ACR) ≥ 0.3

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0455271
Protein-Creatinine ratio (PCR) ≥ 0.5
Descripción

Protein-Creatinine ratio (PCR) ≥ 0.5

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C1318206
Glomerular Filtration Rate (MDRD formula) ≤ 60
Descripción

Glomerular Filtration Rate (MDRD formula) ≤ 60

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0017654
Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females
Descripción

Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0201976
For the GWAS, the above criteria are considered to be the *strict* case inclusion criteria. Additional subjects were included in the GWAS, if they were azotemic and had normal proteinuria, based upon the following *loose* case criteria:
Descripción

For the GWAS, the above criteria are considered to be the *strict* case inclusion criteria. Additional subjects were included in the GWAS, if they were azotemic and had normal proteinuria, based upon the following *loose* case criteria:

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0242528
UMLS CUI [1,4]
C0151432
ACR ≤ 0.03
Descripción

ACR ≤ 0.03

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0455271
GFR ≤ 60
Descripción

GFR ≤ 60

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0017654
Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females
Descripción

Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1706256
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0201976
Controls were selected from the remaining unrelated FIND family members, FIND controls, and contributed non-FIND subjects. All controls were long term (≥10 years) diabetics with healthy kidney function based on one or more of the following criteria:
Descripción

Controls were selected from the remaining unrelated FIND family members, FIND controls, and contributed non-FIND subjects. All controls were long term (≥10 years) diabetics with healthy kidney function based on one or more of the following criteria:

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0443252
UMLS CUI [1,4]
C0011849
UMLS CUI [1,5]
C0232805
ACR ≤ 0.03
Descripción

ACR ≤ 0.03

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0455271
PCR ≤ 0.05
Descripción

PCR ≤ 0.05

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0033684
UMLS CUI [1,4]
C0201792
GFR ≥ 60
Descripción

GFR ≥ 60

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0017654
Serum Creatinine ≤ 1.6 mg/dL for Males, or ≤ 1.4mg/dL for Females
Descripción

Serum Creatinine ≤ 1.6 mg/dL for Males, or ≤ 1.4mg/dL for Females

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0201976
Subjects meeting the above criteria are considered controls based on *strict* control inclusion criteria. Several subjects were allowed inclusion in the GWAS even if one or more of the above values was out of range. If a subject met at least three of the above criteria (or at least one of the above criteria in certain instances), the investigators reviewed the subject for further inclusion in the GWAS. If, based upon a full record review, the investigators determined the subject eligible for inclusion, the subject was allowed inclusion based upon *loose* criteria. Furthermore, all controls subjects, strict and loose, have had diabetes for at least 10 years.
Descripción

Subjects meeting the above criteria are considered controls based on *strict* control inclusion criteria. Several subjects were allowed inclusion in the GWAS even if one or more of the above values was out of range. If a subject met at least three of the above criteria (or at least one of the above criteria in certain instances), the investigators reviewed the subject for further inclusion in the GWAS. If, based upon a full record review, the investigators determined the subject eligible for inclusion, the subject was allowed inclusion based upon *loose* criteria. Furthermore, all controls subjects, strict and loose, have had diabetes for at least 10 years.

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0009932
UMLS CUI [1,2]
C1512693
UMLS CUI [1,3]
C0443252
UMLS CUI [1,4]
C0011849
UMLS CUI [1,5]
C0699752
UMLS CUI [1,6]
C0025102
UMLS CUI [1,7]
C0008961
DNA samples for eligible cases and controls were sent to Affymetrix for sample processing and genotype contrast QC. Bird seed call-rate QC was performed by TGEN. Genotypes with call rates below 95% were re-genotyped and removed from further analysis if problems persisted.
Descripción

DNA samples for eligible cases and controls were sent to Affymetrix for sample processing and genotype contrast QC. Bird seed call-rate QC was performed by TGEN. Genotypes with call rates below 95% were re-genotyped and removed from further analysis if problems persisted.

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0012854
UMLS CUI [1,3]
C0370003
UMLS CUI [1,4]
C1285573
UMLS CUI [1,5]
C0034378
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C3846158
UMLS CUI [2,3]
C0034378
UMLS CUI [2,4]
C0796344
FIND statisticians then applied further QC measures which included sex verification, calculating the proportion of heterozygous genotypes, duplicate sample concordance, and pairwise identity-by-descent (IBD) estimation. Samples with minor errors are listed in the "FIND_QC_ActionsForResolution" files included with this dataset.
Descripción

FIND statisticians then applied further QC measures which included sex verification, calculating the proportion of heterozygous genotypes, duplicate sample concordance, and pairwise identity-by-descent (IBD) estimation. Samples with minor errors are listed in the "FIND_QC_ActionsForResolution" files included with this dataset.

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C2828391
UMLS CUI [1,3]
C0034378
UMLS CUI [1,4]
C4684635
UMLS CUI [1,5]
C3242611
UMLS CUI [1,6]
C0017431
UMLS CUI [1,7]
C0205173
UMLS CUI [1,8]
C4553529
UMLS CUI [1,9]
C0680043
UMLS CUI [2,1]
C1512693
UMLS CUI [2,2]
C0370003
UMLS CUI [2,3]
C0205165
UMLS CUI [2,4]
C1548231
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Similar models

Eligibility Criteria

6 formularios
  1. StudyEvent: SEV1
    1. Eligibility Criteria
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
Cases for the GWAS were selected from FIND probands or siblings (see Knowler, et al., PMID: 15642484). The remaining cases, both FIND and non-FIND, were eligible if they had diabetic nephropathy or met one or more of the following criteria:
Item
Cases for the GWAS were selected from FIND probands or siblings (see Knowler, et al., PMID: 15642484). The remaining cases, both FIND and non-FIND, were eligible if they had diabetic nephropathy or met one or more of the following criteria:
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0011881 (UMLS CUI [1,3])
Albumin-to-Creatinine ratio (ACR) ≥ 0.3
Item
Albumin-to-Creatinine ratio (ACR) ≥ 0.3
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0455271 (UMLS CUI [1,3])
Protein-Creatinine ratio (PCR) ≥ 0.5
Item
Protein-Creatinine ratio (PCR) ≥ 0.5
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C1318206 (UMLS CUI [1,3])
Glomerular Filtration Rate (MDRD formula) ≤ 60
Item
Glomerular Filtration Rate (MDRD formula) ≤ 60
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0017654 (UMLS CUI [1,3])
Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females
Item
Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0201976 (UMLS CUI [1,3])
For the GWAS, the above criteria are considered to be the *strict* case inclusion criteria. Additional subjects were included in the GWAS, if they were azotemic and had normal proteinuria, based upon the following *loose* case criteria:
Item
For the GWAS, the above criteria are considered to be the *strict* case inclusion criteria. Additional subjects were included in the GWAS, if they were azotemic and had normal proteinuria, based upon the following *loose* case criteria:
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0242528 (UMLS CUI [1,3])
C0151432 (UMLS CUI [1,4])
ACR ≤ 0.03
Item
ACR ≤ 0.03
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0455271 (UMLS CUI [1,3])
GFR ≤ 60
Item
GFR ≤ 60
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0017654 (UMLS CUI [1,3])
Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females
Item
Serum Creatinine ≥ 1.6 mg/dL for Males, or ≥ 1.4 mg/dL for Females
boolean
C1706256 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0201976 (UMLS CUI [1,3])
Controls were selected from the remaining unrelated FIND family members, FIND controls, and contributed non-FIND subjects. All controls were long term (≥10 years) diabetics with healthy kidney function based on one or more of the following criteria:
Item
Controls were selected from the remaining unrelated FIND family members, FIND controls, and contributed non-FIND subjects. All controls were long term (≥10 years) diabetics with healthy kidney function based on one or more of the following criteria:
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0443252 (UMLS CUI [1,3])
C0011849 (UMLS CUI [1,4])
C0232805 (UMLS CUI [1,5])
ACR ≤ 0.03
Item
ACR ≤ 0.03
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0455271 (UMLS CUI [1,3])
PCR ≤ 0.05
Item
PCR ≤ 0.05
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0033684 (UMLS CUI [1,3])
C0201792 (UMLS CUI [1,4])
GFR ≥ 60
Item
GFR ≥ 60
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0017654 (UMLS CUI [1,3])
Serum Creatinine ≤ 1.6 mg/dL for Males, or ≤ 1.4mg/dL for Females
Item
Serum Creatinine ≤ 1.6 mg/dL for Males, or ≤ 1.4mg/dL for Females
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0201976 (UMLS CUI [1,3])
Subjects meeting the above criteria are considered controls based on *strict* control inclusion criteria. Several subjects were allowed inclusion in the GWAS even if one or more of the above values was out of range. If a subject met at least three of the above criteria (or at least one of the above criteria in certain instances), the investigators reviewed the subject for further inclusion in the GWAS. If, based upon a full record review, the investigators determined the subject eligible for inclusion, the subject was allowed inclusion based upon *loose* criteria. Furthermore, all controls subjects, strict and loose, have had diabetes for at least 10 years.
Item
Subjects meeting the above criteria are considered controls based on *strict* control inclusion criteria. Several subjects were allowed inclusion in the GWAS even if one or more of the above values was out of range. If a subject met at least three of the above criteria (or at least one of the above criteria in certain instances), the investigators reviewed the subject for further inclusion in the GWAS. If, based upon a full record review, the investigators determined the subject eligible for inclusion, the subject was allowed inclusion based upon *loose* criteria. Furthermore, all controls subjects, strict and loose, have had diabetes for at least 10 years.
boolean
C0009932 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0443252 (UMLS CUI [1,3])
C0011849 (UMLS CUI [1,4])
C0699752 (UMLS CUI [1,5])
C0025102 (UMLS CUI [1,6])
C0008961 (UMLS CUI [1,7])
DNA samples for eligible cases and controls were sent to Affymetrix for sample processing and genotype contrast QC. Bird seed call-rate QC was performed by TGEN. Genotypes with call rates below 95% were re-genotyped and removed from further analysis if problems persisted.
Item
DNA samples for eligible cases and controls were sent to Affymetrix for sample processing and genotype contrast QC. Bird seed call-rate QC was performed by TGEN. Genotypes with call rates below 95% were re-genotyped and removed from further analysis if problems persisted.
boolean
C1512693 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
C0370003 (UMLS CUI [1,3])
C1285573 (UMLS CUI [1,4])
C0034378 (UMLS CUI [1,5])
C1512693 (UMLS CUI [2,1])
C3846158 (UMLS CUI [2,2])
C0034378 (UMLS CUI [2,3])
C0796344 (UMLS CUI [2,4])
FIND statisticians then applied further QC measures which included sex verification, calculating the proportion of heterozygous genotypes, duplicate sample concordance, and pairwise identity-by-descent (IBD) estimation. Samples with minor errors are listed in the "FIND_QC_ActionsForResolution" files included with this dataset.
Item
FIND statisticians then applied further QC measures which included sex verification, calculating the proportion of heterozygous genotypes, duplicate sample concordance, and pairwise identity-by-descent (IBD) estimation. Samples with minor errors are listed in the "FIND_QC_ActionsForResolution" files included with this dataset.
boolean
C1512693 (UMLS CUI [1,1])
C2828391 (UMLS CUI [1,2])
C0034378 (UMLS CUI [1,3])
C4684635 (UMLS CUI [1,4])
C3242611 (UMLS CUI [1,5])
C0017431 (UMLS CUI [1,6])
C0205173 (UMLS CUI [1,7])
C4553529 (UMLS CUI [1,8])
C0680043 (UMLS CUI [1,9])
C1512693 (UMLS CUI [2,1])
C0370003 (UMLS CUI [2,2])
C0205165 (UMLS CUI [2,3])
C1548231 (UMLS CUI [2,4])
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