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])