Table 3.

Genome-wide loci for proteinuria and eGFR meta-analyses

PhenotypeGeneLead SNPChrPosition (b37)Meta P value (q-value) Queried LD SNPTF binding sites Chromatin state Open chromatin§ TF binding motifsǁ eQTLs (NephQTL) 
Proteinuria CRYL1 rs9315599 13 21037608 2.38E-08 (1.20E-03) rs4770035 ZNF449, PRDM1 quiescent/low  FOXA2, FOXI1, ZFP105 GJB2 (TI) 
Proteinuria VWF rs2238104 12 6187665 7.26E-07 (2.33E-02)  ZNF366, ATF2, ZIC2, ZBTB21, CTCF, ZBTB17, ZNF660, PATZ1, ZNF629, WT1, GLIS1, ZIC2, ZNF189, ZFHX2 strong transcription kidney epithelial cells, renal cortical epithelial cells  CHD4 (GL), GAPDH (TI), CD9 (GL) 
Proteinuria ADAMTS7 rs3743057 15 79089007 1.06E-06 (2.77E-02)  REST strong transcription   ANKRD34C (TI), MORF4L1 (TI) 
      rs7182809 SALL2, ZNF571, ZNF311, ZNF662 strong transcription    
eGFR LRP1B rs1968911 141092882 3.07E-07 (5.17E-02) rs12373750    MAFK, RREB1  
eGFR linc02288 rs4903539 14 77532688 1.09E-06 (5.17E-02)   strong transcription HEK293T NFATC1, NR2F1, NR2F6, RARA, RARB, RARG NGB (TI) 
eGFR FPGT-TNNI3K/TNNI3K rs7526762 74993318 1.51E-06 (5.17E-02)       
PhenotypeGeneLead SNPChrPosition (b37)Meta P value (q-value) Queried LD SNPTF binding sites Chromatin state Open chromatin§ TF binding motifsǁ eQTLs (NephQTL) 
Proteinuria CRYL1 rs9315599 13 21037608 2.38E-08 (1.20E-03) rs4770035 ZNF449, PRDM1 quiescent/low  FOXA2, FOXI1, ZFP105 GJB2 (TI) 
Proteinuria VWF rs2238104 12 6187665 7.26E-07 (2.33E-02)  ZNF366, ATF2, ZIC2, ZBTB21, CTCF, ZBTB17, ZNF660, PATZ1, ZNF629, WT1, GLIS1, ZIC2, ZNF189, ZFHX2 strong transcription kidney epithelial cells, renal cortical epithelial cells  CHD4 (GL), GAPDH (TI), CD9 (GL) 
Proteinuria ADAMTS7 rs3743057 15 79089007 1.06E-06 (2.77E-02)  REST strong transcription   ANKRD34C (TI), MORF4L1 (TI) 
      rs7182809 SALL2, ZNF571, ZNF311, ZNF662 strong transcription    
eGFR LRP1B rs1968911 141092882 3.07E-07 (5.17E-02) rs12373750    MAFK, RREB1  
eGFR linc02288 rs4903539 14 77532688 1.09E-06 (5.17E-02)   strong transcription HEK293T NFATC1, NR2F1, NR2F6, RARA, RARB, RARG NGB (TI) 
eGFR FPGT-TNNI3K/TNNI3K rs7526762 74993318 1.51E-06 (5.17E-02)       

Evidence for GWAS locus regulatory function culled from RegulomeDB and eQTLs from NephQTL is listed for either the lead SNP or an identified proxy (queried LD SNP).

GL, glomerulus; TI, tubulointerstitium.

Meta-analysis P value and corresponding FDR q-value for respective GWAS of either proteinuria or eGFR.

TF binding sites in HEK293 cells identified via chromatin immunoprecipitation sequencing.

Chromatin state in kidney via chromatin immunoprecipitation sequencing followed by segmentation using ChromHMM.

§

Open chromatin peaks identified via formaldehyde-assisted isolation of regulatory elements (FAIRE)-sequencing and DNase sequencing.

ǁ

TF binding motifs as determined using positional weight matrixes.

eQTLs from NephQTL in GL and kidney TI.

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