Table 3.
CKD Risk-Associated Locus | Location (Chromosome) | Position | Genes within ±250 kb | CRATs Correlating with eGFR in T and G Samples | Position of the SNP Relative to Each Correlating CRAT | No. of Total Correlating CRATs (P<0.05) |
---|---|---|---|---|---|---|
rs267734 | 1 | 150951477 | CTSSb,e | CTSS (T and G)f | Upstream | 8 |
CTSKb,e | CTSK (Tf and G) | Upstream | ||||
ARNTb,e | CERS2 (T)f | Upstream | ||||
SETDB1b,e | ANXA9 (Tf and G) | Downstream | ||||
CERS2a,e | PRUNE (Tf) | Downstream | ||||
ANXA9a,e | MLLT11 (T) | Downstream | ||||
FAM63Aa,e | CDC42SE1 (T) | Downstream | ||||
PRUNEa,e | PIP5K1A (T)f | Downstream | ||||
MLLT11b,e | ||||||
BNIPLc | ||||||
C1orf56b,e | ||||||
GABPB2b | ||||||
SEMA6Cb,e | ||||||
CDC42SE1a,e | ||||||
LYSMD1b | ||||||
SCNM1b,e | ||||||
TMOD4c | ||||||
VPS72a,e | ||||||
PIP5K1Aa,e | ||||||
TNFAIP8L2c,e | ||||||
rs1933182 | 1 | 109999588 | SARSa,e | PSRC1 (G) | Upstream | 4 |
CELSR2b,e | SORT1 (T and G) | Upstream | ||||
PSRCc,e | GNAI3 (Tf) | Downstream | ||||
MYBPHLc | GSTM4 (Tf) | Downstream | ||||
SORT1a,e | ||||||
PSMA5a,e | ||||||
SYPL2a | ||||||
ATXN7L2b | ||||||
CYB561D1b | ||||||
AMIGO1b | ||||||
GPR61c | ||||||
GNAI3a,e | ||||||
AMPD2b,e | ||||||
GSTM2a,e | ||||||
GSTM4a,e | ||||||
GSTM1a,e | ||||||
GNAT2c,e | ||||||
rs12124078 | 1 | 15869899 | FHAD1c | EFHD2 (G) | Upstream | 8 |
EFHD2a,e | CELA2A (T) | Upstream | ||||
CTRCd,e | CELA2B (T) | Upstream | ||||
CELA2Ad,e | CASP9 (Tf and G) | Upstream | ||||
CELA2Bc,e | DNAJC16 (Tf) | Intronic | ||||
CASP9a,e | AGMAT (Tf and G) | Downstream | ||||
DNAJC16a,e | DDI2 (Tf) | Downstream | ||||
AGMATa,e | RSC1A1 (Tf) | Downstream | ||||
DDI2b,e | ||||||
RSC1A1b,e | ||||||
SLC25A34b | ||||||
TMEM82a | ||||||
FBLIM1a | ||||||
rs16864170 | 2 | 5907880 | SOX11c,e | SOX11 (Tf) | Upstream | 1 |
rs6431731 | 2 | 15863002 | DDX1a,e | DDX1 (T) | Upstream | 2 |
MYCNb,e | MYCN (Tf and G) | Downstream | ||||
rs10206899 | 2 | 73900900 | ALMS1b,e | NAT8 (Tf) | Upstream | 2 |
NAT8a,e | NAT8B (Tf) | Downstream | ||||
NAT8Ba,e | ||||||
TPRKBa,e | ||||||
DUSP11a,e | ||||||
C2orf78c | ||||||
STAMBPb,e | ||||||
ACTG2c,e | ||||||
rs7583877 | 2 | 100460654 | AFF3c,e | AFF3 (Tf) | Intronic | 1 |
rs347685 | 3 | 141807137 | ATP1B3a,e | TFDP2 (Tf) | Intronic | 1 |
TFDP2b,e | ||||||
GK5b | ||||||
XRN1b | ||||||
rs17319721 | 4 | 77368847 | SCARB2a,e | FAM47E (Tf and Gf) | Upstream | 2 |
rs13146355 | 77412140 | FAM47Eb,e | STBD1 (Tf and Gf) | Upstream | ||
STBD1b,e | ||||||
CCDC158c | ||||||
SHROOM3b | ||||||
rs6420094 | 5 | 176817636 | NSD1b,e | NSD1 (Tf) | Upstream | 7 |
RAB24a | SLC34A1 (Tf and G) | Intronic | ||||
PRELID1a | F12 (G) | Downstream | ||||
MXD3c,e | GRK6 (Tf) | Downstream | ||||
LMAN2a,e | DBN1 (T) | Downstream | ||||
RGS14a,e | PDLIM7 (T) | Downstream | ||||
SLC34A1a,e | FAM193B (Tf) | Downstream | ||||
PFN3b | ||||||
F12b,e | ||||||
GRK6b,e | ||||||
PRR7c,e | ||||||
DBN1a,e | ||||||
PDLIM7a,e | ||||||
DOK3c,e | ||||||
DDX41a,e | ||||||
FAM193Bb,e | ||||||
TMED9a,e | ||||||
B4GALT7a,e | ||||||
rs11959928 | 5 | 39397132 | FYBb,e | FYB (Tf and Gf) | Upstream | 2 |
C9c,e | DAB2 (Tf) | Intronic | ||||
DAB2a,e | ||||||
rs881858 | 6 | 43806609 | POLHb,e | VEGFA (Tf and G) | Upstream | 1 |
GTPBP2a,e | ||||||
MAD2L1BPa,e | ||||||
RSPH9c | ||||||
MRPS18Aa,e | ||||||
VEGFAa,e | ||||||
C6orf223c | ||||||
rs2279463 | 6 | 160668389 | IGF2Ra,e | IGF2R (Tf) | Upstream | 4 |
SLC22A1c,e | SLC22A1 (Tf) | Upstream | ||||
SLC22A2a,e | SLC22A2 (Tf) | Intronic | ||||
SLC22A3b,e | SLC22A3 (G) | Downstream | ||||
rs3828890 | 6 | 31440669 | HLA-Ca,e | HLA-C (G) | Upstream | 8 |
HLA-Ba,e | MICB (Tf and G) | Downstream | ||||
MICAb,e | LST1 (Tf and G) | Downstream | ||||
MICBc,e | NCR3 (Tf) | Downstream | ||||
DDX39Ba,e | AIF1 (Tf) | Downstream | ||||
ATP6V1G2b,e | BAG6 (Tf) | Downstream | ||||
LTAc,e | APOM (Tf) | Downstream | ||||
NFKBIL1a,e | LTB (Tf and Gf) | Downstream | ||||
LST1b,e | ||||||
NCR3c,e | ||||||
AIF1a,e | ||||||
PRRC2Aa,e | ||||||
BAG6a,e | ||||||
C6orf47a,e | ||||||
GPANK1b | ||||||
CSNK2Ba,e | ||||||
LY6G5Bb | ||||||
ABHD16Aa | ||||||
LY6G5Cb,e | ||||||
APOMa,e | ||||||
LY6G6Fd | ||||||
LY6G6Cc,e | ||||||
DDAH2a,e | ||||||
C6orf25c,e | ||||||
LTBb,e | ||||||
TNFc,e | ||||||
rs6465825 | 7 | 77416439 | PTPN12a,e | PTPN12 (T) | Upstream | 3 |
RSBN1Lb | PHTF2 (Tf) | Downstream | ||||
TMEM60a | MAGI2 (G) | Downstream | ||||
PHTF2b,e | ||||||
MAGI2b,e | ||||||
rs7805747 | 7 | 151407801 | RHEBa,e | 0 | ||
PRKAG2a,e | ||||||
rs10277115 | 7 | 1285195 | C7orf50a | GPER (Tf) | Upstream | 2 |
GPR146b | MICALL2 (Gf) | Downstream | ||||
GPERb,e | ||||||
ZFAND2Aa | ||||||
UNCXc | ||||||
MICALL2b,e | ||||||
INTS1a,e | ||||||
rs1617640 | 7 | 100317298 | TSC22D4a,e | LRCH4 (Tf and G) | Upstream | 4 |
NYAP1c | PCOLCE (G) | Upstream | ||||
AGFG2b,e | SLC12A9 (T) | Downstream | ||||
SAP25b,e | TRIP6 (Tf) | Downstream | ||||
LRCH4a,e | ||||||
FBXO24c,e | ||||||
PCOLCEb,e | ||||||
MOSPD3a,e | ||||||
TFR2c,e | ||||||
ACTL6Bd,e | ||||||
GNB2a,e | ||||||
GIGYF1b | ||||||
POP7a,e | ||||||
EPOb,e | ||||||
ZANd | ||||||
EPHB4a,e | ||||||
SLC12A9a,e | ||||||
TRIP6a,e | ||||||
SRRTa,e | ||||||
UFSP1b | ||||||
ACHEc,e | ||||||
rs10109414 | 8 | 23751151 | NKX3-1c,e | STC1 (Tf) | Upstream | 1 |
rs1731274 | 23766319 | NKX2-6d | ||||
STC1a,e | ||||||
rs4744712 | 9 | 71434707 | PIP5K1Bb,e | 0 | ||
FAM122Ab | ||||||
PRKACGd,e | ||||||
FXNb,e | ||||||
rs10794720 | 10 | 1156165 | LARP4Bb,e | LARPB4 (Tf) | Upstream | 2 |
GTPBP4a,e | IDI1 (T) | Upstream | ||||
IDI2b,e | ||||||
IDI1a,e | ||||||
WDR37b,e | ||||||
ADARB2c,e | ||||||
rs4014195 | 11 | 65506822 | SCYL1a | LTBP3 (Tf) | Upstream | 11 |
LTBP3a,e | FAM89B (Tf) | Upstream | ||||
SSSCA1a,e | EHBP1L1 (Tf and Gf) | Upstream | ||||
FAM89Ba,e | SIPA1 (Tf) | Upstream | ||||
EHBP1L1b,e | RELA (T) | Upstream | ||||
KCNK7c,e | CFL1 (T) | Downstream | ||||
MAP3K11a,e | CCDC85B (Tf) | Downstream | ||||
PCNXL3b | FOSL1 (Tf) | Downstream | ||||
SIPA1b,e | CTSW (Tf) | Downstream | ||||
RELAa,e | FIBP (Tf) | Downstream | ||||
KAT5a,e | DRAP1 (G) | Downstream | ||||
RNASEH2Ca | ||||||
AP5B1b | ||||||
OVOL1b,e | ||||||
SNX32c | ||||||
CFL1a,e | ||||||
MUS81a,e | ||||||
EFEMP2a,e | ||||||
CCDC85Ba,e | ||||||
FOSL1b,e | ||||||
CTSWc,e | ||||||
FIBPa,e | ||||||
C11orf68a,e | ||||||
TSGA10IPd | ||||||
SART1a,e | ||||||
DRAP1a,e | ||||||
rs3925584 | 11 | 30760335 | MPPED2b,e | MPPED2 (Tf) | Upstream | 1 |
DCDC5c | ||||||
DCDC1c | ||||||
rs653178 | 12 | 112007756 | CUX2c,e | CUX2 (T) | Upstream | 4 |
FAM109Ab | ATXN2 (Tf) | Intronic | ||||
SH2B3b,e | ACAD10 (Tf) | Downstream | ||||
ATXN2b,e | ALDH2 (Tf) | Downstream | ||||
BRAPb,e | ||||||
ACAD10a,e | ||||||
ALDH2a,e | ||||||
rs10774021 | 12 | 349298 | IQSEC3b,e | SLC6A12 (Tf) | Upstream | 3 |
SLC6A12a,e | SLC6A13 (Tf and G) | Intronic | ||||
SLC6A13a,e | KDM5A (G) | Downstream | ||||
KDM5Ab,e | ||||||
CCDC77b | ||||||
B4GALNT3b | ||||||
rs626277 | 13 | 72347696 | DACH1b,e | DACH1 (T) | Intronic | 1 |
rs491567 | 15 | 53946593 | WDR72a | 0 | ||
rs1394125 | 15 | 76158983 | SNUPNa,e | 0 | ||
IMP3a,e | ||||||
SNX33b | ||||||
CSPG4c,e | ||||||
ODF3L1c | ||||||
UBE2Q2a | ||||||
NRG4c | ||||||
C15orf27c | ||||||
rs2453533 | 15 | 45641225 | DUOX1c,e | DUOX1 (Tf) | Upstream | 4 |
DUOXA2c | SLC28A2 (T) | Upstream | ||||
DUOXA1d | GATM (Tf and G) | Downstream | ||||
SHFc | SLC30A4 (Tf) | Downstream | ||||
SLC28A2b,e | ||||||
GATMa,e | ||||||
SPATA5L1b,e | ||||||
C15orf48b | ||||||
SLC30A4b,e | ||||||
BLOC1S6a | ||||||
rs12437854 | 15 | 94141833 | No gene in <250 kb distance | 0 | ||
rs12917707 | 16 | 20367690 | GP2b,e | GP2 (T and G) | Upstream | 6 |
rs4293393 | 20364588 | UMODa,e | UMOD (Tf and G) | Upstream | ||
rs11864909 | 20400839 | PDILTd | ACSM5 (Tf and G) | Downstream | ||
ACSM5a,e | ACSM2A (Tf) | Downstream | ||||
ACSM2Aa,e | ACSM2B (Tf) | Downstream | ||||
ACSM2Ba,e | ACSM1 (T) | Downstream | ||||
ACSM1c,e | ||||||
rs9895661 | 17 | 59456589 | BCAS3b,e | TBX2 (Tf) | Downstream | 1 |
TBX2a,e | ||||||
C17orf82c | ||||||
TBX4d,e | ||||||
NACA2b,e | ||||||
rs2453580 | 17 | 19438321 | EPN2b,e | EPN2 (T) | Upstream | 4 |
B9D1a,e | MFAP4 (Tf and Gf) | Upstream | ||||
MAPK7b,e | SLC47A1 (Tf) | Intronic | ||||
MFAP4a,e | ALDH3A2 (Tf and G) | Downstream | ||||
RNF112c | ||||||
SLC47A1a,e | ||||||
ALDH3A2a,e | ||||||
ALDH3A1c,e | ||||||
SLC47A2a | ||||||
ULK2b,e | ||||||
rs11078903 | 17 | 37631924 | FBXL20b | ERBB2 (Tf) | Downstream | 1 |
MED1b,e | ||||||
CDK12b,e | ||||||
NEUROD2d,e | ||||||
PPP1R1Bb | ||||||
STARD3a,e | ||||||
PNMTc,e | ||||||
PGAP3a,e | ||||||
ERBB2a,e | ||||||
TCAPc,e | ||||||
rs7208487 | 17 | 37543449 | PLXDC1c,e | PLXDC1 (Tf and G) | Upstream | 1 |
CACNB1c,e | ||||||
ARL5Cd | ||||||
RPL19a,e | ||||||
STAC2b | ||||||
FBXL20b | ||||||
MED1b,e | ||||||
CDK12b,e | ||||||
NEUROD2d,e | ||||||
PPP1R1Bb | ||||||
STARD3a,e | ||||||
rs12460876 | 19 | 33356891 | ANKRD27b,e | SLC7A9 (Tf) | Intronic | 1 |
RGS9BPc | ||||||
NUDT19b,e | ||||||
TDRD12c,e | ||||||
SLC7A9a,e | ||||||
CEP89b | ||||||
C19orf40c,e | ||||||
RHPN2a | ||||||
GPATCH1b,e | ||||||
rs911119 | 20 | 23612737 | NAPBb | CST8 (T) | Upstream | 1 |
rs13038305 | 23610262 | CSTL1d | ||||
CST11c,e | ||||||
CST8c,e | ||||||
CST9Ld | ||||||
CST9c | ||||||
CST3a,e | ||||||
CST4d,e | ||||||
CST1d,e | ||||||
CST2d,e | ||||||
CST5c,e | ||||||
rs6040055 | 20 | 10633313 | MKKSa,e | MKKS (T) | Upstream | 1 |
SLX4IPc | ||||||
JAG1a,e | ||||||
rs4821469 | 22 | 36616445 | APOL3a,e | MYH9 (T) | Downstream | 1 |
APOL4b | ||||||
APOL2a,e | ||||||
APOL1a,e | ||||||
MYH9a,e | ||||||
TXN2a,e |
The table shows the list of genes within the 250-kb region of the CKD-associated SNPs. Baseline expression of the transcripts in human kidneys (by RNA sequencing) are shown. T, tubule; G, glomerular.
High expression.
Medium expression.
Low expression.
No expression.
Genes with available probe set identifications on the microarray chip.
The correlation with eGFR in T and G samples remained significant (P<0.05) after Benjamini-Hochberg multiple testing correction.