Table 2.
Associations for the top SNPs from ExWAS discovery, replication and combined meta-analyses, including Europeans and Europeans + Greenlanders, for albuminuria
| SNP characteristics | Discovery n = 13,226 |
Replication n = 20,759 |
Combined (Eur) n = 33,985 |
Combined (Eur–GL) n = 36,590 |
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNP (rsID)a | Gene | Chr (BP) | Anno | EA/OA | EAF (%) |
β | SE | p discovery | EAF (%) |
n | β/DOE | p replication | n | p Eur | n | p Eur–GL | p het |
| rs141640975 | CUBN | 10 (16992011) | missense (A1690V) | A/G | 0. 8 | 0.266 | 0.061 | 1.2 × 10−5 | 0. 8 | 9742 | 0.279 | 2.9 × 10−7 | 22,866 | 1.3 × 10−11 | – | – | – |
| rs10947789 | KCNK5 | 6 (39174922) | Intronic | C/T | 23 | 0.054 | 0.012 | 1.6 × 10−5 | 24 | 20,759 | + | 0.03 | 33,985 | 1.5 × 10−5 | 36,590 | 9.1 × 10−6 | 0.84 |
| rs140177498 | LMX1B | 9 (129372974) | Upstream | T/C | 0.9 | 0.260 | 0.058 | 8.7 × 10−6 | 1.1 | 13,233 | + | 0.43 | – | – | – | – | – |
SNPs with pEur/Eur–GL < 5.0 × 10−8 are novel
Discovery set is based on up to 13,226 individuals (3896 with and 9330 without diabetes)
EAF (Greenlanders, rs10947789) = 45%
EAF values are in %
β values correspond to natural log transformed albuminuria levels (ACR in mg/mmol or AER in mg/24 h)
p values are for association
aSNPs were selected for replication based on pdiscovery < 5.0 × 10−5
Anno, SNP annotation; BP, SNP position in base pairs from the Genome Reference Consortium Human Build 37 (GRCh37) in dbSNP; Chr, chromosome; DOE, direction of effect corresponding to the association summary meta-analysis based on z scores for the respective SNP; EA/OA, effect allele/other allele; ID, identity