Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.

The detected PKD2 variant is absent from the GnomAD and ClinVar databases, but we found its association with CKD highly significant (OR > 1000, p = 3.7 × 10 −15 ).

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Genes associated with kidney function (eGFRcrea, eGFRcys, urea) We compiled a list of 32 genes that were significantly associated with eGFRcrea or eGFRcys either via GBT or ExWAS analyses, and which showed a direction-consistent and at least nominally significant ( p < 0.05) association with the respective other GFR estimate, along with a direction consistent association with urea and CKD (Table 1 ; Supplementary Data 2 ).

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Again, variants that did not reach statistical significance had p -values closely above the threshold (median: 1.4 × 10 −6 ; IQR: 1.0 × 10 −8 −2.3 × 10 −6 ), and the correlation coefficient of the GBT effect estimates obtained from imputed and from fully sequenced data was 0.999 (Fig. 4d , Supplementary Data 3 ).

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