Table 1.
Novel rare missense variants in SLC22A12 associated with serum urate in the primary single-variant meta-analysis combining EA and AA individuals
| Serum urate | Gout | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Amino acid positiona | Alt/ref allele | Alt. allele count | Betab | SE | P-value | N | Alt allele count | OR | Beta | SE | P-value | N |
| rs150255373 | R325W | T/C | 34 | −1.11 | 0.17 | 1.3E-10 | 15,522 | 12 | 0.30 | −1.20 | 1.04 | 2.5E-01 | 6762 |
| rs147647315 | R434H | A/G | 77 | −0.74 | 0.12 | 1.1E-10 | 13,326 | 26 | 1.04 | 0.04 | 0.52 | 9.4E-01 | 4959 |
rs150255373 (at 64366298, b37) is exclusive to EA, and rs147647315 (at 64367854, b37) has 70 of 77 copies in AA and has been linked to hypouricemia in HGMD (accession number: CM1110340). The association between rs14764315 and serum urate in AA is reported in Supplementary Data 9. The directions of association of these two variants were consistent across cohorts. rs150255373 beta: ARIC EA (-1.29), CHS (-0.91), FHS (-1.12), RS (-0.54), CoLaus (-0.97), not detected in ARIC AA, ERF, and CILENTO. rs147647315 beta: ARIC EA (-0.98), ARIC AA (-0.71), CHS (-1.60), FHS (-0.72), not detected in RS, ERF, CoLaus, and CILENTO
Alt alternate, ref reference, SE standard error, EA European ancestry, AA African-American
aAmino acid positions are based on the canonical form in UNIPROT (ENSP00000366797)
bBeta is in the unit of one SD of inverse normal transformed serum urate, which is ~1.5 mg/dL