Skip to main content
. Author manuscript; available in PMC: 2019 Jul 24.
Published in final edited form as: Pharmacogenomics J. 2018 Nov 16;19(4):375–389. doi: 10.1038/s41397-018-0063-z

Table 5: Single Variants Associated with Tacrolimus Adjusted Troughs, Identified in European American Kidney Transplant Recipients of (p<0.005).

The table indicates the chromosome location of the variants based on GRCH37 assembly, the variant alternate allele, the consequence effect of the variant on the Ensembl transcripts, the gene symbol, the intron number out of the total number in the gene, Existing known variants’ rs numbers if available and the allele frequencies from 1000 Genomes project as given by VEP software. AF = global, AFR = African population, AMR = American population, EUR = European population, EAS = East Asian population, SAS = South Asian population. Also shown are the related test p-values for association with Tac troughs.

Location Allele Consequence Symbol Intron Existing_variation Allele frequencies Pvalb1 Pvalc2
AF AFR AMR EAS EUR SAS
4:146068652-146068652 T intron_variant OTUD4 13/20 rs12502109 0.31 0.37 0.31 0.47 0.13 0.26 0.001 0.002
20:43074372-43074372 C downstream_gene_variant 14kb 3’ of HNF4A - rs1321826 0.16 0.32 0.16 0.03 0.11 0.15 0.002 0.004
20:43075161-43075161 A downstream_gene_variant 14kb 3’ of HNF4A - rs7272694 0.16 0.32 0.16 0.03 0.11 0.15 0.002 0.004
20:43075280-43075280 C downstream_gene_variant 15kb 3’ of HNF4A - rs7267639 0.16 0.32 0.16 0.03 0.11 0.15 0.002 0.004
5:142803548-142803548 G intron_variant NR3C1 1/8 rs72802815 0.25 0.23 0.42 0.10 0.34 0.23 0.005 0.004
16:16203559-16203559 T intron_variant ABCC1 21/29 rs35090860 0.21 0.06 0.14 0.40 0.21 0.25 0.005 0.003
16:16208172-16208172 T intron_variant ABCC1 22/29 rs45443999 0.20 0.04 0.14 0.40 0.19 0.25 0.005 0.003
16:16208173-16208173 C intron_variant ABCC1 22/29 rs45624535 0.20 0.04 0.14 0.40 0.19 0.25 0.005 0.003
4:146001613-146001613 T intron_variant ANAPC10 3/4 rs35098431 0.35 0.51 0.32 0.47 0.13 0.26 0.005 0.004

-Tac troughs were adjusted in the extreme phenotype model for clinical variables and genotypes CYP3A5*3 and CYP3A4*22.

1

Pvalb: Logistic regression with permutation applied to calculate p-value in the case-control trait test.

2

Pvalc: Linear regression applied to obtain p-values in the continuous trait test