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.
Pvalb: Logistic regression with permutation applied to calculate p-value in the case-control trait test.
Pvalc: Linear regression applied to obtain p-values in the continuous trait test