. 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 4: Single Variants Associated with Dose- Normalized Tacrolimus Troughs, identified in African American Kidney Transplant Recipients (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 exon number out of the total number of exon in that gene, the intron number out of the total number in that gene, Existing known variants’ rs number 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, AA = Allele Frequency from in African American population from Lung and Blood Institute-Exome Sequencing Project (NHLBI-ESP), EA = Allele Frequency in European American population from NHLBI-ESP. Also shown are the related test p-values for association with Tac troughs.

Location	Allele	Consequence	Symbol	Exon	Intron	Existing_variation	Allele frequencies								Pvalb¹	Pvalc²
Location	Allele	Consequence	Symbol	Exon	Intron	Existing_variation	AF	AFR	AMR	EAS	EUR	SAS	AA	EA	Pvalb¹	Pvalc²
7:75552252-75552252	A	intron_variant	POR	-	1/14	-	-	-	-	-	-	-	-	-	0.001	0.002
7:75558027-75558037	C	intron_variant	POR	-	1/14	rs66811056	-	-	-	-	-	-	-	-	0.001	0.002
7:75573951-75573956	GTGTTTGTT	intron_variant	POR	-	1/14	rs67675959	0.26	0.52	0.24	0.25	0.09	0.10	-	-	0.001	0.002
7:75576956-75576956	T	intron_variant	POR	-	1/14	rs239955	0.26	0.52	0.24	0.25	0.09	0.10	-	-	0.001	0.002
7:75565740-75565740	A	intron_variant	POR	-	1/14	rs239960	0.25	0.49	0.24	0.25	0.09	0.10	-	-	0.002	0.003
11:7710178-7710178	T	downstream_gene_variant	OVCH2	-	-	rs4501973	0.46	0.18	0.57	0.58	0.61	0.49	-	-	0.002	0.001
11:7711872-7711872	C	downstream_gene_variant	OVCH2	-	-	rs10839842	0.47	0.18	0.57	0.59	0.62	0.50	-	-	0.002	0.001
11:7712471-7712471	T	stop_gained	OVCH2	15/15	-	rs4509745	0.48	0.23	0.58	0.59	0.62	0.49	0.31	0.62	0.002	0.001
1:202931839-202931839	A	upstream_gene_variant	ADIPOR1	-	-	rs2232854	0.31	0.18	0.40	0.43	0.35	0.28	0.23	0.34	0.002	0.002
7:75544455-75544455	C	upstream_gene_variant	POR	-	-	rs3823884	0.48	0.94	0.42	0.27	0.27	0.35	-	-	0.002	0.004
11:7687305-7687305	T	intron_variant	CYB5R2	-	8/8	rs12794507	0.26	0.44	0.18	0.14	0.25	0.22	-	-	0.003	0.001
7:75586536-75586536	C	intron_variant	POR	-	2/14	rs4728533	0.73	0.48	0.76	0.74	0.91	0.84	-	-	0.003	0.003
7:75563682-75563682	G	intron_variant	POR	-	1/14	rs12533235	0.26	0.52	0.24	0.25	0.09	0.10	-	-	0.003	0.004
11:7687517-7687517	C	intron_variant	CYB5R2	-	8/8	rs11041523	0.49	0.30	0.49	0.68	0.51	0.53	-	-	0.004	0.004
11:7686602-7686606	TGTTTGTT	stop_retained_variant,3_prime_UTR_variant	CYB5R2	9/9	-	rs536512597,rs16411	0.47	0.26	0.49	0.64	0.51	0.53	0.28	0.51	0.004	0.004

-Tac troughs were adjusted in the extreme phenotype model for clinical variables and genotypes CYP3A5*3, CYP3A5*6, and CYP3A5*7.

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