Table 2 Ancestry-enriched pharmacogenomic variant associations

From: The Consortium for Genomic Diversity, Ancestry, and Health in Colombia (CÓDIGO): building local capacity in genomics and bioinformatics

Gene

Chr.

Position

rsIDa

Pharmacogenomic Effectb

Evidence levelc

Allele countd

Fisher’s P-valuee

FSTf

Ancestry enrichmentg

CYP3A4

7

99767460

rs4646437

Tacrolimus metabolism

2A

2406

1.28E−82

0.194

AFR

KIF6

6

39357302

rs20455

Pravastatin metabolism

2B

1058

6.83E−33

0.139

AFR

CHRNA5

15

78590583

rs16969968

Nicotine dependence

2B

2544

8.82E−21

0.035

EUR

VKORC1

16

31093557

rs9934438

Warfarin metabolism

1B

2552

1.69E−18

0.032

AME

MTHFR

1

11796321

rs1801133

Methotrexate toxicity

2A

2574

2.18E−18

0.032

AME

CYP4F2

19

15879621

rs2108622

Warfarin metabolism

1A

2628

1.34E−13

0.023

EUR

VKORC1

16

31092475

rs2359612

Warfarin metabolism

1B

2428

1.66E−13

0.026

AFR

XRCC1

19

43551574

rs25487

Platinum-based medication metabolism

2B

1326

1.60E−12

0.041

AFR

VKORC1

16

31096368

rs9923231

Warfarin metabolism

1A

1918

4.69E−11

0.024

EUR

CYP2B6

19

41012316

rs28399499

Antiretroviral metabolism

2A

2512

2.37E−10

0.028

AFR

MSRB1P1

19

39252525

rs8099917

PEG-IFN alpha metabolism

1B

1762

3.14E−10

0.025

ADX1

SLCO1B1

12

21178615

rs4149056

Simvastatin toxicity

1A

2512

4.91E−08

0.013

EUR

  1. aSingle nucleotide polymorphism (SNP) identifier from the NCBI dbSNP database.
  2. bDrug and effect mode for each pharmacogenomic association.
  3. cPharmGKB database evidence level.
  4. dTotal number of alleles used for Fisher’s exact test.
  5. eP-value for 2 × 5 Fisher’s exact test; 2 allele types (reference & alternate) Χ 5 ancestry clusters.
  6. fFixation index (FST) across the five ancestry clusters.
  7. gAncestry cluster that shows the highest alternate allele frequency.