Genome-Wide Association Study Identifies Four Loci

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Supplementary Table 1: Imputed genotype frequencies for 14 NAT2 SNPs imputed with high
accuracy based on 1000 Genomes reference data.
Base pair change
70T>A
191G>A
282C>T
341T>C
403C>G
481C>T
578C>T
590G>A
609G>T
683C>T
766A>G
803A>G
857G>A
+14 kb G>A
rs name
rs45477599
rs1801279
rs1041983
rs1801280
rs12720065
rs1799929
rs79050330
rs1799930
rs45618543
rs45518335
rs55700793
rs1208
rs1799931
rs1495741
Position*
18,257,583
18,257,704
18,257,795
18,257,854
18,257,916
18,257,994
18,258,091
18,258,103
18,258,122
18,258,196
18,258,279
18,258,316
18,258,370
18,272,881
1/1**
1.000
1.000
0.705
0.573
1.000
0.576
1.000
0.727
1.000
1.000
1.000
0.568
0.976
0.364
1/2***
0.000
0.000
0.265
0.369
0.000
0.369
0.000
0.246
0.000
0.000
0.000
0.371
0.024
0.460
2/2****
0.000
0.000
0.030
0.058
0.000
0.055
0.000
0.028
0.000
0.000
0.000
0.061
0.000
0.175
Legend
* - position given according to the 19th version of the human reference genome from the Genome Reference
Consortium (hg19).
** - frequency of homozygous wild type genotype 1/1 (first allele in the Base pair change column).
*** - frequency of heterozygous genotype 1/2.
**** - frequency of homozygous variant genotype 2/2 (second allele in the Base pair change column).
Supplementary Table 2: Linkage disequilibrium between the NAT2 SNPs polymorphic in
Greenland used in assessing NAT2 status. The upper value refers to r2, the lower to D'.
SNP
rs1041983
rs1801280
rs1799929
rs1799930
rs1801280
rs1799929
rs1799930
rs1208
rs1799931
rs1495741
0.062
0.061
0.912
0.064
0.064
0.275
1
1
1
1
1
0.983
0.983
0.057
0.906
0.004
0.470
1
1
0.961
1
1
0.056
0.889
0.004
0.462
1
0.960
1
1
0.058
0.002
0.250
1
1
0.981
0.004
0.411
1
0.926
rs1208
rs1799931
0.018
1
1
Supplementary Table 3: NAT2 haplotypes for the six polymorphic SNPs in the 7-SNP panel
of 1556 Greenlandic individuals.
Haplotype* of rs1041983-rs1801280-rs1799929rs1799930-rs1208-rs1799931
Frequency
1-1-1-1-1-1
0.582
1-2-2-1-2-1
0.235
2-1-1-1-1-2
0.151
2-1-1-2-1-1
0.012
1-1-1-1-2-1
0.011
1-2-2-1-1-1
0.007
1-2-1-1-2-1
0.003
Legend
* - haplotype coding: wild type alleles are coded 1 (first allele in the Base pair change column in Table 1),
variant alleles are coded 2 (second allele in the Base pair change column in Table 1).
2
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