Table 3. Association tests for Hardy–Weinberg equilibrium (HWE), minor allele frequencies and FST for 20 most strongly associated HLA alleles, blocks and haplotypes with north–south status.
Marker | Location | Gene symbol | Function | Combined MAF | Combined HWE −log10 P-value | North–south single SNP association –log10 P-value1 | North–south single block association −log10 P-value (r2≥0.5) | North–south FST | North MAF | North HWE −log10 P-value | South MAF | South HWE −log10 P-value |
---|---|---|---|---|---|---|---|---|---|---|---|---|
rs411136 | 33516520 | SYNGAP1 | Ser556Ser | 0.15 | 4.00 | 32.42 (28.57) | — | 0.29 | 0.33 | 0.37 | 0.034 | 0.00 |
rs1265160 | 31246350 | POU5F1 | Phe3Phe | 0.070 | 0.66 | 11.15 (11.55) | — | 0.099 | 0.15 | 1.44 | 0.023 | 0.00 |
rs3096702 | 32300309 | NOTCH4 | 5' region | 0.29 | 0.08 | 9.20 (8.29) | — | 0.087 | 0.42 | 0.39 | 0.22 | 0.02 |
rs2256328 | 31489616 | MICA | Intron | 0.24 | 0.33 | 8.87 (9.10) | — | -0.0021 | 0.12 | 0.93 | 0.31 | 0.24 |
rs2256594 | 32294850 | NOTCH4 | Intron | 0.13 | 0.00 | 8.46 (8.11) | — | 0.078 | 0.21 | 0.36 | 0.073 | 0.10 |
rs2535318 | 31159367 | — | — | 0.49 | 0.06 | 7.48 (6.66) | — | 0.070 | 0.37 | 0.00 | 0.44 | 0.19 |
rs659445 | 31972283 | EHMT2 | Intron | 0.28 | 0.57 | 7.07 (5.91) | — | 0.066 | 0.39 | 0.16 | 0.22 | 0.03 |
Block 20 | 33438959–33454164 | — | 1–1 haplotype | 0.40 | 0.23 | — | 6.36 (3.96) | 0.030 | 0.42 | 0.35 | 0.60 | 0.09 |
Block 10 | 31159367–31186474 | C6orf15 | 2–1 haplotype | 0.42 | 0.51 | — | 5.65 (4.83) | 0.037 | 0.51 | 0.71 | 0.34 | 0.19 |
rs389883 | 32055439 | STK19 | Intron | 0.23 | 0.10 | 5.49 (4.87) | — | 0.050 | 0.31 | 0.07 | 0.17 | 0.33 |
rs2855453 | 33242370 | COL11A2 | Intron | 0.31 | 0.97 | 5.44 (4.51) | — | 0.047 | 0.40 | 0.00 | 0.25 | 0.88 |
Block 8 | 30832409–30847883 | — | 1–1 haplotype | 0.16 | 0.15 | — | 5.4 (4.15) | 0.031 | 0.72 | 0.00 | 0.85 | 0.10 |
HLA-B*07/ C*0702 | ||||||||||||
Haplotype | — | HLA-B/C | — | — | — | — | 5.32 (5.32) | 0.050 | 0.16 | — | 0.060 | — |
rs1800684 | 32259972 | AGER, PBX2 | Ala3Ala, 3' region | 0.087 | 0.16 | 5.29 (5.07) | — | 0.042 | 0.14 | 0.20 | 0.053 | 0.03 |
rs1810472 | 33191099 | — | — | 0.32 | 0.23 | 5.14 (4.74) | — | 0.048 | 0.23 | 0.00 | 0.38 | 0.65 |
rs4713505 | 32212979 | — | — | 0.31 | 1.58 | 5.13 (4.01) | — | 0.045 | 0.22 | 0.59 | 0.37 | 0.70 |
HLA-B*08/ C*0701 Haplotype | — | HLA-B/C | — | — | — | — | 4.47 (4.82) | 0.042 | 0.13 | — | 0.049 | — |
rs8512 | 30819336 | IER3 | 3' UTR | 0.19 | 4.39 | 2.34 (4.74) | — | 0.017 | 0.14 | 0.00 | 0.22 | 6.64 |
rs211452 | 33438959 | — | — | 0.40 | 0.23 | 4.69 (4.11) | — | 0.039 | 0.31 | 0.35 | 0.46 | 0.090 |
Block 17 | 32331236–32345991 | — | 2–1 haplotype | 0.32 | 0.13 | — | 4.31 (4.64) | 0.024 | 0.21 | 0.00 | 0.11 | 0.00 |
SNPs shown are associated with north–south status after Bonferroni correction for all allelic and genotypic tests.
P-values for association tests are shown as allele-based first, genotype-based in parentheses.