Table 1.
The twenty-two strongest candidates for natural selection
Region | Chr:position (MB, HG17) |
Selected population | Long Haplotype Test | Size (Mb) | Total SNPs with Long Haplotype Signal |
Subset of SNPs that fulfil criteria 1 |
Subset of SNPs that fulfil criteria 1 and 2 |
Subset of SNPs that fulfil criteria 1, 2 and 3 |
Genes at or near SNPs that fulfil all three criteria |
---|---|---|---|---|---|---|---|---|---|
1 | chr1:166 | CHB+JPT | LRH, iHS | 0.4 | 92 | 39 | 30 | 2 | BLZF1, SLC19A2 |
2 | chr2:72.6 | CHB+JPT | XP-EHH | 0.8 | 732 | 250 | 0 | 0 | |
3 | chr2:108.7 | CHB+JPT | LRH, iHS, XP-EHH | 1.0 | 972 | 265 | 7 | 1 | EDAR |
4 | chr2:136.1 | CEU | LRH, iHS, XP-EHH | 2.4 | 1,213 | 282 | 24 | 3 | RAB3GAP1, R3HDM1, LCT |
5 | chr2:177.9 | CEU,CHB+JPT | LRH, iHS, XP-EHH | 1.2 | 1,388 | 399 | 79 | 9 | PDE11A |
6 | chr4:33.9 | CEU,YRI, CHB+JPT | LRH, iHS | 1.7 | 413 | 161 | 33 | 0 | |
7 | chr4:42 | CHB+JPT | LRH, iHS, XP-EHH | 0.3 | 249 | 94 | 65 | 6 | SLC30A9 |
8 | chr4:159 | CHB+JPT | LRH, iHS, XP-EHH | 0.3 | 233 | 67 | 34 | 1 | |
9 | chr10:3 | CEU | LRH, iHS, XP-EHH | 0.3 | 179 | 63 | 16 | 1 | |
10 | chr10:22.7 | CEU, CHB+JPT | XP-EHH | 0.3 | 254 | 93 | 0 | 0 | |
11 | chr10:55.7 | CHB+JPT | LRH, iHS, XP-EHH | 0.4 | 735 | 221 | 5 | 2 | PCDH15 |
12 | chr12:78.3 | YRI | LRH, iHS | 0.8 | 151 | 91 | 25 | 0 | |
13 | chr15:46.4 | CEU | XP-EHH | 0.6 | 867 | 233 | 5 | 1 | SLC24A5 |
14 | chr15:61.8 | CHB+JPT | XP-EHH | 0.2 | 252 | 73 | 40 | 6 | HERC1 |
15 | chr16:64.3 | CHB+JPT | XP-EHH | 0.4 | 484 | 137 | 2 | 0 | |
16 | chr16:74.3 | CHB+JPT, YRI | LRH, iHS | 0.6 | 55 | 35 | 28 | 3 | CHST5, ADAT1, KARS |
17 | chr17:53.3 | CHB+JPT | XP-EHH | 0.2 | 143 | 41 | 0 | 0 | |
18 | chr17:56.4 | CEU | XP-EHH | 0.4 | 290 | 98 | 26 | 3 | BCAS3 |
19 | chr19:43.5 | YRI | LRH, iHS, XP-EHH | 0.3 | 83 | 30 | 0 | 0 | |
20 | chr22:32.5 | YRI | LRH | 0.4 | 318 | 188 | 35 | 3 | LARGE |
21 | chr23:35.1 | YRI | LRH, iHS | 0.6 | 50 | 35 | 25 | 0 | |
22 | chr23:63.5 | YRI | LRH, iHS | 3.5 | 13 | 3 | 1 | 0 | |
Total SNPs | 16.74 | 9,166 | 2,898 | 480 | 41 |
Twenty-two regions were identified at a high threshold for significance (Methods), based on the LRH, iHS and/or XP-EHH test. Within these regions, we examined SNPs with the best evidence of being the target of selection on the basis of having a long haplotype signal, and by fulfilling three criteria: (1) being a high-frequency derived allele; (2) being differentiated between populations and common only in the selected population; and (3) being identified as functional by current annotation. Several candidate polymorphisms arise from the analysis including well-known LCT and SLC24A5 (ref. 2), as well as intriguing new candidates.