Significant genes identified by recessive diplotype scanning
| Chromosome . | Gene . | P . | OR . | SNPs . | Case+ . | Case− . | Control+ . | Control− . |
|---|---|---|---|---|---|---|---|---|
| chr6 | HFE | 1.29 × 10−8 | 28.6 | 14 | 8 | 10 | 189 | 6707 |
| chr12 | FGF6 | 1.99 × 10−6 | 22.8 | 10 | 6 | 12 | 153 | 6743 |
| chr21 | KRTAP15-1 | 7.55 × 10−5 | 6.78 | 5 | 11 | 7 | 1271 | 5625 |
| chr20 | XKR7 | 1.18 × 10−4 | 43.6 | 7 | 3 | 15 | 35 | 6861 |
| chr20 | CABLES2 | 1.28 × 10−4 | 42.4 | 7 | 3 | 15 | 36 | 6860 |
| chr22 | THOC5 | 1.38 × 10−4 | 6.24 | 9 | 13 | 5 | 1945 | 4951 |
| Chromosome . | Gene . | P . | OR . | SNPs . | Case+ . | Case− . | Control+ . | Control− . |
|---|---|---|---|---|---|---|---|---|
| chr6 | HFE | 1.29 × 10−8 | 28.6 | 14 | 8 | 10 | 189 | 6707 |
| chr12 | FGF6 | 1.99 × 10−6 | 22.8 | 10 | 6 | 12 | 153 | 6743 |
| chr21 | KRTAP15-1 | 7.55 × 10−5 | 6.78 | 5 | 11 | 7 | 1271 | 5625 |
| chr20 | XKR7 | 1.18 × 10−4 | 43.6 | 7 | 3 | 15 | 35 | 6861 |
| chr20 | CABLES2 | 1.28 × 10−4 | 42.4 | 7 | 3 | 15 | 36 | 6860 |
| chr22 | THOC5 | 1.38 × 10−4 | 6.24 | 9 | 13 | 5 | 1945 | 4951 |
The 6 most significant genes identified in the recessive diplotype scan are displayed. P values are from a 2-tailed Fisher exact test.
Case+, number of iron-overload case individuals carrying recessive diplotypes with putative functional alleles; Case−, number of cases carrying at least 1 homolog at the gene without a putative functional allele; Control+, number of control individuals carrying recessive diplotypes with putative functional alleles; Control−, number of controls carrying at least 1 homolog at the gene without a putative functional allele; OR, Haldane odds ratio; SNP, number of genotyped variants per gene that were polymorphic in the samples studied.