Table 1.
Description of the five studied polymorphisms
Reference | Location | Chromosome | Polymorphism | Minor allele frequency in cases | Minor allele frequency in controls | Hardy-Weinberg equilibrium χ2 p-value | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Allele change | Residue change | All | African origin | Others | All | African origin | Others | Cases | Controls | |||
rs1801516 | Coding region of ATM | 11q22–23 | G > A | D1853N | 0.11 | 0.14 | 0.10 | 0.11 | 0.13 | 0.10 | 0.08 | 0.7 |
rs944289 | Intergenic, 337 kb telomeric of NKX2–1 | 14q13.3 | C > T | - | 0.56 | 0.46 | 0.59 | 0.43 | 0.36 | 0.47 | 0.04 | 0.5 |
rs965513 | Intergenic, 57 kb upstream to FOXE1 | 9q22.33 | G > A | - | 0.36 | 0.28 | 0.39 | 0.25 | 0.21 | 0.26 | 0.6 | 0.9 |
rs1867277 | 5′UTR of FOXE1 | 9q22.33 | G > A | - | 0.46 | 0.40 | 0.48 | 0.37 | 0.38 | 0.36 | 0.7 | 0.4 |
rs71369530 | Exon 1 of FOXE1 | 9q22.33 | - | Poly-alanine tract expansion | 0.40 | 0.29 | 0.43 | 0.28 | 0.29 | 0.27 | 0.6 | 0.9 |