Comparison of HFE Gene Frequencies in XLSA to Those in Normal Individuals
Population . | XLSA Hemizygotes4-150 . | Random Controls4-151 . | References . | ||||
---|---|---|---|---|---|---|---|
Total Chromosomes . | C282Y Alleles . | H63D Alleles . | Total Chromosomes . | C282Y Alleles . | H63D Alleles . | ||
United Kingdom | 16 | 2 | 4 | 624 | 37 | 81 | 41, 42 |
United States | 8 | 1 | 2 | 312 | 19 | 49 | 25, 38, 43 |
Italy | 6 | 1 | 0 | 234 | 2 | 28 | 44, 45 |
France | 2 | 1 | 1 | 78 | 3 | 13 | 46-48 |
Germany | 2 | 0 | 0 | 78 | 3 | 11 | 42 |
The Netherlands | 2 | 0 | 0 | 78 | 2 | 23 | 42 |
Total: | 36 | 5 | 7 | 1,404 | 66 | 205 | |
At-Risk allele frequency‡ | 0.172 | 0.226 | 0.055 | 0.153 | |||
χ2 = | 4.06 | 0.097 | — | — | |||
P = | .044 | .449 | — | — |
Population . | XLSA Hemizygotes4-150 . | Random Controls4-151 . | References . | ||||
---|---|---|---|---|---|---|---|
Total Chromosomes . | C282Y Alleles . | H63D Alleles . | Total Chromosomes . | C282Y Alleles . | H63D Alleles . | ||
United Kingdom | 16 | 2 | 4 | 624 | 37 | 81 | 41, 42 |
United States | 8 | 1 | 2 | 312 | 19 | 49 | 25, 38, 43 |
Italy | 6 | 1 | 0 | 234 | 2 | 28 | 44, 45 |
France | 2 | 1 | 1 | 78 | 3 | 13 | 46-48 |
Germany | 2 | 0 | 0 | 78 | 3 | 11 | 42 |
The Netherlands | 2 | 0 | 0 | 78 | 2 | 23 | 42 |
Total: | 36 | 5 | 7 | 1,404 | 66 | 205 | |
At-Risk allele frequency‡ | 0.172 | 0.226 | 0.055 | 0.153 | |||
χ2 = | 4.06 | 0.097 | — | — | |||
P = | .044 | .449 | — | — |
Calculated from patient data listed in Table 3 omitting family 1 and the heterozygotes.
The proportion of normal chromosomes analyzed for the 6 representative populations was kept identical to those for the XLSA populations. The absolute number of chromosomes in each population was set proportional to that for The Netherlands population, which was, relatively, the smallest sample size. The number of C282Y and H63D alleles in each population was calculated using the respective allele frequency found in the particular study.
Calculated as: frequency = [C282Y Alleles]/[(Total Chromosomes) − (H63D Alleles)] and [H63D Alleles]/[(Total Chromosomes) − (C282Y Alleles)], since there is complete linkage disequilibrium between C282Y and H63D.