HFE p.C282Y (rs1800562) allele frequencies in 34 population/control cohorts in Iberia

Background HFE p.C282Y (c.845G>A; rs1800562) is a common missense mutation in persons of European ancestry, but we found no comprehensive tabulation of p.C282Y allele frequencies in Iberia. Methods We performed computerized and manual searches to identify evaluable reports of p.C282Y alleles in population/control cohorts ≥50 subjects in Iberia. We tabulated numbers of subjects, nominal geographic sites of cohort recruitment, cohort characteristics, corresponding latitudes and longitudes, and p.C282Y allele frequencies [95% confidence intervals]. We computed the aggregate p.C282Y allele frequencies of mainland Spain and mainland Portugal and compared the aggregate frequencies using the Chi-square test (two-tailed). Using combined mainland Spain and mainland Portugal data, we computed the aggregate p.C282Y allele frequency in Iberia. Results We identified 25 cohorts in mainland Spain (12,297 subjects; 11 of the 15 autonomous communities) and nine cohorts in mainland Portugal (1,024 subjects; each of the five administrative regions). Cohorts were recruited in this region: latitude 43.4619 – 37.2299° N; longitude -9.1366 – 2.1899° W. The range of p.C282Y allele frequencies in the 34 cohorts was 0.0000 to 0.0517. The aggregate p.C282Y allele frequency in mainland Spain was 0.0291 (716/24,594) [0.0271, 0.0313] and that in mainland Portugal was 0.0303 (62/2048) [0.0237, 0.0386] (p = 0.8343). The aggregate p.C282Y allele frequency in Iberia was 0.0292 (778/26,642) [0.0272, 0.0313]. Conclusions We conclude that the aggregate HFE p.C282Y allele frequencies in mainland Spain and mainland Portugal do not differ significantly. The aggregate p.C282Y allele frequency of 34 population/control cohorts (13,321 subjects, 16 geographic regions) in Iberia is 0.0292.