Table 1.
Population-specific prevalence of ten common autosomal recessive disorders.
| Disorder | Causative genes | Pathogenic variantsa | Interethnic variability | Cases per 10,000 individuals | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Global | EUR | FIN | AJ | LAT | SAS | EAS | AFR | ||||
| Hyperprolinemia | PRODH, ALDH4A1 | 207 (7/200) | 663 | 54.9 | 114.2 | 23.9 | 132.5 | 24.1 | 23.1 | 0.2 | 12.7 |
| Hemochromatosis, type 1 | HFE | 35 (5/30) | 335 | 11.6 | 33.5 | 12.3 | 1.4 | 2.4 | 0.1 | <0.1 | 1.2 |
| Biotinidase deficiency | BTD | 124 (59/65) | 309 | 12.2 | 18.4 | 30.9 | 10.8 | 5 | 17.7 | <0.1 | 0.9 |
| Stargardt disease | ABCA4 | 528 (149/379) | 113 | 4.3 | 4.8 | 0.2 | 6.3 | 3 | 1.3 | 2.9 | 22.5 |
| Sickle cell anemia | HBB | 62 (44/18) | 211 | 0.6 | <0.1 | 0.1 | <0.1 | 0.1 | 1.8 | 0.2 | 21.1 |
| Familial Mediterranean fever | MEFV | 95 (15/80) | 155 | 0.1 | 0.1 | <0.1 | 15.5 | <0.1 | <0.1 | 0.2 | <0.1 |
| Gaucher disease | GBA | 93 (34/59) | 98 | 0.1 | 0.1 | 0.1 | 9.8 | <0.1 | <0.1 | <0.1 | <0.1 |
| Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | CYP21A2 | 49 (10/39) | 48 | 1.1 | 1.8 | 0.3 | 0.2 | 0.5 | 0.2 | 9.6 | 0.3 |
| Infantile hypercalcemia | CYP24A1,SLC34A1 | 278 (19/259) | 18 | 4.2 | 8.3 | 8.8 | 1.1 | 0.5 | 2.3 | 0.8 | 0.6 |
| Cystic fibrosis | CFTR | 408 (183/225) | 39 | 3.1 | 6 | 0.6 | 7.7 | 2.2 | 1.2 | 0.2 | 1.3 |
Interethnic variability is defined as the fold change between the highest and the lowest population-specific frequency. The highest population-specific prevalence for each disease is indicated in bold.
EUR Europeans, FIN Finns, AJ Ashkenazi Jews, LAT Latin Americans, SAS South Asians, EAS East Asians, AFR Africans.
aValues in brackets indicate the number of pathogenic and number of predicted pathogenic variants.