Table 2. Comparison of predicted exome-based carrier rates with previous clinical estimates.
The P-value is calculated from Chi-square tests between two carrier estimates.
| Allele frequency | |||||
|---|---|---|---|---|---|
| Ethnic group | Country | This study | Previous study (+reference) | P value | |
| NHLBI | EA | USA | 0.000233 (2/8596) | - | - |
| AA | USA | 0.0402 (177/4402) | 0.0447–0.0577 (*1) | 6.46E-07-0.149 | |
| 1000G | AFR | 0.0915 (45/492) | 0.0447–0.0577 (*1) | 12.7E-05-0.0013 | |
| AMR | 0.0110 (4/362) | 0.00527–0.0316 (*1,2) | 0.0206–0.252 | ||
| ASN | 0 (0/572) | 0 (*3,4) | NA | ||
| EUR | 0 (0/758) | - | - | ||
| ASW | USA | 0.0246 (3/122) | 0.0447–0.0577 (*1) | 0.148–0.401 | |
| CEU | USA | 0 (0/170) | - | - | |
| CHB | China | 0 (0/194) | 0 (*4) | NA | |
| CHS | China | 0 (0/200) | 0 (*4) | NA | |
| CLM | Colombia | 0.00833 (1/120) | 0.008 (*4) | 0.967 | |
| FIN | Finland | 0 (0/186) | 0 (*4) | NA | |
| GBR | England | 0 (0/178) | 0.009 (*4) | 0.204 | |
| IBS | Spain | 0 (0/28) | 0.007 (*4) | 0.657 | |
| JPT | Japan | 0 (0/178) | 0 (*4) | NA | |
| LWK | Kenya | 0.0979 (19/194) | 0.038 (*4) | 0.000346 | |
| MXL | Mexico | 0 (0/132) | 0.007 (*4) | 0.335 | |
| PUR | Puerto Rico | 0.0273 (3/110) | 0.004 (*4) | 0.0001 | |
| TSI | Italy | 0 (0/196) | 0.005 (*4) | 0.321 | |
| YRI | Nigeria | 0.131 (23/176) | 0.171 (*4) | 0.155 |
Previously reported carrier rates are derived from four references (*1; National Center for Disease Control (http://www.cdc.gov/ncbddd/sicklecell/data.html), *2; Morton DA. Medical Issues in Social Security Disability 2013; *3, Modell B, et al. Bull World Health Organ 2008; *4, Piel FB, et al. Lancet 2013).