Table 1.
Performance of the rs4406273-A allele as a surrogate for HLA-C*06:02.
| Variable | Michigan sample (10,018 alleles) | Pakistan sample (1,670 alleles) | Thailand sample (614 alleles) |
|---|---|---|---|
| frequency HLA-C*06:02 | 0.1624 (0.1553–0.1698)1 | 0.1725 (0.1551–0.1913) | 0.1303 (0.1060–0.1592) |
| frequency rs4406273-A | 0.1612 (0.1541–0.1685) | 0.1683 (0.1511–0.1870) | 0.1336 (0.1089–0.1628) |
| D′ measure of LD | 0.9963 (0.9927–0.9993) | 0.9870 (0.9710–1.0000) | 1.0000 (1.0000–1.0000) |
| r2 measure of LD | 0.9839 (0.9769–0.9903) | 0.9456 (0.9150–0.9722) | 0.9706 (0.9255–1.0000) |
| genotype concordance | 0.9956 (0.9934–0.9971) | 0.9844 (0.9736–0.9909) | 0.9935 (0.9766–0.9988) |
| sensitivity | 0.9896 (0.9833–0.9935) | 0.9653 (0.9373–0.9810) | 1.0000 (0.9542–1.0000) |
| specificity | 0.9994 (0.9986–0.9997) | 0.9978 (0.9936–0.9994) | 0.9963 (0.9864–0.9993) |
| PPV | 0.9969 (0.9928–0.9987) | 0.9893 (0.9691–0.9971) | 0.9756 (0.9154–0.9957) |
| NPV | 0.9980 (0.9968–0.9987) | 0.9928 (0.9868–0.9961) | 1.0000 (0.9928–1.0000) |
| accuracy | 0.9978 (0.9967–0.9985) | 0.9922 (0.9867–0.9954) | 0.9967 (0.9882–0.9994) |
| MCC | 0.9919 (0.9885–0.9953) | 0.9726 (0.9579–0.9875) | 0.9859 (0.9667–1.0000) |
Abbreviations: LD, linkage disequilibrium; PPV, positive predictive value; NPV, negative predictive value; MCC, Matthews correlation coefficient
95% confidence intervals shown in parentheses for all values