Table 4 Characterisation of VH genes.
| Case 1: | Case 2: | Case 3: | Case 4: | Case 5: | Case 6: | Healthy control16 | ||
|---|---|---|---|---|---|---|---|---|
| Generalised WG | Localised WG | Localised WG | Generalised WG | Localised WG | Localised WG | |||
| Individual genes | 35 | 30 | 24 | 29 | 28 | 38 | 84 | |
| Functionally rearranged* | 31 (89%) | 22 (73%) | 24 (100%) | 25 (86%) | 27 (96%) | 34 (89%) | 71 (84%) | |
| Mean mutation frequency (p value)† | 8% (<0.001)a | 7% (<0.001)a | 4% (0.011)a | 6% (<0.001)a | 6% (<0.001)a | 5% (<0.001)a | 3%a | |
| 8% (<0.001)b | 7% (<0.001)b | 5% (NS)b | 7% (<0.001)b | 6% (<0.01)b | 5% (<0.05)b | 4%b | ||
| Mean R:S ratio‡, CDR (p value) | 3.8 (NS) | 6.5 (0.04) | 4 (NS) | 2.6 (0.09) | 3.3 (NS) | 6.4 (0.04) | 3.3 | |
| Mean R:S ratio‡, FR (p value) | 1.49 (NS) | 1.6 (NS) | 2 (NS) | 1.5 (NS) | 1.7 (NS) | 1.4 (0.07) | 1.9 | |
| Genes with aa mutations to E/D: CDR1+2 (% of genes, p value) | 17 (55%, 0.00002) | 10 (45%, 0.002) | 7 (29%, NS) | 6 (24%, NS) | 8 (30%, 0.08) | 18 (53%, 0.00003) | 10 (14%) | |
| Mean CDR3 length (aa) | 13 | 13 | 14 | 16 | 14 | 15 | 12 |
Comparison between VH genes derived from endonasal tissues of patients with Wegener's granulomatosis and VH genes derived from peripheral blood of a healthy volunteer.16 Numbers (percentage) of functionally rearranged genes that carry amino acid (aa) exchanges to aspartate (D) or glutamate (E) were compared between patients and the healthy control (p values are given in parentheses).
*Number (percentage) of genes that potentially encode functional antibodies.
†The mean mutation frequency of all functionally rearranged genes (a) as well as of mutated genes only (b) was compared between patients and healthy controls.
‡Mean R:S ratio represents mutations that lead to amino acid (aa) replacement divided by mutations that do not affect the aa sequence within both the CDR and the FR.
aa, amino acid; CDR, complementarity determining region; FR, framework region.