Table 1.
Analysis of intronic and exonic SNP associated with FCGR2A C1 exona.
| Controls, no. (%) | Common variable immunodeficiency (CVID), no. (%) | IgG deficiency, no. (%) | sIgAD, no. (%) | XLA, no. (%) | Systemic lupus erythematosus (SLE), no. (%) | ||
|---|---|---|---|---|---|---|---|
| n = 55 | n = 46 | n = 15 | n = 11 | n = 6 | n = 91 | ||
| FCGR2Ag.6,357G>T(serine > proline) | |||||||
| Genotype frequency | |||||||
| CC | 18 (33.3) | 15 (32.6) | 5 (35.7) | 4 (36.4) | 2 (33.3) | 38 (41.8) | |
| CT | 28 (51.9) | 16 (34.8) | 6 (42.9) | 5 (45.5) | 4 (66.7) | 40 (44.0) | |
| TT | 8 (14.8) | 15 (32.6) | 3 (21.4) | 2 (18.2) | 0 (0.0) | 13 (14.3) | |
| P value | – | 0.0793 | 0.7791 | 0.9204 | 0.5738 | 0.5828 | |
| Allele frequency | |||||||
| C | 64 (59.3) | 46 (50.0) | 16 (57.1) | 13 (59.2) | 8 (66.7) | 116 (63.7) | |
| T | 44 (40.7) | 46 (50.0) | 12 (42.9) | 9 (40.9) | 4 (33.3) | 66 (36.3) | |
| P value | – | 0.1896 | 0.8393 | 0.9883 | 0.6193 | 0.4475 | |
| FCGR2Ag.6,363G>T(aspartic acid > tyrosine) | |||||||
| Genotype frequency | |||||||
| GG | 42 (76.4) | 29 (63.0) | 14 (93.3) | 7 (70.0) | 4 (66.7) | 64 (70.3) | |
| GT | 11 (20.0) | 14 (30.4) | 1 (6.7) | 3 (30.0) | 2 (33.3) | 21 (23.1) | |
| TT | 2 (3.6) | 3 (6.5) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 6 (6.6) | |
| P value | – | 0.3404 | 0.3342 | 0.6697 | 0.6918 | 0.6282 | |
| Allele frequency | |||||||
| G | 95 (86.4) | 72 (78.3) | 29 (96.7) | 17 (84.0) | 10 (83.3) | 149 (81.9) | |
| T | 15 (13.6) | 20 (21.7) | 1 (3.3) | 3 (15.0) | 2 (16.7) | 33 (18.1) | |
| P value | – | 0.7691 | 0.1159 | 0.1624 | 0.7735 | 0.3152 | |
| FCGR2Ag.6,391C>A(threonine > asparagine) | |||||||
| Genotype frequency | |||||||
| CC | 53 (96.4) | 45 (97.8) | 13 (86.7) | 11 (100.0) | 5 (83.3) | 90 (99.9) | |
| CA | 2 (3.6) | 1 (2.2) | 2 (13.3) | 0 (0.0) | 1 (16.7) | 1(1.1) | |
| AA | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| P value | – | 0.9386 | 0.1515 | 0.6423 | 0.1611 | 0.2950 | |
| Allele frequency | |||||||
| C | 108 (98.2) | 91 (98.9) | 28 (93.3) | 22 (100.0) | 11 (91.7) | 181 (99.5) | |
| A | 2 (1.8) | 1 (1.1) | 2 (6.7) | 0 (0.0) | 1 (8.3) | 1 (0.5) | |
| P value | – | 0.6223 | 0.1862 | 0.5079 | 0.1921 | 0.2644 | |
| FCGR2Ag.64131A>G(Intronic splice donor) | |||||||
| Genotype frequency | |||||||
| AA | 55 (100.0) | 46 (100.0) | 15 (100.) | 10 (90.9) | 6 (100.0) | 91 (100.0) | |
| AG | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (9.1) | 0 (0.0) | 0 (0.0) | |
| GG | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | |
| P value | – | N/A | N/A | 0.0242 | N/A | N/A | |
| Allele frequency | |||||||
| A | 110 (100.0) | 92 (100.0) | 30 (100.0) | 21 (95.5) | 12 (100.0) | 182 (100.0) | |
| G | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (4.5) | 0 (0.0) | 0 (0.0) | |
| P value | – | N/A | N/A | 0.0248* | N/A | N/A | |
aPatient groups include: CVID; IgG deficiency (hypogammaglobulinaemia or specific Ig or IgG deficiency); sIgAD (selective IgA-deficiency) or XLA (X-linked agammaglobulinaemia); and SLE. Nucleotide numbering from NG_012066.
The bolded text the sIgAD group highlights the only patient with the intronic splice donor SNP.