Fas promoter polymorphism frequencies by Ro/La autoantibody status in patients with pSS v controls
| Polymorphism | pSS Ro/La Status (No (%)) | All pSS | Controls | ||||
|---|---|---|---|---|---|---|---|
| Negative | Ro only | Ro+La (ppt−)* | Ro+La (ppt+)* | ||||
| (n = 23) | (n = 9) | (n = 19) | (n = 50) | (n = 101) | (n = 108) | ||
| *Precipitin negative (ppt−) or precipitin positive (ppt+) La autoantibody determined from autoantibody reactivity by counterimmunoelectrophoresis; †all genotype distributions were in Hardy-Weinberg equilibrium; ‡the (−1377, −670) haplotypes were in linkage disequilibrium (p<0.00001) and the (−1377A, −670A) haplotype was not seen in this study; §the Fas−670A allele frequency was significantly greater in patients with Ro/La negative pSS than in patients with Ro/La positive pSS (p = 0.04). | |||||||
| Genotype distributions† | |||||||
| Fas (−1377, −670)‡ | G–A, G–A | 11 (48) | 1 (11) | 5 (26) | 13 (26) | 30 (30) | 33 (31) |
| G–A, A–G | 4 (17) | 1 (11) | 1 (5) | 5 (10) | 11 (11) | 13 (12) | |
| G–G, G–A | 6 (26) | 6 (67) | 10 (53) | 21 (42) | 43 (43) | 41 (38) | |
| A–G, A–G | 0 (0) | 0 (0) | 1 (5) | 3 (6) | 4 (4) | 1 (1) | |
| G–G, A–G | 0 (0) | 0 (0) | 0 (0) | 3 (6) | 3 (3) | 6 (6) | |
| G–G, G–G | 2 (9) | 1 (11) | 2 (11) | 5 (10) | 10 (10) | 14 (13) | |
| Fas −1377 | GG | 19 (83) | 8 (89) | 17 (89) | 39 (78) | 83 (82) | 88 (82) |
| GA | 4 (17) | 1 (11) | 1 (5) | 8 (16) | 14 (14) | 19 (18) | |
| AA | 0 (0) | 0 (0) | 1 (5) | 3 (6) | 4 (4) | 1 (1) | |
| Fas −670 | GG | 2 (9) | 1 (11) | 3 (16) | 11 (22) | 17 (17) | 21 (19) |
| GA | 10 (43) | 7 (78) | 11 (58) | 26 (52) | 54 (53) | 54 (50) | |
| AA | 11 (48) | 1 (11) | 5 (26) | 13 (26) | 30 (30) | 33 (31) | |
| Allele frequencies | |||||||
| Fas (−1377,−670)‡ | G–A | 0.696 | 0.500 | 0.553 | 0.520 | 0.564 | 0.556 |
| G–G | 0.217 | 0.444 | 0.368 | 0.340 | 0.327 | 0.347 | |
| A–G | 0.087 | 0.056 | 0.079 | 0.140 | 0.109 | 0.097 | |
| Fas −1377 | G | 0.913 | 0.944 | 0.921 | 0.860 | 0.891 | 0.903 |
| A | 0.087 | 0.056 | 0.079 | 0.140 | 0.109 | 0.097 | |
| Fas −670 | A | 0.696§ | 0.500 | 0.553 | 0.520 | 0.564 | 0.556 |
| G | 0.304 | 0.500 | 0.447 | 0.480 | 0.436 | 0.444 | |