Table 4.
MEFV gene mutations in HSP patients and controls
| HSP patients | Controls | |
|---|---|---|
| (n = 60) | (n = 30) | |
| Wild-type, [mutation (–)] | 23(38.33%) | 19(63.3%) |
| Presence of MEFV gene mutations | 37(61.7%) | 11(36.7%) |
| Heterozygous for one | ||
| mutation | ||
| p.V726A / – | 12(20%) | 5(16.6%) |
| p.E148Q / – | 8(13.3%) | 4(13.3%) |
| p.M680I (G/A) / – | 8(13.3%) | 1(3.33%) |
| p.M694V / – | 5(8.3%) | 1(3.33%) |
| P369S / – | 1(1.7%) | |
| Compound heterozygous for two or three mutations: | 3(5%) | |
| E148Q/M694V | 2(3.3%) | |
| M680I/M694V/V726A | 1(1.70%) | |
| Allelic Frequency of MEFV gene mutations | ||
| HSP patients | Controls | |
| alleles(n = 120) | alleles(n = 60) | |
| V726A | 13(10.83%) | 5(3.15%) |
| E148Q | 10(8.3%) | 4(2.5%) |
| M680I (G/A) | 9(7.5%) | 1(.63%) |
| M694V | 8(6.6%) | 1(.63%) |
| P369S | 1(0.83%) | |
| Total | 41(34.1%) | 11(18.33%) |