Research Article
Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease
(a) FMF-related mutation frequency in the MEFV gene |
| | Mutation | Controls () | CD () | UC () |
| | Absent (, %) | 51 (85) | 33 (73.3) | 47 (85.5) | | Present (, %) | 9 (15) | 12 (26.7) | 8 (14.5) | | values | NA | 0.359 | >0.999 |
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CD: Crohn’s disease; UC: ulcerative colitis; FMF: Familial Mediterranean Fever; MEFV: Mediterranean Fever gene.
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(b) Frequency of mutation types |
| | Mutation type | UC, (%) | CD, (%) | Controls, (%) |
| | Heterozygous for one | 8 (100) | 8 (66.8) | 9 | | E148Q/w | 4 (50) | 2 (17) | 3 | | M694V/w | 1 (12.5) | 3 (25) | 3 | | R761H/w | 0 | 1 (8.3) | 0 | | V726A/w | 1 (12.5) | 0 | 0 | | M680I/w | 0 | 1 (8.3) | 3 | | K695R/w | 1 (12.5) | 1 (8.3) | 0 | | R628K/w | 1 (12.5) | 0 | 0 | | Homozygous for one | 0 | 2 (16.6) | 0 | | M694V/M694V | 0 | 1 (8.3) | 0 | | M694I/M694I | 0 | 1 (8.3) | 0 | | Compound heterozygous | 0 | 2 (16.6) | 0 | | M694V/V726A | 0 | 1 (8.3) | 0 | | M680I/V726A | 0 | 1 (8.3) | 0 |
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W: wild type; CD: Crohn’s disease; UC: ulcerative colitis.
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