Forms Of IBD Research Articles

Genetic Association of DLG5 R30Q with Familial and Sporadic Inflammatory Bowel Disease in Men

Background: The association of DLG5 R30Q with IBD has been replicated in several populations, but is not statistically significant in others. We studied the incidence of DLG5 alleles in a population of IBD patients from Pennsylvania.Methods: DLG5 R30Q (rs1248696) and G1066G (rs1248634) were analyzed with PCR-based RFLP methods in a total of 521 subjects, that included 105 individuals with IBD and 139 without IBD from a familial IBD registry, 107 with sporadic IBD, and 170 unrelated healthy controls. R30Q was further analyzed with SNPlex™ Genotyping System in 473 samples.Results: RFLP genotyping data showed that, DLG5 R30Q was significantly associated with IBD overall (p=0.006), and separately with CD (p=0.009) and UC (p=0.024). The association of R30Q with IBD was entirely due to a male-associated effect (male vs femalep=0.015 vs 0.241 (IBD),p=0.024 vs 0.190 (CD), andp=0.019 vs 0.575 (UC)). The frequency of the A allele carriage was elevated in both affected and unaffected members in the familial IBD cohort compared to healthy controls (p=0.037). In the family pedigrees, we observed differences in the expression of IBD in individuals carrying the A allele between families.Conclusions: In the studied population, DLG5 R30Q was associated with all forms of IBD. An elevated presence of the R30Q variant was observed in all members of a familial IBD registry. This association of the R30Q variant with IBD was male-specific.

RDW can be a useful additional marker in diagnosing Crohn's disease and ulcerative colitis

Anaemia is a common complication in patients with inflammatory bowel diseases (IBD-Crohn's disease [CD], ulcerative colitis [UC]) and is mainly caused by iron malabsorption and intestinal bleeding. Red blood cell distribution width (RDW) provides a quantitative measure of the size variability within the red blood cell population and may be increased even before iron deficiency becomes obvious. Recent data suggest that RDW could be a reliable marker in differentiating between CD and UC. The aim of our study was to retrospectively evaluate whether RDW can help to differentiate the two forms of IBD in daily clinical practice, and whether a correlation between RDW and the activity of IBD is demonstrable. Patients and methods. The clinical records of 176 patients were reviewed; 92 patients with CD (57 females, 35 males; mean age 37.5 years, range 17–73), 84 with UC (43 females, 41 males; mean age 44.4 years, range 16–81). RDW values measured in an active and in an inactive period of the diseases were assessed. Disease activity was estimated by serum iron level, C-reactive protein (CRP) level, erythrocyte sedimentation rate (ESR) and Crohn's disease activity index (CDAI)/Clinical activity index (CAI). The relations between these parameters and RDW, and between the RDW values in the two patient groups both in the active and in the inactive period of the diseases were statistically analyzed. Results. RDW was increased in 53.2% of the patients with inactive CD vs. 36.8% of the patients with inactive UC, representing a statistically significant difference (14.3 vs. 13.8, P=0.05). However, a significant correlation could not be detected between the RDW values of CD and UC in the active period of the diseases (14.7 vs. 14.4, P=0.393). Mean RDW was significantly increased in the active form of both CD and UC compared to the normal values of RDW. Conclusion. According to our results, RDW did not prove to be an effective marker in differentiating CD and UC in the active period of the diseases. However, it could be a useful and inexpensive additional marker in diagnosing IBD.