DLG5 R30Q Is Not Associated With IBD in Hungarian IBD Patients but Predicts Clinical Response to Steroids in Crohn's Disease

Lakatos, Péter L.; Fischer, Simon; Claes, Karolien; Kovács, Ágota; Molnár, Tamás; Altorjay, István; Demeter, Pál; Tulassay, Zsolt; Palatka, Károly; Papp, Mária; Rutgeerts, Paul; Szalay, Ferenç; Papp, J.; Vermeire, Séverine; Lakatos, László

doi:10.1097/01.mib.0000217336.38312.09

Cited by 26 publications

(19 citation statements)

References 46 publications

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“…The association of the R30Q variant with IBD has been supported in some studies [12,24,25,27], but failed to be replicated in others [28][29][30][31][32][33][34].…”

Section: Discussionmentioning

confidence: 97%

“…Friedrichs et al, found a male-specific association of the R30Q variant with CD, with no association of the R30Q variant with women, nor with the entire sample of men and women [27]. However, the association of the R30Q variant with IBD failed to be replicated by several other groups with samples from several different countries, including Germany, Scotland, Belgium, and Hungary [28][29][30][31][32][33][34][35][36]. A US based population of IBD patients has been also studied [17,37].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2009

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Abstract. 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 TM 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 female p = 0.015 vs 0.241 (IBD), p = 0.024 vs 0.190 (CD), and p = 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.

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“…The association of the R30Q variant with IBD has been supported in some studies [12,24,25,27], but failed to be replicated in others [28][29][30][31][32][33][34].…”

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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

et al. 2009

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“…Present approaches have not been able to discern whether these other genes or the class Ⅱ genes are the true risk genes in the HLA locus. [79][80][81][82] , multiple polymorphisms in the MDR1/ABCB1 gene on chromosome 7q [83][84][85][86][87][88][89][90][91][92] , and polymorphisms in the DLG5 gene on chromosome 10q [70,[93][94][95][96][97][98][99][100][101][102] . (See section C.4.1.)…”

Section: Hla Associationsmentioning

confidence: 99%

Inflammatory bowel disease: Genetic and epidemiologic considerations

Cho

2008

WJG

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Genome-wide association studies have firmly established that many genomic loci contribute to inflammatory bowel disease, especially in Crohn's disease. These studies have newly-established the importance of the interleukin 23 and autophagy pathways in disease pathogenesis. Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors.

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“…Contrasting are the findings from a study by Browning et al, in which in a population of 4707 CD patients no difference in male and female allele frequencies could be demonstrated [74]. In a Hungarian study the 113A allele was shown to be associated with steroid resistance [76]. In summary, it is still obscure how DLG5 contributes to the overall disease risk of CD.…”

Section: Dlg5mentioning

confidence: 78%