NOD2/CARD15 mutation analysis and genotype-phenotype correlation in Jewish pediatric patients compared with adults with Crohn's disease

Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases

“…Paradoxically, in contrast to the data in adults, there are studies mainly looking at CARD15 polymorphisms [11][12][13][14][15][16][17][18][19]40] , while being scarce and conflicting on OCTN1/2 and DLG5 genes [41][42][43][44] . Moreover, many pediatric series are flawed by a small sample size [11,12,15,16,18,19,43,44] , little information on UC patients [13,15,41] , and lack of control populations [11,12,16,17,19] . In this study we have investigated the contribution of variants of CARD15, OCTN1/2 and DLG5 genes in IBD predisposition in a large Italian pediatric cohort.…”

“…CARD15 major variants are mostly associated with ileal disease and stricturing behaviour [7] . In pediatric series, a correlation with ileal localization [11][12][13][14] , stricturing behaviour [12,13,15] early surgery [12,13] growth delay [13,14] , and higher disease activity [13,16] has been reported, although with conflicting findings [17][18][19] . Functional polymorphisms in the carnitine organic cation transporter cluster (OCTN1/2) [20] on chromosome 5q31 and mutations in disc large gene 5 (DLG5) [21] on www.wjgnet.com the long arm of chromosome 10 (10q23) have also been reported to be associated with CD.…”

Special issues in pediatric inflammatory bowel disease

“…There has been some evidence to suggest that the ethnic background of a child with CD may be associated with different genetic variants. A study from Israel suggested that G908R (SPN 12) allele-variant of the NOD2/CARD15 gene is closely related to the appearance of CD at a young age in Jewish Ashkenazi patients [5] . Research is ongoing to further examine the influence of ethnicity on disease susceptibility and disease modification.…”

Kronik enflamatuar barsak hastalıkları

“…MHC klas II allelik beraberli¤i ülseratif kolitte Crohn hastal›¤›na göre daha s›kt›r; ancak baz› doku gruplar›nda HLA DRB1*0701, HLA DR B3 0301de hastal›¤a e¤ilim artm›fl oldu¤u, HLA-DRB1 1501 allelinin de hastal›ktan koruyucu bir rol oynad›¤› belirtilmifltir. MHC klas III'de TNF alfa geninin promoter bölgesinde allelik de¤iflimin Crohn hastal›¤›na e¤ilim ve hastal›¤›n progresyonu ile ba¤lant›l› oldu¤u gösterilmifltir (10)(11)(12)(13)(14)(15).…”

“…Hipotalamopituiter aks, barsak immün sistemi ve sinir sisteminin etkileflimi ile salg›lanan bu nöropeptidler stress durumlar›nda aktive olarak barsak enflamasyonunu artt›r›rlar (13,15).…”