@article{TEXTUAL,
      recid = {10463},
      author = {Sperandeo, Maria Pia and Tosco, Antonella and Izzo,  Valentina and Tucci, Francesca and Troncone, Riccardo and  Auricchio, Renata and Romanos, Jihane and Trynka, Gosia and  Auricchio, Salvatore and Jabri, Bana and Greco, Luigi},
      title = {Potential Celiac Patients: A Model of Celiac Disease  Pathogenesis},
      journal = {PLOS ONE},
      address = {2011-07-08},
      number = {TEXTUAL},
      abstract = {&lt;p&gt;Background and Aim: Potential celiacs have the ‘celiac  type’ HLA, positive anti-transglutaminase antibodies but no  damage at small intestinal mucosa. Only a minority of them  develops mucosal lesion. More than 40 genes were associated  to Celiac Disease (CD) but we still do not know how those  pathways transform a genetically predisposed individual  into an affected person. The aim of the study is to explore  the genetic features of Potential CD  individuals.&lt;/p&gt;&lt;p&gt;Methods: 127 ‘potential’ CD patients  entered the study because of positive anti-tissue  transglutaminase and no mucosal lesions; about 30% of those  followed for four years become frankly celiac. They were  genotyped for 13 polymorphisms of ‘candidate genes’ and  compared to controls and celiacs. Moreover, 60 biopsy  specimens were used for expression studies.&lt;/p&gt;&lt;p&gt;Results:  Potential CD bear a lighter HLA-related risk, compared to  celiac (χ&lt;sup&gt;2&lt;/sup&gt; = 48.42; &lt;em&gt;p  value&lt;/em&gt; = 1×10&lt;sup&gt;−8&lt;/sup&gt;). They share most of the  polymorphisms of the celiacs, but the frequency of c-REL* G  allele was suggestive for a difference compared to celiac  (χ&lt;sup&gt;2&lt;/sup&gt; = 5.42; &lt;em&gt;p value&lt;/em&gt; = 0.02). One marker  of the KIAA1109/IL-2/IL-21 candidate region differentiated  potentials from celiac (rs4374642: χ2 = 7.17, &lt;em&gt;p  value&lt;/em&gt; = 0.01). The expression of IL-21 was completely  suppressed in potentials compared to celiacs (&lt;em&gt;p  value&lt;/em&gt; = 0.02) and to controls (&lt;em&gt;p  value&lt;/em&gt; = 0.02), in contrast IL-2, KIAA1109 and c-REL  expression were over-expressed.&lt;/p&gt;&lt;p&gt;Conclusions:  Potential CD show genetic features slightly different from  celiacs. Genetic and expression markers help to  differentiate this condition. Potential CD is a precious  biological model of the pathways leading to the small  intestinal mucosal damage in genetically predisposed  individuals.&lt;/p&gt;},
      url = {http://knowledge.uchicago.edu/record/10463},
}