Expression patterns common and unique to ulcerative colitis and celiac disease
ANNALS OF HUMAN GENETICS
Authors: Maria Medrano, Luz; Pascual, Virginia; Bodas, Andres; Lopez-Palacios, Natalia; Salazar, Isabel; Espino-Paisan, Laura; Gonzalez-Perez, Beatriz; Urcelay, Elena; Luis Mendoza, Juan; Nunez, Concepcion
Abstract
Autoimmune diseases like celiac disease (CeD) and ulcerative colitis (UC) show a common genetic background defined by the existence of shared susceptibility loci. We aimed to go deeper into this common genetic background through performing a cross-disease study based on gene expression. We measured the expression of 21 genes located in 13 CeD-UC susceptibility regions, and 10 genes in five CeD risk regions. Determinations were carried out in colon/rectum samples from 13 UC patients (inflamed and uninflamed tissue) and four colon samples from controls. Duodenal samples from 19 CeD patients and 12 controls were used for comparisons. Differences were analyzed using the Bayesian method. The shared chromosomal regions containing TNFAIP3, PTPN2, ICOSLG, C1orf106, and IL21 showed similar results in both diseases. FASLG, PLEK, CCR4, and TAGAP, all located in CeD risk loci, were up-regulated in both CeD and UC patients. Finally, ZFP36L1, ZMIZ1, PUS10, UBE2L3, and BACH2 showed opposite results in CeD and UC. A high complexity underlies autoimmune common susceptibility loci, as the expression pattern of the studied genes does not always correlate with the one expected attending to the apparent genetic background. Differentially expressed genes such as ZFP36L1, ZMIZ1, PUS10, and BACH2 deserve further research in autoimmune diseases.
PTPN2 rs1893217 single-nucleotide polymorphism is associated with risk of Behcet's disease in a Chinese Han population
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
Authors: Wu, Z.; Chen, H.; Sun, F.; Xu, J.; Zheng, W.; Li, P.; Chen, S.; Shen, M.; Zhang, W.; Li, M.; You, X.; Wu, Q.; Zhang, F.; Li, Y.
Abstract
Objective. Behcet's disease (BD) is a rare, chronic, relapsing, systemic, immune-mediated vasculitis and the etiology remains to be defined. This study investigated single-nucleotide polymorphisms (SNP) of tyrosine-protein phosphatase non-receptor type 2 (PTPN2) and inducible T-cell co-stimulator-ligand gene (ICOSLG) in Chinese Han BD patients and healthy controls because SNPs of these two genes are associated with risk of developing other auto-inflammation diseases. Methods. A total of 407 BD patients and 679 ethnically matched healthy controls were recruited for genotyping of PTPN2 rs1893217, rs2542151, rs2847297 and rs7234029 SNPs and ICOSLG rs2838519 and rs762421 SNPs using a Sequenom MassArray system. Results. PTPN2 rs1893217 was associated with risk of developing BD (chi(2)=10.01, p(c)=0.040), while the PTPN2 rs2542151 genotype had a weak association in basic genotype analysis (chi(2)=7.49, p=0.024), but it could not withstand the strongest Bonferroni correction (p=0.14). In contrast, PTPN2 rs2847297 and rs7234029 and ICOSLG rs2838519 and rs762421 did not correlate with BD risk. Moreover, logistic analysis with the additive, dominant and recessive genetic models did not reveal any statistical difference between BD cases and controls (p(c)>0.05). In addition, associations were observed between the two SNPs (rs1893217, rs2542151) and the patients with gastrointestinal involvement (p(c)=0.027, p(c)=0.032, respectively). Conclusion. PTPN2 variant rs1893217 was associated with risk of BD development in a Han Chinese population. Further study will confirm this finding and investigate the role of PTPN2 in development of BD.