期刊
HUMAN IMMUNOLOGY
卷 71, 期 1, 页码 96-99出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.humimm.2009.09.359
关键词
Celiac disease; Genetic susceptibility; Ubiquitin D
类别
资金
- Basque Department of Health [06/111030]
- Instituto de Salud Carlos III of the Spanish Ministry of Science and Innovation [04/1170, 07/0796]
- Spanish Ministry Science and Innovation
- Basque Department of Industry [SAIOTEK08/00231]
- Instituto de Salud Carlos III I3SNS Program [CES05/036]
An aberrant immune response triggered by dietary gluten is the main driving force underlying celiac disease (CD), but other biologic pathways that are dysregulated also participate in disease development. Genetic variation within these pathways might influence expression, contributing to susceptibility to CD. We have investigated the implication of ubiquitin D (UBD), a member of the ubiquitin-proteasome system that is strongly upregulated in the intestinal mucosa of active CD. Reverse transcriptase-polymerase chain reaction analysis of intestinal biopsy sample pairs (at diagnosis vs treated) from 30 CD patients confirmed overexpression of UBD in active disease tissue (fold change = 8.3; p = 0.0022). In silico, prediction tools identified rs11724 as a putative regulatory single nucleotide polymorphism and association analysis of 468 CD patients and 459 controls revealed that the minor rs11724*C allele was more frequent among patients (minor allele frequency 0.44 vs 0.39; odds ratio [OR] = 1.23: p = 0.028) and suggested a dominant allele effect (OR = 1.49: p = 0.0045). Correlation of the rs11724 genotype and UBD mRNA levels (OR = 0.76; p = 0.0021) further Supports its implication in disease development. (C) 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
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