Genetics of Celiac Disease. HLA and Non-HLA Genes

Author(s):  
Leticia Plaza-Izurieta ◽  
Nora Fernandez-Jimenez ◽  
Jose Ramon Bilbao
Keyword(s):  

2005 ◽  
Vol 289 (3) ◽  
pp. G495-G500 ◽  
Author(s):  
Begoña Diosdado ◽  
Dariusz T. Stepniak ◽  
Alienke J. Monsuur ◽  
Lude Franke ◽  
Martin C. Wapenaar ◽  
...  

Celiac disease (CD) is a complex genetic disorder of the small intestine. The DQ2/DQ8 human leucocyte antigen (HLA) genes explain ∼40% of the genetic component of the disease, but the remaining non-HLA genes have not yet been identified. The key environmental factor known to be involved in the disease is gluten, a major protein present in wheat, barley, and rye. Integrating microarray data and linkage data from chromosome 6q21–22 revealed the prolyl endopeptidase ( PREP) gene as a potential CD candidate in the Dutch population. Interestingly, this gene encodes for the only enzyme that is able to cleave the proline-rich gluten peptides. To investigate the role of the human PREP gene as a primary genetic factor in CD, we conducted gene expression, sequence analysis, and genetic association studies of the PREP gene and determined PREP enzyme activity in biopsies from CD patients and controls. Sequence analysis of the coding region of the PREP gene revealed two novel polymorphisms. Genetic association studies using two novel polymorphisms and three known PREP variants excluded a genetic association between PREP and CD. Determination of PREP activity revealed weak but significant differences between treated and untreated CD biopsies ( P < 0.05). Our results from the association study indicate that PREP is not a causative gene for CD in the Dutch population. These are further supported by the activity determinations in which we observed no differences in PREP activity between CD patients and controls.





2017 ◽  
Vol 52 (3) ◽  
pp. 184-184
Author(s):  
Hale Tuhan ◽  
Sakine Isik ◽  
Ayhan Abaci ◽  
Erdem Simsek ◽  
Ahmet Anik ◽  
...  


PLoS ONE ◽  
2011 ◽  
Vol 6 (11) ◽  
pp. e26920 ◽  
Author(s):  
Valentina Izzo ◽  
Michele Pinelli ◽  
Nadia Tinto ◽  
Maria Valeria Esposito ◽  
Arturo Cola ◽  
...  
Keyword(s):  


PLoS ONE ◽  
2016 ◽  
Vol 11 (3) ◽  
pp. e0152476 ◽  
Author(s):  
Ashok Sharma ◽  
Xiang Liu ◽  
David Hadley ◽  
William Hagopian ◽  
Edwin Liu ◽  
...  


Author(s):  
A. Zhernakova ◽  
C. Wijmenga
Keyword(s):  


2021 ◽  
Vol 14 ◽  
pp. 238
Author(s):  
Nada Boutrid ◽  
Hakim Rahmoune

We read with deep attention the case report recently published  about the peculiar association of morphea, celiac disease, dermatitis herpetiformis and dermatomyositis , and we would discuss the particular genetics that lay behind morphea and related autoimmune disorders, with a focus on HLA genes.



2017 ◽  
Vol 52 (3) ◽  
pp. 182-184
Author(s):  
Hakim Rahmoune ◽  
Nada Boutrid ◽  
Mounira Amrane ◽  
Belkacem Bioud


2011 ◽  
Vol 26 (4) ◽  
pp. 221-228 ◽  
Author(s):  
Laura Caggiari ◽  
Giuseppe Toffoli ◽  
Valli De Re ◽  
Nicoletta Orzes ◽  
Michele Spina ◽  
...  

The pathogenesis of celiac disease (CD) is associated with polymorphisms in human leukocyte antigen (HLA) genes; however, compelling evidence suggests that additional non-HLA genes are associated with CD and related complications. The present study investigated whether killer cell immunoglobulin-like receptor (KIR)/HLA gene combinations are associated with CD and its clinical complications in the population of northeast Italy. The study included 61 adults affected by CD: 48 patients were at first diagnosis and 13 patients had CD-related complications (8 with refractory CD and 5 with cancer). Controls were 69 blood donors genotyped for KIR and HLA. Several statistically significant differences emerged between CD patients and blood donors. The results herein presented show that susceptibility to CD with refractory disease or cancer is associated with various genotypes including the 2DS2/2DL2+C1, 2DS3, 3DL1, and 2DL5B genes. In addition, the absence of the Bw4 ligand may be a predisposing factor for cancer. These results suggest that a KIR haplotype and HLA ligands may be involved in the susceptibility to important clinical CD complications such as tumors or refractoriness as a result of a gluten-free diet.



2016 ◽  
Vol 70 ◽  
pp. 63-72 ◽  
Author(s):  
Laura Pisapia ◽  
Alessandra Camarca ◽  
Stefania Picascia ◽  
Virginia Bassi ◽  
Pasquale Barba ◽  
...  


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