Auteur Topic: 3e genetische marker voor Coeliakie ontdekt  (gelezen 2818 keer)

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3e genetische marker voor Coeliakie ontdekt
« Gepost op: augustus 12, 2009, 16:13:53 »
Onderstaand artikel is in het Engels.

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Citaat
3e genetische marker voor Coeliakie ontdekt

Third Genetic Marker for Celiac Disease Discovered
Published on Aug 11, 2009
A third Class II HLA gene has been identified as another risk factor for celiac disease by a researcher at the University of the Basque Country in Spain.

Itziar Zubillaga Azpiroz, who is working on her PhD, found that the HLA-DRB1 gene, in addition to the HLA-DQA1 and HLA-DQB1 genes, “confers a genetic susceptibility to contracting the disorder.
” The two previously known genes, HLA-DQA1 and HLA-DQB1, were shown to indicate 40% of the “genetic tendency” to contract celiac disease.
Now, with HLA-DRB1 as an additional genetic risk factor for celiac disease, researchers showed “a positive predictive value of 100% and a negative predictive value of 97%” for predicting genetic risk for the disease.

Azpiroz examined the cases of 175 patients afflicted with celiac disease. Analysis of the Class II HLA genes showed that a “genetic imbalance” existed in the patients.
Study results showed that “90-95% of patients with celiac disease have illness-related HLA genes,” and “90% of these are carriers of the HLA-DQ2 molecule.”

In terms of diagnosing celiac disease, Azpiroz has shown that patients who are carriers of two of the gens have the greatest risk for contracting the illness, while “carriers of a single copy of the HLA-DQ2 and HLA-DQ8 molecules are at medium risk,” and then there are patients who are “carriers of at least one of HLA genes that code for the HLA-DQ2 molecule.
” These individuals were at the lowest risk for contracting celiac disease among all the patients studied, thoughceliac-disease.jpg they were still at a higher risk than patients who did not carry any of the Class II HLA genes.

According to the research, “all those patients in which celiac disease was suspected and who showed both serological and genetic markers fixed for the diagnosis of the disease in these analyses proved in the end to be celiac sufferers,” so results of the new research may provide a new method for testing for the disease.

http://www.hcplive.com/mdnglive/webexclusives/celiac_disease



Dit artikel is gerelateerd aan het artikel hierboven:
Citaat
University Of The Basque Country Researcher Studies Genes Associated With Celiac Disease

For her PhD thesis, the researcher studied the genetic profiles of 175 cases of patients suffering from celiac illness, in order to determine which genes are related to the disease and to study diagnostic methods.

The objective of this research was to identify the genes associated with celiac disease.
The author of the PhD thesis is Ms Itziar Zubillaga Azpiroz.
Her thesis was entitled, Molecular genetic analysis of celiac disease and its contribution to diagnosis.

It is currently known that 40% of the genetic tendency to contracting the illness is due to Class II HLA genes specifically to HLA-DQA1 and HLA-DQB1 genes.
In her work, Ms Zubillaga analysed HLA Class II genes in a number of celiac patients and she showed once again that the presence of HLA-DQA1, HLA-DQB1 and HLA-DRB1 genes confers a genetic susceptibility to contracting the disorder.
The data obtained from the analysis confirmed that, in the case of patients analysed, there is a genetic imbalance in these genes.

The precise analysis of these genes enabled the researcher to produce a graphical-format gradient of the genetic risk of suffering from the disorder as a function of the Class II HLA genes carried by the individual.

The greatest genetic risk occurs when the patient is a carrier of the two susceptible genes; carriers of a single copy of the HLA-DQ2 and HLA-DQ8 molecules are at medium risk and, finally, there are those carriers of at least one of the HLA genes that code for the HLA-DQ2 molecule.

The literature published shows that 90-95% of patients with celiac disease have illness-related HLA genes.
90% of these are carriers of the HLA-DQ2 molecule.
From an overall perspective, the thesis author confirmed that most of the patients studied for the research (96.56%) were genetically characterised as being carriers of the HLA genes associated to celiac disease i.e. a greater percentage than that cited in the literature.

Contribution to diagnosis
Focus was also on determining to what extent intestinal biopsy in the initial diagnosis of the disease can be substituted by the joint use of serological markers and genetic markers.
Results showed that this combination of markers provides a positive predictive value of 100% and a negative predictive value of 97%, which clearly shows that the combination put forward is a valid alternative to intestinal biopsy.
All those patients in which celiac disease was suspected and who showed both serological and genetic markers fixed for the diagnosis of the disease in these analyses proved in the end to be celiac sufferers.

Genetic disease and autoimmune system
Celiac disease is caused by a permanent intolerance to proteins present in certain cereals and occurs in genetically prone individuals.
This intolerance presents itself as chronic inflammation of the small intestine.
The results support the view that celiac disease is a genetic pathology, given that 10% of first-order relatives of sufferers also have the disorder.
The current understanding is that of an autoimmune disease that can be treated effectively by excluding gluten from the diet.

Source: Elhuyar Fundazioa

http://www.medicalnewstoday.com/articles/160186.php






Groeten, Ine