Auteur Topic: Nieuw bewijs? voor CTLA4-ICOS genen-regio betrokken bij mogelijkheid Coeliakie  (gelezen 1894 keer)

ine

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Een academische dissertatie van 24 april 2009 uit Finland.

 
Citaat
Citaat
FINNISH RED CROSS BLOOD SERVICE AND FACULTY
OF BIOSCIENCES, DEPARTMENT OF BIOLOGICAL AND
ENVIRONMENTAL SCIENCES, DIVISION OF GENETICS,
UNIVERSITY OF HELSINKI, FINLAND

Katri Haimila
Genetics of T cell co-stimulatory receptors -CD28, CTLA4, ICOS and PDCD1 in immunity and transplantation

zie ook:
7.3 Association studies ..........................................................66
7.3.1 Coeliac disease (II and III) ..........................................66
7.3.2 IgA deficiency (III) .....................................................72
7.3.3 Common variable immunodefi ciency (III) .......................73
7.3.4 Meta-analysis (III) ......................................................74
7.3.5 Discrepant association results for the 2q33 region in CD ..75
7.3.6 Kidney transplantation patients (IV) ..............................78
7.4 Analysis of linkage in coeliac disease (III) ...........................79
7.5 Statistical signifi cance of the results ...................................80
7.6 Functional effects of the variants in the 2q33 region .............81
7.6.1 Genetic variants .........................................................82
7.6.2 Soluble CTLA4 ............................................................83


Een stukje van 7.6.1 Genetic variants:
Whereas there was no evidence for involvement of specific genetic
variants in CD28 or PDCD1, we found linkage and/or association of the
CTLA4 and ICOS genes with coeliac disease and IgA deficiency.
Interestingly, CD and IgAD share the same HLA risk haplotype B8-DR3-DQ2 as well as the same association with the CTLA4-ICOS region.

Several haplotypes in the CTLA4-ICOS locus affect the disease risk, thus it is still difficult to conclude whether the risk variant in coeliac disease is in CTLA4 or ICOS, or if rather a combination of variants within both genes leads to association of the CTLA4-ICOS region
.

Verkort hieronder de conclusie:
Citaat
Our results suggest new evidence for CTLA4-ICOS gene region to be involved in susceptibility of coeliac disease.
The earlier published contradictory association results can be explained by involvement of both CTLA4 and ICOS in disease susceptibility.

The pattern of variants acting together rather than a single polymorphism may confer the disease risk.
These genes may predispose also to immunodeficiencies as well as decreased graft survival and delayed graft function.
Consequently, the present study indicates that like the well established HLA locus, the co-stimulatory receptor genes predispose to variety of immune disorders



Totaal 107 pagina's.
Link:
https://oa.doria.fi/bitstream/handle/10024/44610/genetics.pdf?sequence=1








Groeten, Ine