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Steinwender, G; Lindner, E; Weger, M; Plainer, S; Renner, W; Ardjomand, N; El-Shabrawi, Y.
Association between polymorphism of the vitamin D metabolism gene CYP27B1 and HLA-B27-associated uveitis. Is a state of relative immunodeficiency pathogenic in HLA B27-positive uveitis?
PLoS One. 2013; 8(4):e62244-e62244 Doi: 10.1371/journal.pone.0062244 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
El-Shabrawi Yosuf
Steinwender Gernot
Co-Autor*innen der Med Uni Graz
Ardjomand Navid
Lindner Ewald
Renner Wilfried
Weger Martin
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Abstract:
Polymorphisms of the vitamin D metabolism gene CYP27B1 showed associations with multiple autoimmune diseases. The aim of this study was to investigate a possible association between the rs703842 A>G polymorphism of the CYP27B1 gene and HLA-B27-associated uveitis. One hundred fifty-nine patients with HLA-B27-associated uveitis, 138 HLA-B27-negative controls and 100 HLA-B27-positive controls were recruited for this retrospective case-control study. Main outcome parameters were genotype distribution and allelic frequencies determined by polymerase chain reaction. Carriers of the rs703842G allele were found significantly more often in patients with HLA-B27-associated uveitis than in HLA-B27-positive controls (p = 0.03). Between patients and HLA-B27-negative controls no significant difference in the genotype distribution of the rs703842 A>G polymorphism was found (p = 0.97). Our data suggest that the rs703842 A>G polymorphism may play a role in HLA-B27-associated uveitis.
Find related publications in this database (using NLM MeSH Indexing)
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics
Adult -
Case-Control Studies -
Demography -
Female -
Genetic Association Studies -
Genetic Predisposition to Disease -
HLA-B27 Antigen - genetics
Humans -
Male -
Polymorphism, Single Nucleotide - genetics
Uveitis - enzymology
Uveitis - genetics
Uveitis - immunology
Vitamin D - metabolism

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