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PLoS One. 2013 Apr 17;8(4):e62244. doi: 10.1371/journal.pone.0062244. Print 2013.

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?

Author information

1
Department of Ophthalmology, Auenbrugger University Graz, Graz, Austria.

Abstract

OBJECTIVE:

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.

DESIGN:

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.

RESULTS:

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).

CONCLUSIONS:

Our data suggest that the rs703842 A>G polymorphism may play a role in HLA-B27-associated uveitis.

PMID:
23614044
PMCID:
PMC3629157
DOI:
10.1371/journal.pone.0062244
[Indexed for MEDLINE]
Free PMC Article
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