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Victoria S Chang, Evangelia Papavasileiou, Ai Ren, Eduardo Uchiyama, Lynn Sullivan, Ann-Marie Lobo, George Papaliodis, Lucia Sobrin; Gene Polymorphisms associated with Ocular involvement in Sarcoidosis . Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1258.
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© ARVO (1962-2015); The Authors (2016-present)
Uveitis occurs in less than half of patients with systemic sarcoidosis. The purpose of this study was to determine if there are single nucleotide polymorphisms (SNPs) that confer an increased risk for ocular involvement in sarcoidosis.
DESIGN: Genetic case-control association study.<br /> SETTING: Tertiary uveitis referral center at the Massachusetts Eye and Ear Infirmary.<br /> PARTICIPANTS: 59 patients with systemic sarcoidosis. 47 patients had ocular involvement attributed to sarcoidosis and were considered cases. 12 patients had systemic sarcoidosis without any ocular involvement and were considered controls.<br /> METHODS: 35 SNPs previously associated with sarcoidosis, sarcoidosis severity, or other organ-specific sarcoidosis involvement were genotyped with the Sequenom MassARRAY iPLEX platform. Allele frequencies in ocular sarcoidosis cases versus controls were compared using the chi-square test, and p values were corrected for multiple hypotheses testing using permutation. All analyses were conducted with PLINK.
Two SNPs, rs1891467 in transforming growth factor beta (TGF) - β2 and rs479777 upstream of CCDC88B were associated with ocular sarcoidosis involvement. Specifically, the G allele of rs1891467 (OR=4.6, p=0.04) and the T allele of rs479777 (OR=4.2, p=0.00) were found to be more prevalent in ocular sarcoidosis cases. These associations remained after multiple hypothesis correction (p values of 0.04 and 0.00, respectively). The TGF-β2 59941 G allele has previously been associated with increased risk of pulmonary fibrosis, and the rs479777 T allele has been linked with an increased susceptibility to sarcoidosis in European populations.
The rs1891467 and rs479777 polymorphisms were associated with an increased risk of ocular involvement in sarcoidosis. Further investigation is necessary to confirm this initial finding.
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