Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis
| Autor: | Xiadong Jiao, Ian Thompson, Robert B. Nussenblatt, Zhiyu Li, Robert Katamay, H. Nida Sen, Fielding Hejtmancik, Baoying Liu, Mengjun Hu |
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| Rok vydání: | 2012 |
| Předmět: |
Male
medicine.medical_specialty Pathology Genotype Genotyping Techniques Sarcoidosis Black People Gastroenterology Polymerase Chain Reaction Polymorphism Single Nucleotide White People Article Gene Frequency Internal medicine Genetic model Panuveitis Medicine Humans Histidine Allele Allele frequency business.industry Uveitis Posterior Odds ratio Middle Aged medicine.disease eye diseases Ophthalmology Factor H Case-Control Studies Complement Factor H Tyrosine Female sense organs business Uveitis |
| Zdroj: | American journal of ophthalmology. 155(6) |
| ISSN: | 1879-1891 |
| Popis: | Purpose To determine whether the complement factor H ( CFH ) tyrosine 402 histidine (Y402H) variant, recently shown to be associated with age-related macular degeneration (AMD) and multifocal choroiditis, is associated with specific ocular sarcoidosis clinical phenotypes in black and white persons. Design Case-control study. Methods The CFH Y402H polymorphism (rs1061170) was genotyped in 41 subjects with ocular sarcoidosis and 393 control subjects. Allele frequencies in the ocular sarcoidosis cases were compared with controls using chi-square score tests. Genotypic model-based (dominant, recessive, and additive) associations of the rs1061170 allele were tested using multivariate logistic regression. Bayesian information criteria were used to formalize model selection. Genotypes were correlated with disease characteristics and severity of ocular inflammation. Results The C allele (rs1061170) was found in 35% of controls, but occurred with a significantly higher frequency (48.7%) in ocular sarcoidosis cases (odds ratio, 1.72; 95% confidence interval, 1.09 to 2.78; P = .018). Logistic regression demonstrated an association between rs1061170 and ocular sarcoidosis in 2 of 3 genetic models (additive, P = .0078; recessive, P = .0018). Posterior uveitis and panuveitis were overrepresented significantly in cases with the homozygous variant genotype (CC, 91%; P = .047). The population-attributable risk related to this CFH risk variant was 20%. Conclusions The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in black and white persons. Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation. The prognostic importance of this genotype will require prolonged follow-up studies. |
| Databáze: | OpenAIRE |
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