PMID- 27380463 OWN - NLM STAT- MEDLINE DCOM- 20180827 LR - 20180827 IS - 1744-5078 (Electronic) IS - 0927-3948 (Linking) VI - 26 IP - 1 DP - 2018 TI - Genotype-Phenotype Association Study Reveals CFI-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis. PG - 51-56 LID - 10.1080/09273948.2016.1178305 [doi] AB - PURPOSE: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. METHODS: A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors. RESULTS: A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status. CONCLUSIONS: This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU. FAU - Huang, Xiu-Feng AU - Huang XF AD - a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China. FAU - Lin, Dan AU - Lin D AD - a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China. FAU - Lin, Keng-Hung AU - Lin KH AD - b Department of Ophthalmology , Taichung Veterans General Hospital, National Yang-Ming University , Taichung , Taiwan , China. FAU - Lee, Shi-Huang AU - Lee SH AD - b Department of Ophthalmology , Taichung Veterans General Hospital, National Yang-Ming University , Taichung , Taiwan , China. FAU - Xia, Xiaoru AU - Xia X AD - c Department of Rheumatology , The First Affiliated Hospital of Wenzhou Medical University , Wenzhou , China. FAU - Yang, Yi-Mai AU - Yang YM AD - d Wenzhou People's Hospital, Wenzhou Physical Examination Center. FAU - Zhu, Xue-Fei AU - Zhu XF AD - e Department of Ophthalmology , The First Affiliated Hospital of Soochow University. FAU - Wang, Yu-Lin AU - Wang YL AD - f The department of ophthalmology , The First Affiliated Hospital of Nanchang University , Nanchang , China. FAU - Dai, Ma-Li AU - Dai ML AD - a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China. FAU - Wang, Qing-Feng AU - Wang QF AD - a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China. FAU - Jin, Zi-Bing AU - Jin ZB AD - a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China. FAU - Wang, Yuqin AU - Wang Y AD - a The Eye Hospital of Wenzhou Medical University, the State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health , Wenzhou , China. LA - eng PT - Journal Article DEP - 20160705 PL - England TA - Ocul Immunol Inflamm JT - Ocular immunology and inflammation JID - 9312169 RN - 0 (Genetic Markers) RN - 0 (HLA-B27 Antigen) RN - EC 3.4.21.45 (CFI protein, human) RN - EC 3.4.21.45 (Complement Factor I) SB - IM MH - Acute Disease MH - Adult MH - Case-Control Studies MH - Complement Factor I/*genetics MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - Genetic Markers/*genetics MH - Genotyping Techniques MH - HLA-B27 Antigen/genetics MH - Humans MH - Male MH - Middle Aged MH - Polymerase Chain Reaction MH - *Polymorphism, Single Nucleotide MH - Uveitis, Anterior/*genetics OTO - NOTNLM OT - Acute anterior uveitis OT - CFI OT - association analysis OT - genotype-phenotype association OT - polymorphisms EDAT- 2016/07/06 06:00 MHDA- 2018/08/28 06:00 CRDT- 2016/07/06 06:00 PHST- 2016/07/06 06:00 [pubmed] PHST- 2018/08/28 06:00 [medline] PHST- 2016/07/06 06:00 [entrez] AID - 10.1080/09273948.2016.1178305 [doi] PST - ppublish SO - Ocul Immunol Inflamm. 2018;26(1):51-56. doi: 10.1080/09273948.2016.1178305. Epub 2016 Jul 5.