PMID- 22065918 OWN - NLM STAT- MEDLINE DCOM- 20120229 LR - 20221207 IS - 1090-0535 (Electronic) IS - 1090-0535 (Linking) VI - 17 DP - 2011 TI - CFH 184G as a genetic risk marker for anterior uveitis in Chinese females. PG - 2655-64 AB - OBJECTIVE: To investigate the association of three single nucleotide polymorphisms (SNPs) in the complement factor H (CFH), KIAA1109, and interleukin-27 (IL-27) genes in patients with anterior uveitis (AU). METHODS: A case-control study was performed in 98 Chinese AU patients and 308 healthy controls. Three SNPs including CFH-rs800292, KIAA1109-rs4505848, and IL27-rs4788084 were detected using TaqMan SNP Genotyping Assays. Analyses were also stratified according to gender, clinical features and human leukocyte antigen (HLA)-B27 status of the patients. RESULTS: No significant association was found between all three SNPs and AU. However, when stratified by gender, there were significant increases in the frequency of the CFH-rs800292 184G allele and GG homozygosity in female patients compared with control subjects (p=0.003 and p=0.009, respectively). Similar association was not detected in males. No significant association was found between AU and KIAA1109-rs4505848 or IL27-rs4788084 even stratified by gender. There was no significant difference in genotypes of AU patients stratified by various clinical features. Subgroup analyses showed that all three SNPs (rs800292, rs4505848, and rs4788084) were not associated with AU in HLA-B27-positive patients, neither in HLA-B27-negative patients. CONCLUSIONS: Our results showed an association between AU and CFH polymorphism in Chinese female patients but not in males, indicating gender-specific genetic differences in CFH. Gender should be considered in genetic studies of anterior uveitis even extending to other immunologic diseases. FAU - Yang, Ming-ming AU - Yang MM AD - Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China. FAU - Lai, Timothy Y Y AU - Lai TY FAU - Tam, Pancy O S AU - Tam PO FAU - Chiang, Sylvia W Y AU - Chiang SW FAU - Chan, Carmen K M AU - Chan CK FAU - Luk, Fiona O J AU - Luk FO FAU - Ng, Tsz Kin AU - Ng TK FAU - Pang, Chi-Pui AU - Pang CP LA - eng PT - Journal Article DEP - 20111013 PL - United States TA - Mol Vis JT - Molecular vision JID - 9605351 RN - 0 (CFH protein, human) RN - 0 (Genetic Markers) RN - 0 (HLA-B27 Antigen) RN - 0 (Interleukin-17) RN - 0 (Nuclear Proteins) RN - 80295-65-4 (Complement Factor H) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Alleles MH - Asian People/*genetics MH - Case-Control Studies MH - Child MH - Complement Factor H/genetics MH - DNA Fingerprinting MH - Female MH - Gene Frequency MH - Genetic Markers MH - Genotype MH - HLA-B27 Antigen/genetics MH - Humans MH - Interleukin-17/*genetics MH - Middle Aged MH - Nuclear Proteins/*genetics MH - Polymorphism, Single Nucleotide MH - Sex Factors MH - Uveitis, Anterior/*genetics PMC - PMC3209418 EDAT- 2011/11/09 06:00 MHDA- 2012/03/01 06:00 PMCR- 2011/01/01 CRDT- 2011/11/09 06:00 PHST- 2011/08/02 00:00 [received] PHST- 2011/09/29 00:00 [accepted] PHST- 2011/11/09 06:00 [entrez] PHST- 2011/11/09 06:00 [pubmed] PHST- 2012/03/01 06:00 [medline] PHST- 2011/01/01 00:00 [pmc-release] AID - 287 [pii] AID - 2011MOLVIS0337 [pii] PST - ppublish SO - Mol Vis. 2011;17:2655-64. Epub 2011 Oct 13.