title: CFH 184G as a genetic risk marker for anterior uveitis in Chinese females.
abstract: 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.
authors: Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
authors: Ming-ming
authors: MM
authors: Yang
authors: Timothy Y Y
authors: TY
authors: Lai
authors: Pancy O S
authors: PO
authors: Tam
authors: Sylvia W Y
authors: SW
authors: Chiang
authors: Carmen K M
authors: CK
authors: Chan
authors: Fiona O J
authors: FO
authors: Luk
authors: Tsz Kin
authors: TK
authors: Ng
authors: Chi-Pui
authors: CP
authors: Pang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D017242:Complement Factor H / Q000235:genetics; D016172:DNA Fingerprinting; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D020381:Interleukin-17 / Q000235:genetics*; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors; D014606:Uveitis, Anterior / Q000235:genetics*
chemical_list: C493495:CFH protein, human; D005819:Genetic Markers; D015796:HLA-B27 Antigen; D020381:Interleukin-17; D009687:Nuclear Proteins; D017242:Complement Factor H