title: Polymorphism in the IL-1alpha (-889) locus associated with elevated risk of primary open angle glaucoma.
abstract: OBJECTIVE
  Recent laboratory evidence indicates that the inflammatory cytokine, interleukin-1 (IL-1), has either protective or adverse effects on primary open angle glaucoma (POAG). Inheritance of the IL-1alpha (-889) polymorphism (the T allele), previously shown to increase IL-1 production, has been associated with an elevated risk of Alzheimer's disease. The neuronal injuries associated with Alzheimer's disease have a number of similarities with the optic nerve changes often seen with POAG. In this report we have explored the possible association between the IL-1alpha (-889) polymorphism and the development of POAG.
  
  
  METHODS
  Chinese patients with POAG (156) were recruited and compared with 167 healthy chinese controls. Genomic DNA was amplified by polymerase chain reaction, followed by enzymatic restriction fragment length polymorphism technique (PCR-RFLP). Patients and controls were genotyped for the C/T polymorphism at position -889 of the IL-1alpha gene promoter region.
  
  
  RESULTS
  The frequency of the IL-1alpha (-889) T allele (21% versus 13%, respectively; p=0.007) and the carriers of the IL-1alpha (-889) T allele (37% versus 25%; p=0.019, OR 1.76, 95%CI 1.1-2.83) were greater in POAG patients compared with controls. There is a higher risk of POAG associated with homozygosity for the IL-1alpha (-889) T allele (TT genotype) compared with the control population (CC genotype; 5% versus 1%, respectively, p=0.04; OR 5.1, 95% CI 1.19-21.66).
  
  
  CONCLUSIONS
  The IL-1alpha (-889) T allele polymorphism, previously shown to increase IL-1 gene expression, may be a risk factor in the development of POAG.
authors.affiliation: Department of Ophthalmology, Taichung Veterans General Hospital, National Yang-Ming University, Taichung, Taiwan, Republic of China. cywangtw@yahoo.com
authors.forename: Chun-Yuan
authors.initials: CY
authors.lastname: Wang
authors.forename: Ying-Cheng
authors.initials: YC
authors.lastname: Shen
authors.forename: Fai-Yun
authors.initials: FY
authors.lastname: Lo
authors.forename: Chien-Hui
authors.initials: CH
authors.lastname: Su
authors.forename: Shi-Huang
authors.initials: SH
authors.lastname: Lee
authors.forename: Keng-Hung
authors.initials: KH
authors.lastname: Lin
authors.forename: Hin-Yeung
authors.initials: HY
authors.lastname: Tsai
authors.forename: Ni-Wen
authors.initials: NW
authors.lastname: Kuo
authors.forename: Seng-Sheen
authors.initials: SS
authors.lastname: Fan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D044466:Asian People / Q000235:genetics; D003596:Cytosine; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D053582:Interleukin-1alpha / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D013941:Thymine
chemical_list: D053582:Interleukin-1alpha; D003596:Cytosine; D013941:Thymine