Polymorphism in the IL-1alpha (-889) locus associated with elevated risk of primary open angle glaucoma.
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.
Wang
Chun-Yuan
CY
Department of Ophthalmology, Taichung Veterans General Hospital, National Yang-Ming University, Taichung, Taiwan, Republic of China. cywangtw@yahoo.com
Shen
Ying-Cheng
YC
Lo
Fai-Yun
FY
Su
Chien-Hui
CH
Lee
Shi-Huang
SH
Lin
Keng-Hung
KH
Tsai
Hin-Yeung
HY
Kuo
Ni-Wen
NW
Fan
Seng-Sheen
SS
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
D053582:Interleukin-1alpha; D003596:Cytosine; D013941:Thymine