PMID- 22509108 OWN - NLM STAT- MEDLINE DCOM- 20120709 LR - 20221207 IS - 1090-0535 (Electronic) IS - 1090-0535 (Linking) VI - 18 DP - 2012 TI - Polymorphism in the TNF-alpha(-863) locus associated with reduced risk of primary open angle glaucoma. PG - 779-85 AB - PURPOSE: Tumor necrosis factor-alpha (TNF-alpha), an important proinflammatory cytokine, exerts a variety of physiologic and pathogenic effects that lead to tissue destruction. Recent laboratory evidence indicates that TNF-alpha have either protective or adverse effects on primary open angle glaucoma (POAG). Inheritance of the TNF-alpha (-863) C allele has been associated with an elevated risk of Alzheimer disease. The neuronal injuries associated with Alzheimer disease have several similarities with the optic nerve changes often seen with POAG. In this study we investigated the possible association between the TNF-alpha (-863) polymorphism and the development of POAG. METHODS: A total of 234 patients with POAG were recruited and compared with 230 healthy controls in a Chinese population. Sequence-specific primers with 3' end mismatches were used to identify the presence of specific allelic variants by polymerase chain reaction (PCR) amplification. Patients and controls were genotyped for the A/C polymorphism at position -863 of the TNF-alpha gene promoter region. RESULTS: The frequency of the TNF-alpha (-863)A allele (22% versus 30%, respectively; p=0.007) and the carriers of the TNF-alpha (-863)A allele (37% versus 48%; p=0.017, OR 0.63, 95% CI 0.44-0.92) were lower in POAG patients compared with those in controls. There is a reduced risk of POAG associated with homozygosity for the TNF-alpha (-863)A allele (AA genotype) compared with that in the control population (AA genotype; 7% versus 11%, respectively, p=0.037; OR 0.5, 95% CI 0.26-0.98). CONCLUSIONS: The TNF-alpha (-863)A allele polymorphism may be a protective factor in the development of POAG. FAU - Wang, Chun-Yuan AU - Wang CY AD - Department of Ophthalmology, Taichung Veterans General Hospital, National Yang-Ming University, Taichung, Taiwan, Republic of China. cywangtw@yahoo.com FAU - Shen, Ying-Cheng AU - Shen YC FAU - Wei, Li-Chen AU - Wei LC FAU - Lin, Keng-Hung AU - Lin KH FAU - Feng, Shih-Chao AU - Feng SC FAU - Yang, Yi-Yin AU - Yang YY FAU - Chiu, Chun-Hung AU - Chiu CH FAU - Tsai, Hin-Yeung AU - Tsai HY LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120331 PL - United States TA - Mol Vis JT - Molecular vision JID - 9605351 RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - Adult MH - Aged MH - Alleles MH - Asian People/*genetics MH - Case-Control Studies MH - Female MH - Gene Frequency MH - Glaucoma, Open-Angle/*genetics MH - Homozygote MH - Humans MH - Male MH - Middle Aged MH - Phenotype MH - Polymerase Chain Reaction MH - *Polymorphism, Single Nucleotide MH - Promoter Regions, Genetic MH - Risk MH - Taiwan MH - Tumor Necrosis Factor-alpha/*genetics PMC - PMC3324355 EDAT- 2012/04/18 06:00 MHDA- 2012/07/10 06:00 PMCR- 2012/01/01 CRDT- 2012/04/18 06:00 PHST- 2012/01/05 00:00 [received] PHST- 2012/03/26 00:00 [accepted] PHST- 2012/04/18 06:00 [entrez] PHST- 2012/04/18 06:00 [pubmed] PHST- 2012/07/10 06:00 [medline] PHST- 2012/01/01 00:00 [pmc-release] AID - 83 [pii] AID - 2012MOLVIS0010 [pii] PST - ppublish SO - Mol Vis. 2012;18:779-85. Epub 2012 Mar 31.