Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma
10.3969/j.issn.1672-5123.2010.01.008
- VernacularTitle:原发性开角型青光眼的代谢综合征相关基因单核苷酸多态性
- Author:
Gang, ZHOU
;
Bin, LIU
- Publication Type:Journal Article
- Keywords:
primary open angle glaucoma;
metabolic syndrome;
single nucleotide polymorphism
- From:
International Eye Science
2010;10(1):23-29
- CountryChina
- Language:Chinese
-
Abstract:
AIM: To analyze single nucleotide polymorphisms (SNP) of primary open angle glaucoma- and metabolic syndrome-related genes in primary open angle glaucoma (POAG), in order to elucidate the roles of metabolic syndrome as a risk factor in POAG progress.METHODS: SNP genotypes and alleles of interleukin-6 (IL- 6), IL- 6 receptor (IL- 6R), dopamine D2 receptor (DRD2), beta-fibrinogen (FGB), peroxisome proliferator-activated receptor-γ2 (PPARG), transforming growth factor-β1 (TGF-β1), E-selectin (E-Sel), apolipoprotein A-5 (APOA5), C-reactive protein (CRP), ectonueleotide pyrophosphatase/ phosphodiesterase 1 (ENPP1), hepatic lipase (LIPC), adiponectin (ADIPOQ), paraoxonase 1 (PON1) and serine protease inhibitor E (SERPINE1) genes in POAG (n= 37) and normal control (n=100) groups were measured with ABI Prism 7900HT Fluorescence Quantitative PCR and TaqMan SNP Genotyping fluorescence probe kit.RESULTS: Genotypes and allele frequencies of IL- 6R, IL- 6, FGB, CRP, ENPP1, LIPC, ADIPOQ, PON1, and SERPINE1 in total POAG group were significantly different compared to the control group. CONCLUSION: Metabolic syndrome as a risk factor for POAG may be associated with genotypes and allele frequencies of the related genes.The corresponding gene expression and function can affect POAG progress, including roles of SERPINE1 in extracellular matrix, ENPP1 in insulin inhibition, IL- 6 in endogenous neuroprotection, IL- 6, IL- 6R and E-Sel in autoimmune response, LIPC and FGB in blood hyperviscosity syndrome, ADIPOQ in NOS/NO production, PON1 in vascular endothelial protection.
