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Background: Researches demonstrated that the intraocular pressure of patients with metabolic syndrome is elevated, and the incidence of ocular hypertension is related to the degree of myopia. It is well known that metabolic syndrome, intraocular pressure and high myopia are all associated with genetic factor. Objective: The present protocol was to analyze the single nucleotide polymorphisms (SNP) of metabolic syndrome-related genes in primary open-angle glaucoma (POAG) with pathological myopia patients in order to elucidate the roles of metabolic syndrome and pathological myopia as risk factors in POAG development. Methods: SNP genotypes and alleles of interleukin-6 (IL-6), IL-6 receptor (IL-6R), dopamine D(2) receptor (DRD(2)), beta-fibrinogen (FGB), peroxisome proliferator-activated receptor- (gamma)(2) (PPARG-(gamma)(2)), transforming growth factor-(beta)(1) (TGF-(beta)(1)), E-selectin (E-Se1), apolipoprotein A-5 (APOA-5), C-reactive protein (CRP), ectonueleotide pyrophosphatase/ phosphodiesterase 1 (ENPP-1), hepatic lipase (LIPC), adiponectin (ADIPOQ), paraoxonase 1 (PON1) and serine protease inhibitor E (SERPINE-1) genes in POAG (n = 24), POAG with pathological myopia (n = 13), and normal control (n = 100) groups were detected with ABI Prism 7900HT Fluorescence Quantitative PCR and TaqMan SNP Genotyping fluorescence probe kit. The research procedure was carried out in accordance with the Declaration of Helsinki. Written informed consent was obtained from all study subjects. Results: The allele frequencies of E-Se1, APOA-5, LIPC, ADIPOQ, PON-1, SERPINE1 in the recruited individuals were similar to those of Asia. Genotypes and allele frequencies of IL6R, IL6, FGB, CRP, ENPP-1, LIPC, ADIPOQ, PON-1, and SERPINE-1 in POAG patients were significantly different in comparison to the control subjects (P < 0.05), and the OR value of IL-6, FGB, CRP, ENPP-1, LIPC, ADIPOQ were > 2.5. The genotypes and allele frequencies of IL-6R, IL6 and were significantly different between POAG with pathological myopia group and normal control group ((chi)(2) = 5.48, P < 0.05). The genotypes and allele frequencies of IL6 and CRP, and allele frequencies of FGB as well as genotype of ADIPOQ were all different between POAG group and normal control group ((chi)(2) = 3.79, P = 0.04) . Conclusion: Metabolic syndrome and pathological myopia as risk factors of POAG may be associated with genotypes and allele frequencies of the related genes. The corresponding gene expression and function affect progression of POAG, including roles of E-Se1 and SERPINE1 in extracellular matrix, ENPP-1 in insulin inhibition, IL6 in endogenous neuroprotection, IL6 me, ADIPOQ in NOS/NO production, PON-1 in vascular endothelial protection, IL6R, and E-Se1 in autoimmune response, LIPC and FGB in blood hyperviscosity syndrome. LA: Chinese
G. Zhou. Department of Ophthalmology, 12nd People's Hospital of Guangzhou, Guangzhou 510620, China. kenzhou777@yahoo.com.cn
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
8.1 Myopia (Part of: 8 Refractive errors in relation to glaucoma)