当前位置: X-MOL 学术BMC Med. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma.
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2020-02-12 , DOI: 10.1186/s12881-020-0969-6
Ghasem Fakhraie 1 , Farshid Parvini 2 , Jalaledin Ghanavi 3 , Shima Saif 3 , Poopak Farnia 3, 4
Affiliation  

BACKGROUND The involvement of cytokines in pathogenesis of pseudoexfoliation syndrome and glaucoma has been demonstrated in several studies. The aim of the present study was to explore the association between three promoter polymorphisms -592C/A (rs1800872), - 819C/T (rs1800871) and -1082A/G (rs1800896) of interleukin 10 (IL-10) gene with susceptibility to pseudoexfoliation syndrome (PEX), pseudoexfoliative glaucoma (PEXG), and primary open-angle glaucoma (POAG). METHODS In this study, 114 PEX, 118 PEXG, 114 POAG patients and 126 healthy individuals from Iranian population were participated. Detailed ophthalmic examinations by an ophthalmologist including slit-lamp bio-microscopic examination, dilated examination of the lens, gonioscopy, and funduscopy were carried out on patients and controls. Genomic DNA was extracted from the blood samples and ARMS-PCR was performed to detect promoter polymorphisms of IL-10. RESULTS In all three SNPs studied, there was a significant difference in the genotype distribution between patients and control subjects. Results revealed that the AA genotype of IL-10 -592C/A SNP is associated with PEX. However, TT genotype of -819C/T and AA genotype of -1082A/G SNP are significantly associated with susceptibility to either PEX or PEXG and POAG disorders. Furthermore, the ACC haplotype containing the IL-10 -1082A allele was associated with PEX (P = 0.02, OR = 5.76, 95% CI = 5.17-24.49), PEXG (P = 0.006, OR = 7.54, 95% CI = 6.62-30.76) and POAG (P = 0.003, OR = 8.11, 95% CI = 7.13-33.15). CONCLUSIONS Our results demonstrated that IL-10 gene promoter polymorphisms are associated with susceptibility to PEX, PEXG and POAG in Iranian population. Considering the fact that IL-10 polymorphisms are associated with various IL-10 expressions, further research is needed to explain its involvement in these disorders and the formation of extracellular fibrillar amyloid deposits in PEX and PEXG.

中文翻译:

IL-10基因启动子多态性与假性剥脱综合征,假性剥脱性和原发性开角型青光眼的易感性相关。

背景技术在一些研究中已经证明了细胞因子参与假性剥脱综合征和青光眼的发病机理。本研究的目的是探讨白介素10(IL-10)基因的三个启动子多态性-592C / A(rs1800872),-819C / T(rs1800871)和-1082A / G(rs1800896)之间的相关性假性剥脱综合征(PEX),假性剥脱性青光眼(PEXG)和原发性开角型青光眼(POAG)。方法本研究共纳入了来自伊朗人群的114名PEX,118名PEXG,114名POAG患者和126名健康个体。由眼科医生对患者和对照者进行了详细的眼科检查,包括裂隙灯生物显微镜检查,晶状体的扩张检查,角膜镜检查和眼底镜检查。从血样中提取基因组DNA,并进行ARMS-PCR检测IL-10的启动子多态性。结果在所有研究的三个SNP中,患者和对照组之间的基因型分布存在显着差异。结果显示,IL-10 -592C / A SNP的AA基因型与PEX相关。但是,-819C / T的TT基因型和-1082A / G SNP的AA基因型与PEX或PEXG和POAG疾病的易感性显着相关。此外,包含IL-10 -1082A等位基因的ACC单倍型与PEX(P = 0.02,OR = 5.76,95%CI = 5.17-24.49),PEXG(P = 0.006,OR = 7.54,95%CI = 6.62)相关。 -30.76)和POAG(P = 0.003,OR = 8.11,95%CI = 7.13-33.15)。结论我们的结果证明IL-10基因启动子多态性与PEX易感性有关,伊朗人口中的PEXG和POAG。考虑到IL-10多态性与各种IL-10表达有关的事实,需要进一步的研究来解释其与这些疾病的关系以及PEX和PEXG中细胞外纤维状淀粉样蛋白沉积物的形成。
更新日期:2020-02-12
down
wechat
bug