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突尼斯南部人群中MICA-TM和HLA-I类基因多态性与葡萄膜炎的关联研究。

Association study of MICA-TM and HLA-class I polymorphism with uveitis in South Tunisian population.

作者信息

Loukil H, Kamoun A, Mahfoudh N, Frikha F, Snoussi M, Gaddour L, Hakim F, Bahloul Z, Makni H

机构信息

Internal Medicine Department, Hédi Chaker hospital, route El Ain, 3000 Sfax, Tunisia.

Immunology Department, Hédi Chaker hospital, route El Ain, 3000 Sfax, Tunisia.

出版信息

Pathol Biol (Paris). 2015 Apr;63(2):101-5. doi: 10.1016/j.patbio.2014.10.007. Epub 2014 Nov 4.

DOI:10.1016/j.patbio.2014.10.007
PMID:25468490
Abstract

BACKGROUND

Uveitis refers to intraocular inflammation. The pattern of uveitis is largely influenced by a multitude of factors including genetic background.

AIM

The purpose of our study was to identify the association between the polymorphism of the transmembrane region of MICA (MICA-TM) and uveitis in Tunisian patients with intraocular inflammation.

PATIENTS AND METHODS

A total of 79 Tunisian patients and 123 healthy controls were enrolled in our study. HLA-class I phenotyping was performed by microlymphocytotoxicity complement dependent and MICA-TM was genotyped by a semiautomatic fluorescent-labelled PCR method, amplicons were analysed on ABI Prism 310 genotyper. Comparisons of allele frequencies between patients and controls, and between patients' subgroups were performed using SPSS 20.0.

RESULTS

In our 79 patients, HLA-B27 showed a significant increased frequency when compared with healthy controls (P=0.003, 7.88 [95% IC=2.17-28.65]). The association was more significant when considering idiopathic anterior uveitis (P=0.00002, OR=11.65 [95% IC=3.06-45.17]). No MICA allele was significantly increased in uveitis groups compared to controls. In the idiopathic uveitis group, MICA-A4 was associated with late age of onset of disease (P=0.04). HLA-B51 and MICA-A6 were associated respectively with severe tyndall (P=0.008) and with the presence of synechiae (P=0.007).

CONCLUSION

Some clinical features of uveitis may be influenced by specific MICA-TM alleles. In our South Tunisian population, MICA plays a disease modifying role, rather than being an important gene in the susceptibility for developing of uveitis.

摘要

背景

葡萄膜炎是指眼内炎症。葡萄膜炎的类型在很大程度上受包括遗传背景在内的多种因素影响。

目的

我们研究的目的是确定突尼斯眼内炎症患者中MICA跨膜区多态性(MICA-TM)与葡萄膜炎之间的关联。

患者与方法

我们的研究共纳入79例突尼斯患者和123例健康对照。通过微量淋巴细胞毒性补体依赖法进行HLA-I类分型,采用半自动荧光标记PCR法对MICA-TM进行基因分型,扩增产物在ABI Prism 310基因分型仪上进行分析。使用SPSS 20.0对患者与对照之间以及患者亚组之间的等位基因频率进行比较。

结果

在我们的79例患者中,与健康对照相比,HLA-B27频率显著增加(P = 0.003,7.88 [95% IC = 2.17 - 28.65])。考虑特发性前葡萄膜炎时,这种关联更为显著(P = 0.00002,OR = 11.65 [95% IC = 3.06 - 45.17])。与对照相比,葡萄膜炎组中没有MICA等位基因显著增加。在特发性葡萄膜炎组中,MICA-A4与疾病发病较晚相关(P = 0.04)。HLA-B51和MICA-A6分别与严重房水混浊(P = 0.008)和虹膜粘连的存在(P = 0.007)相关。

结论

葡萄膜炎的一些临床特征可能受特定MICA-TM等位基因影响。在我们突尼斯南部人群中,MICA起疾病修饰作用,而非葡萄膜炎易感性的重要基因。

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