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土耳其主要组织相容性复合体I类链相关基因A和HLA - B等位基因与白塞病的关联

Association of Major Histocompatibility Complex Class I Chain-Related Gene A and HLA-B Alleles with Behçet's Disease in Turkey.

作者信息

Mizuki Nobuko, Meguro Akira, Tohnai Iwai, Gül Ahmet, Ohno Shigeaki, Mizuki Nobuhisa

机构信息

Department of Oral and Maxillofacial Surgery, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

出版信息

Jpn J Ophthalmol. 2007 Nov-Dec;51(6):431-6. doi: 10.1007/s10384-007-0473-y. Epub 2007 Dec 21.

Abstract

PURPOSE

Behçet's disease (BD) is known to be associated with HLA-B51 in many different ethnic groups. Recently, the major histocompatibility complex class I chain-related gene A (MICA), located near the HLA-B gene, has been proposed as a candidate gene for BD susceptibility in several ethnic groups. To compare the relative contribution of MICA polymorphisms and HLA-B51 to BD in different ethnic groups, we studied MICA polymorphisms in Turkish BD patients.

METHODS

Thirty-three Turkish BD patients and 65 healthy controls were enrolled for analysis of polymorphisms in the extracellular domains of MICA.

RESULTS

The phenotype frequencies of MICA009 were significantly higher in BD patients (75.8%) than in controls (29.2%) (P = 0.000015). HLA-B51 was also significantly more frequent in BD patients (81.8%) than in controls (29.2%) (P = 0.0000007). A strong association existed between MICA009 and HLA-B51. To assess the confounding effect of MICA009 on HLA-B51, we performed a stratification analysis that showed that BD was distinctly associated only with HLA-B*51.

CONCLUSION

Our results indicate that the major susceptibility gene for BD is HLA-B51 and that the association between MICA009 and BD arises from a strong linkage disequilibrium with HLA-B51. However, we suggest that MICA009 likely elicits an immune effect secondary to BD.

摘要

目的

已知白塞病(BD)在许多不同种族群体中与HLA - B51相关。最近,位于HLA - B基因附近的主要组织相容性复合体I类链相关基因A(MICA),已被提出作为几个种族群体中BD易感性的候选基因。为了比较MICA多态性和HLA - B51在不同种族群体中对BD的相对贡献,我们研究了土耳其BD患者的MICA多态性。

方法

招募了33名土耳其BD患者和65名健康对照,用于分析MICA细胞外结构域的多态性。

结果

BD患者中MICA009的表型频率(75.8%)显著高于对照组(29.2%)(P = 0.000015)。BD患者中HLA - B51的频率(81.8%)也显著高于对照组(29.2%)(P = 0.0000007)。MICA009与HLA - B51之间存在强关联。为了评估MICA009对HLA - B51的混杂效应,我们进行了分层分析,结果表明BD仅与HLA - B*51明显相关。

结论

我们的结果表明,BD的主要易感基因是HLA - B51,并且MICA009与BD之间的关联源于与HLA - B51的强连锁不平衡。然而,我们认为MICA009可能引发继发于BD的免疫效应。

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