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关于银屑病和银屑病关节炎的遗传易感性,我们了解到了什么?

What have we learned about genetic susceptibility in psoriasis and psoriatic arthritis?

作者信息

Eder Lihi, Chandran Vinod, Gladman Dafna D

机构信息

Centre for Prognosis Studies in the Rheumatic Diseases, Toronto Western Hospital, Toronto, Ontario, Canada.

出版信息

Curr Opin Rheumatol. 2015 Jan;27(1):91-8. doi: 10.1097/BOR.0000000000000136.

Abstract

PURPOSE OF REVIEW

To review recent evidence for genetic susceptibility in psoriasis and psoriatic arthritis.

RECENT FINDINGS

Psoriasis and psoriatic arthritis (PsA) have substantive genetic determinants as indicated by their high family aggregation. Psoriasis and PsA share several susceptibility genes; however, other genes, mostly within the major histocompatibility complex (MHC) region, confer an independent risk for PsA. The human leukocyte antigen-C0602 allele confers the highest risk for psoriasis whereas several human leukocyte antigen-B alleles were identified as 'PsA-specific' genes. Fine mapping of the MHC suggests that glutamine at position 45 is an important susceptibility factor for PsA. Additional genes outside of the MHC region were identified as psoriasis susceptibility genes. These genes belong to several proinflammatory pathways and skin barrier mechanisms that play a role in the pathogenesis of psoriatic disease.

SUMMARY

The MHC remains the major susceptibility locus for psoriatic disease. Future studies using next-generation sequencing technologies may reveal novel rare susceptibility genes for this disease.

摘要

综述目的

综述银屑病和银屑病关节炎遗传易感性的最新证据。

最新发现

银屑病和银屑病关节炎(PsA)具有显著的遗传决定因素,其家族聚集性较高即表明了这一点。银屑病和PsA共有多个易感基因;然而,其他基因(大多位于主要组织相容性复合体(MHC)区域内)赋予了PsA独立的发病风险。人类白细胞抗原-C0602等位基因赋予银屑病最高的发病风险,而多个人类白细胞抗原-B等位基因被鉴定为“PsA特异性”基因。MHC的精细定位表明,45位的谷氨酰胺是PsA的一个重要易感因素。MHC区域外的其他基因被鉴定为银屑病易感基因。这些基因属于几个促炎途径和皮肤屏障机制,在银屑病疾病的发病机制中起作用。

总结

MHC仍然是银屑病疾病的主要易感位点。未来使用下一代测序技术的研究可能会揭示该疾病新的罕见易感基因。

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