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中国汉族人群中新型易感基因 rs9266150 与寻常型银屑病临床特征的关联。

Association of the novel susceptible locus rs9266150 with clinical features of psoriasis vulgaris in the Chinese Han population.

机构信息

Department of Dermatology, Institute of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.

School of Life Sciences, Anhui Medical University, Hefei, China.

出版信息

Exp Dermatol. 2018 Jul;27(7):748-753. doi: 10.1111/exd.13554.

Abstract

Psoriasis is a chronic multifactorial disease and is considered to be strongly associated with the major histocompatibility complex (MHC) region. We have discovered an independent, novel and susceptible psoriasis risk HLA loci, rs9266150; P = 4.52 × 10 for the first time. In this study, we aimed to verify the relationship between the susceptible locus and the subphenotypes of psoriasis vulgaris (PV), including geographic location, gender, age of onset, family history and present skin lesion types (chronic plaque and guttate). To investigate the distribution and association of the rs9266150 gene with clinical phenotypes of PV in Chinese Han population, we conducted an analysis in case-control and case-only subjects in the 9906 controls and 8744 cases by MHC targeted sequencing stratified analysis in this study. Significant associations were found with a northern geographic location in the case-only (P = 1.97 × 10 ) and the subphenotype-control analyses (P = 5.57 × 10 ), males in the case-only (P = 4.77 × 10 ) and the subphenotype-control analyses (P = 7.31 × 10 ), and guttate psoriasis in the case-only (P = 4.08 × 10 ) and the subphenotype-control analyses (P = 1.27 × 10 ). There were no significant differences observed between the age of onset (OR = 1.062, 95% CI: 0.9725-1.16, P = 1.8 × 10 ) and the family history of psoriasis (OR = 0.981, 95% CI: 0.9048-1.064, P = 6.43 × 10 ). The recessive model provided the best fit for rs9266150 (P = 4.38 × 10 ). Our results implied that rs9266150 might not only play an important role in the development of psoriasis, but also be positively associated with the geographic location, gender and present skin lesion in the Chinese population.

摘要

银屑病是一种慢性多因素疾病,被认为与主要组织相容性复合体(MHC)区域密切相关。我们首次发现了一个独立的、新的、易感的银屑病风险 HLA 基因座 rs9266150;P=4.52×10。在这项研究中,我们旨在验证易感基因座与寻常型银屑病(PV)的亚表型之间的关系,包括地理位置、性别、发病年龄、家族史和当前皮损类型(慢性斑块和点滴状)。为了研究 rs9266150 基因在中国汉族人群中与 PV 临床表型的分布和关联,我们在 9906 名对照和 8744 例病例中进行了病例对照和仅病例的 MHC 靶向测序分层分析。在仅病例和亚表型对照分析中,我们发现 rs9266150 与北方地理位置显著相关(P=1.97×10),与男性显著相关(P=4.77×10),与点滴状银屑病显著相关(P=4.08×10)。在仅病例和亚表型对照分析中,我们发现与发病年龄(OR=1.062,95%CI:0.9725-1.16,P=1.8×10)和银屑病家族史(OR=0.981,95%CI:0.9048-1.064,P=6.43×10)无显著差异。隐性模型为 rs9266150 提供了最佳拟合(P=4.38×10)。我们的研究结果表明,rs9266150 不仅可能在银屑病的发生发展中起重要作用,而且可能与中国人群的地理位置、性别和当前皮损类型呈正相关。

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