Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population.

IF 3 3区 医学 Q2 DERMATOLOGY Dermatology Pub Date : 2024-01-01 Epub Date: 2024-05-10 DOI:10.1159/000538805
Kejia Wu, Wanrong Wang, Qianhui Cheng, Duncheng Xiao, Yunxiao Li, Mengyun Chen, Xiaodong Zheng
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Abstract

Introduction: According to the common disease/rare variant hypothesis, it is important to study the role of rare variants in complex diseases. The association of rare variants with psoriasis has been demonstrated, but the association between rare variants and specific clinical subtypes of psoriasis has not been investigated.

Methods: Gene-based and gene-level meta-analyses were performed on data extracted from our previous study data sets (2,483 patients with guttate psoriasis and 8,292 patients with non-guttate psoriasis) for genotyping. Then, haplotype analysis was performed for rare loss-of-function variants located in MED12L, and protein function prediction was performed for MED12L. Gene-based analysis at each stage had a moderate significance threshold (p < 0.05). A χ2 test was then conducted on the three potential genes, and the merged gene-based analysis was used to confirm the results. We also conducted association analysis and meta-analysis for functional variants located on the identified gene.

Results: Through these gene-level analyses, we determined that MED12L is a guttate psoriasis susceptibility gene (p = 9.99 × 10-5), and the single-nucleotide polymorphism with the strongest association was rs199780529 (p_combine = 1 × 10-3, p_meta = 2 × 10-3).

Conclusions: In our study, a guttate psoriasis-specific subtype-associated susceptibility gene was confirmed in a Chinese Han population. These findings contribute to a better genetic understanding of different subtypes of psoriasis.

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罕见的 MED12L 变异与中国汉族人群肠槽型银屑病的易感性有关。
简介根据常见疾病/罕见变异(CDRV)假说,研究罕见变异在复杂疾病中的作用非常重要。罕见变异与银屑病的关系已经得到证实,但罕见变异与银屑病特定临床亚型之间的关系尚未得到研究:方法: 从我们之前的研究数据集(2,483 名鳞屑型银屑病患者和 8,292 名非鳞屑型银屑病患者)中提取的数据进行基因分型,并在此基础上进行基因水平的荟萃分析。然后,对位于 MED12L 的罕见功能缺失变异进行了单倍型分析,并对 MED12L 进行了蛋白质功能预测。每个阶段的基因分析都有一个中等显著性阈值(P < 0.05)。然后对三个潜在基因进行卡方检验,并利用合并的基于基因的分析来确认结果。我们还对已确定基因上的功能变异进行了关联分析和荟萃分析:通过这些基因水平的分析,我们确定 MED12L 是肠槽型银屑病的易感基因(P=9.99x10-5),而关联性最强的单核苷酸多态性(SNP)是 rs199780529(P_combine=1x10-3,P_meta=2x10-3):结论:我们的研究在中国汉族人群中证实了一种肠槽型银屑病特异亚型相关易感基因。这些发现有助于更好地从遗传学角度理解银屑病的不同亚型。
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来源期刊
Dermatology
Dermatology 医学-皮肤病学
CiteScore
6.40
自引率
2.90%
发文量
71
审稿时长
1 months
期刊介绍: Published since 1893, ''Dermatology'' provides a worldwide survey of clinical and investigative dermatology. Original papers report clinical and laboratory findings. In order to inform readers of the implications of recent research, editorials and reviews prepared by invited, internationally recognized scientists are regularly featured. In addition to original papers, the journal publishes rapid communications, short communications, and letters to ''Dermatology''. ''Dermatology'' answers the complete information needs of practitioners concerned with progress in research related to skin, clinical dermatology and therapy. The journal enjoys a high scientific reputation with a continually increasing impact factor and an equally high circulation.
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