中国人群银屑病遗传流行病学研究进展

doi:10.16150/j.1671-2870.2024.06.001

摘要/Abstract

摘要：

1984年，流行病学调查提示，中国银屑病的患病率为0.123%，而2008年在中国6个省市的调查显示，患病率上升至0.47%，相比之下，欧美国家的患病率则在2%~4%之间。银屑病是一种复杂的多基因遗传疾病。31.26%的中国银屑病患者有家族史，先证银屑病患者的一级亲属和二级亲属的银屑病患病率分别为7.24%和0.95%，遗传度分别达67.04%和46.59%，呈现随亲缘系数增加而遗传度降低的趋势。国内外已经发现了100余个银屑病的易感基因位点，许多与免疫系统有关的基因变异也与银屑病的发病有关，中国人群位点约占38%。遗传连锁分析，提示白细胞介素（interleukin, IL）-15基因是中国人银屑病的易感基因；全基因组关联研究（Genome-Wide Association Studies，GWAS）发现多个与银屑病相关的易感基因位点。在多中心和多种族的荟萃分析中，识别出LOC144817、RUNX1 、COG6和TP63基因。中国人群与欧美人群在HLA-I区域的易感基因上表现出不同的等位基因频率。这种遗传异质性提示在不同人群中可能存在不同的发病机制和治疗靶点，研究人员发现了多个具有特定人群效应的易感位点，这进一步强调了在不同人群中开展独立研究的重要性。随着易感基因的不断发现，如何将这些研究成果转化为临床应用，如个体化治疗和药物开发，是未来研究的重要方向。

关键词: 银屑病, 遗传学, 流行病学, 易感基因

Abstract:

In 1984, the epidemiological survey in China suggested that the prevalence of psoriasis was 0.123 %. By 2008, a survey across six provinces and cities in China showed an increase in prevalence rate to 0.47 %. In comparison, the prevalence in European and American countries ranged from 2% to 4%. Psoriasis is a complex multi-gene genetic disease. In China, 31.26 % of psoriasis patients have a family history. The prevalence of psoriasis among first-degree and second-degree relatives of probands is 7.24% and 0.95%, respectively. The heritability is 67.04% for first-degree relatives and 46.59% for second-degree relatives, showing a trend of decreasing heritability with the increase of genetic coefficient. More than 100 susceptibility gene loci of psoriasis have been identified globally, many of which are associated with immune system-related gene variations. Approximately 38% of these loci are found in the Chinese population. Genetic linkage analysis suggests that the interleukin (IL)-15 gene is a susceptibility gene for psoriasis in Chinese individuals. Genome-Wide Association Studies (GWAS) identified multiple susceptibility gene loci associated with psoriasis. The LOC144817, RUNX1, COG6, and TP63 genes were identified in the multi-center and multi-ethnic meta-analysis. Chinese populations exhibit different allele frequencies in the HLA-I region compared to Western populations. This genetic heterogeneity suggested that different pathogenesis and therapeutic targets might exist across different populations. Researchers found multiple susceptibility loci with specific population effects, which further emphasized the importance of independent research in different populations. With the continuous discovery of susceptibility genes, an important future direction of research will be how to translate these findings into clinical applications, such as personalized treatment and drug development.

Key words: Psoriasis, Genetics, Epidemiology, Susceptible genes

中图分类号:

R758.63
R445

陈微微, 孙良丹. 中国人群银屑病遗传流行病学研究进展[J]. 诊断学理论与实践, 2024, 23(06): 561-567.

CHEN Weiwei, SUN Liangdan. Research progress in genetic epidemiology of psoriasis in Chinese population[J]. Journal of Diagnostics Concepts & Practice, 2024, 23(06): 561-567.

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