中国汉族人群中 IKZF4 基因与脱发症的关联分析

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-10-01
Ying Miao, Sisi Qi, Ruiming Hu, Youyu Sheng, Qinping Yang
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引用次数: 0

摘要

研究目的IKZF4(Ikaros家族锌指4)基因编码属于Ikaros家族的锌指转录因子Eos。Eos在Treg细胞中的高表达对抑制自身免疫反应和免疫平衡非常重要。有研究认为,IKZF4的SNP可能会影响AA(斑秃)的发病机制。本研究旨在探讨中国汉族人群中 IKZF4 多态性与 AA 的关系:方法:我们对 459 例患者和 434 例对照进行了研究。方法:我们对 459 例患者和 434 例对照进行了研究,并通过 HRM 分析和直接测序对 rs1701704 多态性进行了评估:结果:在 AA 患者中,C/C、A/C 和 A/A 基因型的患病率分别为 7.4%、37.5% 和 55.1%。AA 组与对照组的基因型分布和等位基因频率存在明显差异(P < .0001)。AA组中C等位基因的频率明显更高(P < .0001),有家族史的患者中C等位基因和C/C基因型的频率更高(P < .0001; P = .001):结论:IKZF4的rs1701704 SNP可能是评估中国汉族人群AA风险的遗传标记。
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Association analysis of the IKZF4 gene with Alopecia Areata in the Chinese Han population.

Objective: The IKZF4(Ikaros family zinc finger 4) gene encodes Eos, a zinc finger transcription factor that belongs to the Ikaros family. High expression of Eos on Treg cells is important for the suppression of autoimmune responses and immune homeostasis. It has been suggested that the SNP in IKZF4 may influence the pathogenesis of AA(alopecia areata). The purpose of this study was to explore the relationship between IKZF4 polymorphism and AA in the Chinese Han population.

Methods: We examined 459 patients and 434 controls in this study. The rs1701704 polymorphism was evaluated using HRM analysis and direct sequencing.

Results: The prevalence of the C/C, A/C, and A/A genotypes in AA patients was 7.4%, 37.5% and 55.1%, respectively. There were significant differences in genotype distribution and allele frequencies between AA and the control group (P < .0001). The frequency of the C allele in the AA group was significantly higher (P < .0001), and the frequencies of the C allele and C/C genotype in patients with family history were higher (P < .0001; P = .001).

Conclusions: The rs1701704 SNP of IKZF4 may be a genetic marker for assessing the risk of AA in the Chinese Han population.

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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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