ERAP1基因多态性与牛皮癣有关

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2022-02-01 DOI:10.1016/j.mgene.2021.100995

Weiwei Chen , Liang Yong , Huiyao Ge , Qiongqiong Xu , Qi Zhen , Bao Li , Yafen Yu , Jing Wu , Xiaodong Zheng , Jinping Gao , Bo Liang , Hui Cheng , Liangdan Sun , Wenjun Wang

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引用次数: 1

摘要

据报道，ERAP1基因的几种多态性与几种不同人群的牛皮癣有关。目的了解ERAP1基因与中国汉族银屑病的关系。方法对中国汉族5414例患者和5556例对照者进行ERAP1基因7个snp (rs27044、rs27043、rs26510、rs469758、rs30378、rs30186和rs2303208)基因分型。结果外显子组、靶向测序和复制数据综合分析，有6个SNP达到全基因组显著性，其中最显著SNP为rs27044 (PRep = 9.92× 10−9,PMeta = 4.05× 10−20)。进一步的单倍型分析鉴定出11种与银屑病相关的单倍型，其中2种最显著的单倍型GCCACT (P = 7.09 × 10−23)和AGTGGC (P = 3.95 × 10−22)仅在银屑病病例中发现。此外，2个相关单倍型在病例组和对照组中都很常见，其中ACTGCT具有保护作用(P = 9.64 × 10−10,OR = 0.84)， GGCAGC具有风险作用(P = 1.38 × 10−3,OR = 1.10)。结论本研究进一步揭示了ERAP1基因在银屑病发病机制中的重要作用，其单倍型组合将为银屑病的发病预测提供潜在的信息。

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Polymorphisms in ERAP1 gene are associated with psoriasis

Background

Several polymorphisms in ERAP1 gene has been reported to be associated with psoriasis in several different populations.

Objective

To better understand the association between ERAP1 and psoriasis in Chinese Han population.

Methods

Seven SNPs (rs27044, rs27043, rs26510, rs469758, rs30378, rs30186 and rs2303208) in ERAP1 gene were genotyped in an independent cohort of 5414 patients and 5556 controls in the Chinese Han population.

Results

Six SNPs reached the genome wide significance in the combined analysis of exome, targeted sequencing and replication data with the most significant SNP as rs27044 (P_Rep = 9.92× 10⁻⁹, P_Meta = 4.05× 10⁻²⁰). Further haplotype analysis identified 11 haplotypes associated with psoriasis, in which the 2 most significant haplotypes, GCCACT (P = 7.09 × 10⁻²³) and AGTGGC (P = 3.95 × 10⁻²²) were found only in psoriatic cases. Moreover, 2 associated haplotypes were both common in both case and control cohorts, in which ACTGCT showed protective effect (P = 9.64 × 10⁻¹⁰, OR = 0.84) and GGCAGC showed risk effect (P = 1.38 × 10⁻³, OR = 1.10).

Conclusion

Our study further reveals the important roles of ERAP1 gene in the pathogenesis of psoriasis, The combination of the haplotypes will be potentially useful in providing information for determining the prediction for the development of psoriasis.

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.