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一项全基因组关联研究初步探索确定了银屑病患者代谢综合征的新标志物。

A Pilot Genome-Wide Association Study Identifies Novel Markers of Metabolic Syndrome in Patients with Psoriasis.

作者信息

Oh Seung-Min, Kim Su-Kang, Ahn Hye-Jin, Jeong Ki-Heon

机构信息

Department of Dermatology, School of Medicine, Kyung Hee University, Seoul, Korea.

Department of Biomedical Laboratory Science, Catholic Kwandong University, Gangneung, Korea.

出版信息

Ann Dermatol. 2023 Aug;35(4):285-292. doi: 10.5021/ad.22.196.

DOI:10.5021/ad.22.196
PMID:37550229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10407332/
Abstract

BACKGROUND

Recent studies have reported that psoriasis is associated with the development of metabolic syndrome. Genome-wide association studies have been used to discover gene variant markers that occur frequently in case group in relation to specific diseases.

OBJECTIVE

The aim of the present study was to investigate the variants of specific genes involved in metabolic syndrome associated with psoriasis.

METHODS

A total of 95 psoriasis patients were recruited and divided into two groups: one with metabolic syndrome (38 patients) and the other without (57 patients). After genotyping, imputation, and quality checking, the association between the several single nucleotide polymorphisms and metabolic syndrome in psoriasis was tested, followed by gene set enrichment analysis.

RESULTS

We found 76 gene polymorphisms that conferred an increased risk for metabolic syndrome in patients with psoriasis. Four single nucleotide polymorphisms (rs17154774 of , rs77498336 of , rs75949580 and rs187682251 of ) showed the strongest association between metabolic syndrome and psoriasis. The epidermal growth factor receptor protein was located at the center of the protein interactions for the gene polymorphisms.

CONCLUSION

This study identified several previously unknown polymorphisms associated with metabolic syndrome in psoriasis. These results highlight the potential for future genetic studies to elucidate the development, and ultimately prevent the onset, of metabolic syndrome in patients with psoriasis.

摘要

背景

近期研究报道,银屑病与代谢综合征的发生有关。全基因组关联研究已被用于发现与特定疾病相关的、在病例组中频繁出现的基因变异标记。

目的

本研究旨在调查与银屑病相关的代谢综合征所涉及的特定基因的变异情况。

方法

共招募了95例银屑病患者,并将其分为两组:一组患有代谢综合征(38例患者),另一组未患(57例患者)。在进行基因分型、填充和质量检查后,测试了几种单核苷酸多态性与银屑病患者代谢综合征之间的关联,随后进行基因集富集分析。

结果

我们发现76种基因多态性增加了银屑病患者患代谢综合征的风险。四种单核苷酸多态性(……的rs17154774、……的rs77498336、rs75949580和……的rs187682251)显示出代谢综合征与银屑病之间最强的关联。表皮生长因子受体蛋白位于基因多态性的蛋白质相互作用中心。

结论

本研究确定了几种与银屑病患者代谢综合征相关的此前未知的多态性。这些结果凸显了未来基因研究在阐明银屑病患者代谢综合征的发生并最终预防其发病方面的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/0e102eee1358/ad-35-285-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/e29f8068abc4/ad-35-285-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/f964e2abc519/ad-35-285-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/0e102eee1358/ad-35-285-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/e29f8068abc4/ad-35-285-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/f964e2abc519/ad-35-285-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f8a3/10407332/0e102eee1358/ad-35-285-g003.jpg

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