Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children.

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-08-04 DOI:10.1055/s-0040-1714697

Ivan Y Bakutenko, Irena D Hileuskaya, Natalia V Nikitchenko, Elena V Sechko, Alexej M Tchitchko, Galina M Batyan, Alexander V Sukalo, Nadezhda I Ryabokon

引用次数: 0

Abstract

The study aimed to assess the involvement of three proteasomal genes, PSMA6 , PSMC6 , and PSMA3 , in autoimmune pathogenesis by analyzing associations between single nucleotide polymorphisms and systemic rheumatic diseases with a different autoimmune component: juvenile idiopathic arthritis (JIA), the juvenile form of systemic lupus erythematosus, and Kawasaki's disease (KD). Our results showed that the PSMA6 (rs1048990) polymorphism can be a risk factor for JIA (false discovery rate q ≤ 0.090), while PSMA3 (rs2348071) has a tendency to be nonspecific and is shared with JIA and other autoimmune diseases, including KD, an illness with very low autoimmune activity and high autoinflammation.

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蛋白酶体基因的多态性可能是儿童患全身性自身免疫性疾病的风险因素之一

该研究旨在通过分析单核苷酸多态性与具有不同自身免疫成分的系统性风湿性疾病（幼年特发性关节炎（JIA）、幼年型系统性红斑狼疮和川崎病（KD））之间的关联，评估PSMA6、PSMC6和PSMA3这三个蛋白酶体基因参与自身免疫发病机制的情况。我们的研究结果表明，PSMA6（rs1048990）多态性可能是JIA的一个风险因素（假发现率q≤0.090），而PSMA3（rs2348071）具有非特异性倾向，与JIA和其他自身免疫性疾病（包括KD，一种自身免疫活性很低而自身炎症很高的疾病）共有。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.