rs10821936 和 rs10994982 基因多态性与青少年系统性红斑狼疮及狼疮性肾炎易感性的关系。
rs10821936 and rs10994982 gene polymorphism and susceptibility to juvenile systemic lupus erythematosus and lupus nephritis.
机构信息
Clinical Immunology Unit, Clinical Pathology Department, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Pediatric Nephrology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
出版信息
Lupus. 2021 Jul;30(8):1226-1232. doi: 10.1177/09612033211010338. Epub 2021 Apr 22.
BACKGROUND
The prevalence of SLE and the spectrum of clinical manifestations vary widely in different races and geographical populations.
OBJECTIVE
To investigate the possible role of rs10821936 and rs10994982 polymorphism as a risk factor for the development of SLE in children (jSLE) and to evaluate their role in relation to clinical manifestations especially lupus nephritis (LN).
METHODS
DNA extraction and Real-time PCR genotyping of rs10821936 and rs10994982 were done for 104 jSLE and 282 healthy controls.
RESULTS
The C allele and C containing genotypes (CC, CT and CC+CT) of rs10821936 were higher in children with SLE (p = 0.009, OR = 1.56, 0.037, OR = 2.35, 0.016, OR = 1.81 and 0.008 OR = 1.88 respectively). rs10994982 alleles, genotypes and haplotypes are not associated with jSLE (p > 0.05). The rs10821936 and rs10994982 genotypes showed non-significant associations with LN, proliferative versus non proliferative and biopsy grades (p > 0.05).
CONCLUSION
rs10821936 SNP may be a susceptibility risk factor for juvenile SLE in the studied cohort of Egyptian children.
背景
SLE 的流行率和临床表现谱在不同种族和地理人群中差异很大。
目的
探讨 rs10821936 和 rs10994982 多态性是否可能作为儿童（jSLE）发生 SLE 的危险因素，并评估其与临床表现（尤其是狼疮肾炎[LN]）的关系。
方法
对 104 例 jSLE 和 282 例健康对照者进行 rs10821936 和 rs10994982 的 DNA 提取和实时 PCR 基因分型。
结果
SLE 患儿 rs10821936 的 C 等位基因和 C 含基因型（CC、CT 和 CC+CT）较高（p=0.009，OR=1.56，0.037，OR=2.35，0.016，OR=1.81，0.008，OR=1.88）。rs10994982 等位基因、基因型和单倍型与 jSLE 无关（p>0.05）。rs10821936 和 rs10994982 基因型与 LN、增殖性与非增殖性和活检分级无显著相关性（p>0.05）。
结论
rs10821936 SNP 可能是埃及儿童研究队列中 jSLE 的易感危险因素。
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