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抗氧化酶 SOD2 和 GSTP1 基因的单核苷酸多态性(SNPs)与埃及儿科人群的 SLE 风险和严重程度的关系。

Single-nucleotide polymorphisms (SNPs) of antioxidant enzymes SOD2 and GSTP1 genes and SLE risk and severity in an Egyptian pediatric population.

机构信息

Department of Clinical Laboratory Sciences, College of Medical Applied Sciences, University of Hafr Al Batin, Hafr Al Batin, Saudi Arabia; Department of Laboratories, Immunology Lab, Mansoura University Children's Hospital, Mansoura, Egypt.

Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

出版信息

Clin Biochem. 2021 Feb;88:37-42. doi: 10.1016/j.clinbiochem.2020.11.010. Epub 2020 Nov 29.

Abstract

BACKGROUND

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with increased oxidative stress that participates in immune dysregulation, and injury resulting in loss of immune tolerance and increased auto-antibody production. This study was designed to investigate the effects of genetic polymorphisms of the antioxidant enzymes genes that code for SOD2 (rs2758332) and GSTP1 (rs1695) on SLE risk and severity in Egyptian children and adolescents cohort from Delta region.

METHODS

The frequencies of these genes polymorphic variants were compared between 100 SLE children and adolescents and 100 healthy control subjects. Single-nucleotide polymorphisms (SNPs) of the two antioxidants were determined using TaqMan SNP genotyping assay.

RESULTS

Individuals with the TT and CT genotypes of rs2758332 in the SOD2 gene were of significant risk for SLE patients (OR = 1.831, 95% CI = 1.082-3.101, P = 0.024) and (OR = 1.864, 95% CI = 1.136-3.059, P = 0.014), respectively. Cases who have combined CT + TT genotype were of significant higher risk of SLE (OR = 1.851, 95% CI = 1.156 - 2.962, P = 0.010). While, they did not show any significant association between SOD2 genotypes or alleles with SLE clinical features. In case of the SNP rs1695 in the GSTP1 gene, no significant associations of genotypes or alleles with SLE risk or with SLE clinical features were detected.

CONCLUSIONS

This study among Egyptian children and adolescents showed a strong association of the SOD2 rs2758332 not GSTP1 rs1695 polymorphism with the risk of SLE disease.

摘要

背景

系统性红斑狼疮(SLE)是一种与氧化应激增加相关的慢性自身免疫性疾病,参与免疫失调和损伤,导致免疫耐受丧失和自身抗体产生增加。本研究旨在探讨编码 SOD2(rs2758332)和 GSTP1(rs1695)的抗氧化酶基因的遗传多态性对埃及儿童和青少年系统性红斑狼疮患者风险和严重程度的影响。

方法

比较 100 例系统性红斑狼疮患儿和青少年与 100 例健康对照组这些基因多态性变异的频率。采用 TaqMan SNP 基因分型检测法检测两种抗氧化剂的单核苷酸多态性(SNP)。

结果

SOD2 基因 rs2758332 的 TT 和 CT 基因型个体患 SLE 的风险显著增加(OR=1.831,95%CI=1.082-3.101,P=0.024)和(OR=1.864,95%CI=1.136-3.059,P=0.014)。具有 CT+TT 复合基因型的病例患 SLE 的风险显著更高(OR=1.851,95%CI=1.156-2.962,P=0.010)。然而,它们没有显示 SOD2 基因型或等位基因与 SLE 临床特征之间存在任何显著关联。在 GSTP1 基因的 SNP rs1695 中,没有检测到基因型或等位基因与 SLE 风险或 SLE 临床特征之间存在显著相关性。

结论

本研究表明,埃及儿童和青少年中 SOD2 rs2758332 而非 GSTP1 rs1695 多态性与 SLE 疾病风险密切相关。

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