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HLA 等位基因多态性在系统性红斑狼疮中的作用:来自印度北部的一项前瞻性研究。

Role of HLA alleles polymorphism in systemic lupus erythematosus: A prospective study from North India.

作者信息

Rana Ranjan S, Naik Bitan, Yadav Mahima, Singh Usha, Singh Anup, Singh Shailja

机构信息

Department of Pathology, Institute of Medical Sciences (IMS), Banaras Hindu University (BHU), Varanasi, Uttar Pradesh, India.

Department of Medicine, Institute of Medical Sciences (IMS), Banaras Hindu University (BHU), Varanasi, Uttar Pradesh, India.

出版信息

Indian J Pathol Microbiol. 2023 Jul-Sep;66(3):545-548. doi: 10.4103/ijpm.ijpm_764_21.

Abstract

BACKGROUND

Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder and has complex etiopathogenesis. The most appropriate hypothesis states that genetic susceptibility in the presence of environmental risk factors predisposes to SLE. HLA class II alleles are critical to immune response and are highly polymorphic. Various alleles in HLA-DR and -DQ regions were analyzed in SLE patients and healthy controls to see their role in susceptibility or protection to SLE.

MATERIALS AND METHODS

This was a prospective observational study, in which a total of 100 SLE patients and 100 controls were analyzed. HLA typing was done by polymerase chain reaction (PCR)-sequence-specific oligonucleotide (SSO) method (SSO probe).

RESULTS

DRβ10301 was significantly increased in SLE patients when compared to controls and had the highest odds ratio. Other risk factor alleles found to be increased were DRβ10701, DQβ10202, and DQβ10301, which had a significant positive association with SLE, suggesting their role in susceptibility to SLE. In contrast, DRβ10401, DRβ11401, DRβ11404, DRβ11501, DQβ10501, and DQα10201 showed statistically significant reduction in SLE patients, while these were much more common in controls, suggesting their protective role.

CONCLUSION

This study is only the second study in patients from North India and it determines the role of DRβ10301, DRβ10701, DQβ10202, and DQβ10301 alleles as risk factors in SLE patients.

摘要

背景

系统性红斑狼疮(SLE)是一种慢性自身免疫性疾病,其发病机制复杂。最恰当的假说是,在存在环境风险因素的情况下,遗传易感性会使人易患SLE。人类白细胞抗原(HLA)II类等位基因对免疫反应至关重要,且具有高度多态性。对SLE患者和健康对照者的HLA - DR和 - DQ区域中的各种等位基因进行了分析,以观察它们在SLE易感性或保护性方面的作用。

材料与方法

这是一项前瞻性观察研究,共分析了100例SLE患者和100例对照者。采用聚合酶链反应(PCR)-序列特异性寡核苷酸(SSO)方法(SSO探针)进行HLA分型。

结果

与对照组相比,SLE患者中DRβ10301显著增加,且比值比最高。其他发现增加的风险因素等位基因有DRβ10701、DQβ10202和DQβ10301,它们与SLE呈显著正相关,表明它们在SLE易感性中起作用。相比之下,DRβ10401、DRβ11401、DRβ11404、DRβ11501、DQβ10501和DQα10201在SLE患者中显示出统计学上的显著降低,而这些在对照组中更为常见,表明它们具有保护作用。

结论

本研究是印度北部患者中的第二项研究,它确定了DRβ1o301、DRβ10701、DQβ10202和DQβ10301等位基因作为SLE患者风险因素的作用。

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