白细胞介素-1β（-511 C/T）基因多态性与印度系统性红斑狼疮患者肾脏及血液系统疾病的易感性

Predisposition of IL-1β (-511 C/T) polymorphism to renal and hematologic disorders in Indian SLE patients.

作者信息

Umare Vinod, Pradhan Vandana, Rajadhyaksha Anjali, Ghosh Kanjaksha, Nadkarni Anita

机构信息

National Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, Maharashtra 400012, India.

Department of Rheumatology, King Edward Memorial Hospital, Parel, Mumbai, Maharashtra 400012, India.

出版信息

Gene. 2018 Jan 30;641:41-45. doi: 10.1016/j.gene.2017.10.039. Epub 2017 Oct 12.

DOI:10.1016/j.gene.2017.10.039

PMID:29032148

Abstract

OBJECTIVE

To see the role of IL-1β gene polymorphisms to disease susceptibility in Indian SLE patients.

MATERIALS AND METHODS

This case-control study included 200 SLE patients and 201 controls. Serum levels of IL-1β and anti-C1q antibodies were measured by multiplex immunoassay and ELISA respectively. Genotyping of SNPs in IL-1β (-511C/T and +3954C/T) were performed by PCR-RFLP method. Autoantibody profile was done in 141 SLE patients.

RESULTS

Mean serum levels of IL-1Β were significantly higher (10.9±5.3pg/ml) in patients compared to controls (7.0±2.0pg/ml) (p<0.0001). Similarly, mean levels of IL-1β were significantly elevated among patients with renal and hematologic manifestations. IL-1Β levels were negatively correlated with hemoglobin concentration (r=-0.25, p=0.001). A statistically significant difference was observed for IL-1β -511CC genotypes (OR=2.9, p=0.0068, Pc=0.0136) in patients with Lupus Nephritis (LN) as compared to SLE patients without nephritis. The IL-1β+3954CT genotype (OR=2.0, p=0.0032, Pc=0.0064) and +3954T allele (OR=1.9, p=0.0017, Pc=0.0034) showed significantly higher frequency among patients as compared to controls. Furthermore, the -511C allele showed higher prevalence in patients with renal (OR=1.6, p=0.0335) and hematologic (OR=1.6, p=0.0326) manifestations among SLE patients.

CONCLUSION

IL-1β gene polymorphisms appear to confer susceptibility to the disease in Indian SLE patients.

摘要

目的

探讨白细胞介素-1β（IL-1β）基因多态性在印度系统性红斑狼疮（SLE）患者疾病易感性中的作用。

材料与方法

本病例对照研究纳入200例SLE患者和201例对照。分别采用多重免疫测定法和酶联免疫吸附测定法（ELISA）检测血清IL-1β水平和抗C1q抗体。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对IL-1β基因单核苷酸多态性（SNP）（-511C/T和+3954C/T）进行基因分型。对141例SLE患者进行自身抗体谱分析。

结果

患者血清IL-1β平均水平（10.9±5.3pg/ml）显著高于对照（7.0±2.0pg/ml）（p<0.0001）。同样，有肾脏和血液学表现的患者中IL-1β平均水平显著升高。IL-1β水平与血红蛋白浓度呈负相关（r=-0.25，p=0.001）。与无肾炎的SLE患者相比，狼疮性肾炎（LN）患者中IL-1β -511CC基因型（比值比[OR]=2.9，p=0.0068，校正p值[Pc]=0.0136）存在统计学显著差异。与对照相比，患者中IL-1β +3954CT基因型（OR=2.0，p=0.0032，Pc=0.0064）和+3954T等位基因（OR=1.9，p=0.0017，Pc=0.0034）频率显著更高。此外，-511C等位基因在SLE患者的肾脏（OR=1.6，p=0.0335）和血液学（OR=1.6，p=0.0326）表现患者中患病率更高。