Ruyu Ren, Huiling Tan, Xuean Wang, Li Wang, Bin Yang
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引用次数: 0
摘要
类风湿性关节炎(RA)是一种慢性炎症性疾病,与遗传背景密切相关。研究发现,单核苷酸多态性(SNPs)在类风湿性关节炎的发病中起着重要作用。本研究旨在调查中国西部汉族人群中白细胞介素-23受体(IL23R)和白细胞介素17A(IL17A)的基因多态性与RA易感性之间的联系。通过高分辨熔解分析,对246名RA患者和362名健康对照者的4个SNPs(IL23R基因中的rs6693831 T > C、rs1884444 G > T和rs7517847 T > G,以及IL17A基因中的rs2275913 G > A)进行了基因分型。并对 RA 患者的基因型分布、临床指标、IL-17A 和 IL-23R 水平进行了比较分析。研究发现,IL23R 的 SNP rs6693831 和 rs1884444 与 RA 易感性有显著关联。与基因型TT和等位基因T相比,rs6693831基因型CC和等位基因C在RA组中的频率明显较高,与较高的RA风险相关(OR=7.797,95%置信区间[CI]=4.072-14.932和OR=5.984,95%CI=3.190-11.224)。与 GG 基因型相比,rs1884444 的 TT 基因型似乎会降低 RA 风险(OR = .251,95%CI = .118-.536)。rs6693831的基因型CC和等位基因C以及rs1884444的基因型GG和等位基因G可能是RA的风险因素。IL23R基因多态性可能与中国西部汉族人群的RA易感性风险有关。
Gene polymorphisms of an interleukin-23 receptor associated with susceptibility to rheumatoid arthritis in the Western Chinese Han population
Rheumatoid arthritis (RA) is a chronic inflammatory disease which is closely related to genetic background. Single-nucleotide polymorphisms (SNPs) have been found to play an important role in the development of RA. This study intends to investigate the links between gene polymorphisms in the interleukin-23 receptor (IL23R) and interleukin 17A (IL17A) and susceptibility to RA in the Western Chinese Han population. Four SNPs (rs6693831 T > C, rs1884444 G > T, and rs7517847 T > G in IL23R gene, and rs2275913 G > A in IL17A gene) were genotyped in 246 RA patients and 362 healthy controls by high resolution melting analysis. The comparative analyses among genotype distributions, clinical indicators, and IL-17A and IL-23R levels in RA patients were also performed. The study revealed that the SNP rs6693831 and rs1884444 of IL23R had a significant association with RA susceptibility. The frequencies of rs6693831 genotype CC and allele C were significantly higher in the RA group and associated with higher RA risk compared with genotype TT and allele T (OR = 7.797, 95% confidence interval [CI] = 4.072–14.932 and OR = 5.984, 95%CI = 3.190–11.224, respectively). The TT genotype of rs1884444 appeared to decrease the RA risk compared with the GG genotype (OR = .251, 95%CI = .118–.536). The genotype CC and allele C of rs6693831 and the genotype GG and allele G of rs1884444 may be risk factors for RA. IL23R gene polymorphisms may be involved in the risk of RA susceptibility in the Western Chinese Han population.
期刊介绍:
The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are:
-studies of blood groups and other surface antigens-
cell interactions and immune response-
receptors, antibodies, complement components and cytokines-
polymorphism-
evolution of the organisation, control and function of immune system components-
anthropology and disease associations-
the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies-
All papers are seen by at least two independent referees and only papers of the highest quality are accepted.