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埃及类风湿关节炎患者中信号转导与转录激活因子4(STAT4)基因G>T多态性

Signal transducer and activator of transcription 4 (STAT4) G>T gene polymorphism in Egyptian cases with rheumatoid arthritis.

作者信息

Settin Ahmad, Salama Afrah, Elshazli Rami

机构信息

Genetics Unit, Children Hospital, Mansoura University, Mansoura, Egypt.

Department of Biochemistry, Faculty of Science, Tanta University, Tanta, Egypt.

出版信息

Hum Immunol. 2014 Aug;75(8):863-6. doi: 10.1016/j.humimm.2014.06.013. Epub 2014 Jun 28.

Abstract

BACKGROUND

The gene encoding signal transducer and activator of transcription 4 (STAT4) has been reported to be associated with rheumatoid arthritis (RA) in several populations. This work aimed at assessing the association of STAT4 G>T gene polymorphism with the susceptibility, activity and functional disability of RA in Egyptian subjects.

SUBJECTS AND METHODS

This study included 112 unrelated RA Egyptian patients who were compared to 122 healthy unrelated individuals taken from the same locality. For all subjects, DNA was genotyped for STAT4 G>T (rs7574865) polymorphism using the PCR-RFLP technique. Antibodies to cyclic citrullinated peptides (anti-CCP) were measured by enzyme-linked immunosorbent assay (ELISA).

RESULTS

Cases showed a significantly higher frequency of the STAT4 T allele carriage (GT+TT genotypes) compared to controls (51.8% vs. 31.1%, OR = 2.37, 95% CI = 1.39-4.05, p = 0.001). Also the frequency of the STAT4 T allele was significantly higher among cases compared to controls (30.4% vs. 16.8%, OR = 2.16, 95% CI = 1.39-3.35, p = 0.001). Cases positive to the STAT4 T allele (GT+TT genotypes) showed no significant difference compared to those with the GG genotype regarding their clinical and immune parameters. Nonetheless, they showed a more functional disability presented in their significantly higher health assessment questionnaire (HAQ) score (p = 0.02).

CONCLUSIONS

This study gives an extra evidence to the association of the STAT4 T allele with the susceptibility and functional disability of RA.

摘要

背景

据报道,编码信号转导子和转录激活子4(STAT4)的基因在多个人群中与类风湿性关节炎(RA)相关。这项研究旨在评估埃及人群中STAT4基因G>T多态性与RA易感性、疾病活动度及功能残疾之间的关联。

对象与方法

本研究纳入了112例无亲缘关系的埃及RA患者,并与来自同一地区的122名无亲缘关系的健康个体进行比较。对所有受试者,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对STAT4基因G>T(rs7574865)多态性进行基因分型。采用酶联免疫吸附测定(ELISA)法检测抗环瓜氨酸肽抗体(抗CCP)。

结果

与对照组相比,病例组中STAT4基因T等位基因携带频率(GT+TT基因型)显著更高(51.8%对31.1%,比值比(OR)=2.37,95%可信区间(CI)=1.39-4.05,p=0.001)。病例组中STAT4基因T等位基因频率也显著高于对照组(30.4%对16.8%,OR=2.16,95%CI=1.39-3.35,p=0.001)。携带STAT4基因T等位基因(GT+TT基因型)的病例组与GG基因型病例组相比,其临床和免疫参数无显著差异。然而,他们在健康评估问卷(HAQ)得分上显示出更高的功能残疾(p=0.02)。

结论

本研究进一步证明了STAT4基因T等位基因与RA易感性及功能残疾之间的关联。

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