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TRAF1 gene polymorphism correlates with the titre of Gp210 antibody in patients with primary biliary cirrhosis.TRAF1基因多态性与原发性胆汁性肝硬化患者Gp210抗体滴度相关。
Clin Dev Immunol. 2012;2012:487521. doi: 10.1155/2012/487521. Epub 2012 Oct 22.
2
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.全基因组关联研究鉴定出 TNFSF15 和 POU2AF1 是日本人群原发性胆汁性胆管炎的易感基因位点。
Am J Hum Genet. 2012 Oct 5;91(4):721-8. doi: 10.1016/j.ajhg.2012.08.010. Epub 2012 Sep 20.
3
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.密集精细映射研究确定原发性胆汁性胆管炎的新易感位点。
Nat Genet. 2012 Oct;44(10):1137-41. doi: 10.1038/ng.2395. Epub 2012 Sep 9.
4
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.免疫芯片分析鉴定出原发性胆汁性肝硬化在 13q14 上的一个新的风险位点,在四个已确定的风险位点上有多个独立的关联,以及 1p31 和 7q32 风险变异体之间的上位性。
Hum Mol Genet. 2012 Dec 1;21(23):5209-21. doi: 10.1093/hmg/dds359. Epub 2012 Aug 29.
5
Inflammatory and cell-mediated immune biomarkers in myalgic encephalomyelitis/chronic fatigue syndrome and depression: inflammatory markers are higher in myalgic encephalomyelitis/chronic fatigue syndrome than in depression.肌痛性脑脊髓炎/慢性疲劳综合征和抑郁症中的炎症和细胞介导免疫生物标志物:肌痛性脑脊髓炎/慢性疲劳综合征中的炎症标志物高于抑郁症。
Psychother Psychosom. 2012;81(5):286-95. doi: 10.1159/000336803. Epub 2012 Jul 20.
6
Studying associations between variants in TRAF1-C5 and TNFAIP3-OLIG3 and the progression of joint destruction in rheumatoid arthritis in multiple cohorts.在多个队列中研究TRAF1-C5和TNFAIP3-OLIG3基因变异与类风湿关节炎关节破坏进展之间的关联。
Ann Rheum Dis. 2012 Oct;71(10):1753-5. doi: 10.1136/annrheumdis-2012-201289. Epub 2012 May 14.
7
Influence of TRAF1/C5 and STAT4 genes polymorphisms on susceptibility and severity of rheumatoid arthritis in Egyptian population.TRAF1/C5 和 STAT4 基因多态性对埃及人群类风湿关节炎易感性和严重程度的影响。
Cell Immunol. 2012;273(1):67-72. doi: 10.1016/j.cellimm.2011.11.005. Epub 2011 Dec 4.
8
Twin studies in autoimmune disease: genetics, gender and environment.自身免疫性疾病的双胞胎研究:遗传学、性别和环境。
J Autoimmun. 2012 May;38(2-3):J156-69. doi: 10.1016/j.jaut.2011.11.003. Epub 2011 Dec 15.
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Towards common denominators in primary biliary cirrhosis: the role of IL-12.探寻原发性胆汁性肝硬化的共同特征:白细胞介素-12的作用
J Hepatol. 2012 Mar;56(3):731-3. doi: 10.1016/j.jhep.2011.05.040. Epub 2011 Oct 15.
10
Single nucleotide polymorphisms at the TRAF1/C5 locus are associated with rheumatoid arthritis in a Han Chinese population.位于 TRAF1/C5 基因座的单核苷酸多态性与汉族人群的类风湿关节炎相关。
BMC Med Genet. 2011 Apr 14;12:53. doi: 10.1186/1471-2350-12-53.

TRAF1-C5影响原发性胆汁性肝硬化患者的生活质量。

TRAF1-C5 affects quality of life in patients with primary biliary cirrhosis.

作者信息

Raszeja-Wyszomirska Joanna, Wunsch Ewa, Kempinska-Podhorodecka Agnieszka, Smyk Daniel S, Bogdanos Dimitrios P, Milkiewicz Malgorzata, Milkiewicz Piotr

机构信息

Liver Research Laboratories, Pomeranian Medical University, Aleja Powstańców Wielkopolskich 72, 70-111 Szczecin, Poland.

出版信息

Clin Dev Immunol. 2013;2013:510547. doi: 10.1155/2013/510547. Epub 2013 Apr 28.

DOI:10.1155/2013/510547
PMID:23710202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3655458/
Abstract

BACKGROUND

Previous studies reported associations between specific alleles of non-HLA immunoregulatory genes and higher fatigue scores in patients with primary biliary cirrhosis (PBC).

AIM

To study the relationship between variables of health-related quality of life (HRQoL) and single nucleotide polymorphisms of TRAF1-C5, a member of the tumor necrosis factor receptor family.

PATIENTS AND METHODS

TRAF1-C5 gene polymorphisms, rs2900180 and rs3761847, were analysed in 120 Caucasian PBCs. The HRQoL was assessed with SF-36, PBC-40, and PBC-27 questionnaires.

RESULTS

We found a negative association between TT genotype of rs2900180 and SF-36's domains vitality (P < 0.05), mental health (P < 0.05), and mental component summary score (P < 0.05). GG homozygotes of rs3761847 had lower vitality (P < 0.05), mental health (P < 0.05), mental component summary score (P < 0.05) and impairment of social functioning (P < 0.01). Allelic analysis has shown that T allele of rs2900180 and G allele of rs3761847 related to SF-36's vitality (P < 0.05 and P < 0.01), social functioning (P < 0.05 and P < 0.05), mental health (P < 0.01 and P < 0.05), and mental component summary score (P < 0.01 and P < 0.05), respectively. Genotyping and allelic analysis did not reveal correlation with PBC-40 and PBC-27 domains.

CONCLUSION

The association between rs2900180 and rs3761847 polymorphisms and HRQoL variables indicates that TRAF1 is involved in the induction of impaired QoL in PBC.

摘要

背景

既往研究报道,原发性胆汁性肝硬化(PBC)患者中,非HLA免疫调节基因的特定等位基因与较高的疲劳评分相关。

目的

研究肿瘤坏死因子受体家族成员TRAF1 - C5的单核苷酸多态性与健康相关生活质量(HRQoL)变量之间的关系。

患者与方法

对120例白种人PBC患者的TRAF1 - C5基因多态性rs2900180和rs3761847进行分析。采用SF - 36、PBC - 40和PBC - 27问卷评估HRQoL。

结果

我们发现rs2900180的TT基因型与SF - 36的活力领域(P < 0.05)、心理健康(P < 0.05)以及心理成分综合评分(P < 0.05)之间存在负相关。rs3761847的GG纯合子活力较低(P < 0.05)、心理健康较差(P < 0.05)、心理成分综合评分较低(P < 0.05)且社会功能受损(P < 0.01)。等位基因分析表明,rs2900180的T等位基因和rs3761847的G等位基因分别与SF - 36的活力(P < 0.05和P < 0.01)、社会功能(P < 0.05和P < 0.05)、心理健康(P < 0.01和P < 0.05)以及心理成分综合评分(P < 0.01和P < 0.05)相关。基因分型和等位基因分析未显示与PBC - 40和PBC - 27领域存在相关性。

结论

rs2900180和rs3761847多态性与HRQoL变量之间的关联表明,TRAF1参与了PBC患者生活质量受损的诱导过程。