IRF5 基因多态性与自身免疫性甲状腺疾病无关：一项病例对照研究。IRF5 基因与 AITD。

Lack of association of IRF5 gene polymorphisms with autoimmune thyroid disease: a case-control study. IRF5 gene and AITD.

机构信息

Department of Endocrinology, The First Affiliated Hospital of Medical School of Xi'an Jiaotong University, No. 277 West Yanta Road, 710061 Xi'an, China; Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, 201508 Shanghai, China.

Department of Endocrinology, Jinshan Hospital of Fudan University, No. 1508 Longhang Road, 201508 Shanghai, China.

出版信息

Ann Endocrinol (Paris). 2014 Feb;75(1):19-24. doi: 10.1016/j.ando.2013.12.002. Epub 2014 Feb 26.

DOI:10.1016/j.ando.2013.12.002

PMID:24582590

Abstract

BACKGROUND

Several studies support a link between autoimmunity and interferon regulatory factor 5 (IRF5) gene polymorphisms. We have taken the opportunity to examine association of the autoimmune disease risk gene, the interferon regulatory factor 5 (IRF5) to survey its susceptibility to autoimmune thyroid disease. "A total of 667 patients with autoimmune thyroid diseases and 301 healthy controls were genotyped for rs10954213, rs2004640, rs3807306, rs752637 and rs7808907 of IRF5 gene polymorphisms". We further investigated the association between BANK1 gene and IRF5 gene in AITD patients.

RESULTS

For IRF5 gene, both in allele and genotype frequencies from both GD and HT patients were not significantly different from those of controls. Association between rs7808907C allele and Graves' disease showed trend towards significance (P=0.067). Haplotype results in IRF5 represented in the same block, without significant association. No significant association was found between all IRF5 SNPs and ophthalmopathy in Graves' patients. Additive interaction analysis revealed no interactions between IRF5 and BANK1 gene in AITD patients.

CONCLUSION

Our data fail to reveal IRF5 as a susceptibility gene to AITD and do not support additive effect of IRF5 to BANK1 gene.

摘要

背景

多项研究表明自身免疫与干扰素调节因子 5（IRF5）基因多态性之间存在关联。我们借此机会检测了自身免疫性疾病风险基因干扰素调节因子 5（IRF5）与自身免疫性甲状腺疾病易感性的相关性。“共对 667 例自身免疫性甲状腺疾病患者和 301 例健康对照者的 IRF5 基因多态性 rs10954213、rs2004640、rs3807306、rs752637 和 rs7808907 进行了基因分型”。我们进一步研究了 BANK1 基因与 AITD 患者中 IRF5 基因之间的关联。

结果

对于 IRF5 基因，GD 和 HT 患者的等位基因和基因型频率与对照组均无显著差异。rs7808907C 等位基因与 Graves 病的关联有显著趋势（P=0.067）。IRF5 中的单倍型结果在同一块中表示，没有显著关联。在 Graves 患者中，所有 IRF5SNP 与眼病之间均无显著关联。加性相互作用分析显示，AITD 患者中 IRF5 与 BANK1 基因之间无相互作用。