Effect of glucocorticoid receptor gene polymorphisms in Guillain-Barre syndrome
Effect of glucocorticoid receptor gene polymorphisms in Guillain-Barre syndrome
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DOI：
10.1111/j.1529-8027.2009.00216.x
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发表时间：
2009-06-01
影响因子：
3.8
通讯作者：
Jacobs, Bart C.
中科院分区：
文献类型：
--
作者：
Dekker, Marieke J. H. J.;van den Akker, Erica L. T.;Jacobs, Bart C.
格林-巴利综合征（GBS）是一种感染后免疫介导的多发性神经根病，其中宿主因素影响疾病易感性和临床病程。糖皮质激素受体（GR）基因的单核苷酸多态性（SNPs）影响对糖皮质激素的敏感性，并与微生物定植和发展自身免疫性疾病的易感性有关。因此，这种遗传变异也可能影响发展GBS的机会。在这项研究中，我们对318名GBS患者和210名对照组进行了GR基因中5个已知SNPs的基因分型。我们可以区分六种不同的GR单倍型，其中两种携带BclI多态性：单倍型1，由BclI的次要等位基因与TthIIII的常见变体组合组成，单倍型2，携带BclI的次要等位基因以及TthIIII的次要等位基因。GR单倍型与GBS的易感性无关。单倍型2的携带者更频繁地出现腹泻，血清抗体GM 1和GD 1a，以及更严重的肌肉无力。单倍型1携带者的预后明显更好。总之，GR单倍型不是GBS的易感因素。然而，携带BclI多态性的次要等位基因的单倍型与GBS的表型和结果相关。
Guillain-Barre syndrome (GBS) is a postinfectious immune-mediated polyneuroradiculopathy in which host factors influence disease susceptibility and clinical course. Single-nucleotide polymorphisms (SNPs) in the glucocorticoid receptor (GR) gene influence the sensitivity to glucocorticoids and are related to both microbial colonization and susceptibility to develop auto-immune disease. This genetic variation may therefore also influence the chance to develop GBS. In this study, we genotyped 318 GBS patients and 210 control subjects for five known SNPs in the GR gene. We could distinguish six different GR haplotypes of which two carried the BclI polymorphism: haplotype 1, which consists of the minor allele of BclI in combination with the common variant of TthIIII and haplotype 2, which carries the minor allele of BclI as well as the minor allele of TthIIII. The GR haplotypes were not related to susceptibility to develop GBS. Carriers of haplotype 2 had more frequently preceding diarrhea, serum antibodies to GM1 and GD1a, and more severe muscle weakness at entry. Haplotype 1 carriers had a significantly better prognosis. In conclusion, GR haplotypes are not a susceptibility factor for GBS. However, haplotypes carrying the minor allele of the BclI polymorphism were related to the phenotype and outcome of GBS.