Effect of glucocorticoid receptor gene polymorphisms in Guillain-Barré syndrome
Autor(es): Dekker Marieke J H J,van den Akker Erica L T,Koper Jan Willem,Manenschijn Laura,Geleijns Karin,Ruts Liselotte,van Rijs Wouter,Tio-Gillen Anne P,van Doorn Pieter A,Lamberts Steven W J,Jacobs Bart C
Resumo: Guillain-Barré 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.
Palavras-Chave: Auto-immune disease; Glucocorticoid receptor; Guillain-Barre syndrome; Single-nucleotide polymorphism
Imprenta: Journal of the Peripheral Nervous System, v. 14, n. 2, p. 75-83, 2009
Identificador do objeto digital: 10.1111/j.1529-8027.2009.00216.x
Descritores: Guillain-Barre Syndrome - DNA ; Guillain-Barre Syndrome - Pathogenesis ; Guillain-Barre Syndrome - Proteins ; Guillain-Barre Syndrome - Antibodies ; Guillain-Barre Syndrome - Epidemiology
Data de publicação: 2009