Association of the neonatal Fc receptor promoter variable number of tandem repeat polymorphism with immunoglobulin response in patients with chronic inflammatory demyelinating polyneuropathy

  • \(\textbf {Background and purpose:}\) Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disease with humoral and cellular autoimmunity causing demyelination of peripheral nerves, commonly treated with intravenous immunoglobulins (IVIg). The neonatal Fc receptor (FcRn), encoded by the \(\it FCGRT\) gene, prevents the degradation of immunoglobulin G (IgG) by recycling circulating IgG. A variable number of tandem repeat (VNTR) polymorphism in the promoter region of the \(\it FCGRT\) gene is associated with different expression levels of mRNA and protein. Thus, patients with genotypes associated with relatively low FcRn expression may show a poorer treatment response to IVIg due to increased IVIg degradation. \(\bf Methods:\) VNTR genotypes were analyzed in 144 patients with CIDP. Patients' clinical data, including neurological scores and treatment data, were collected as part of the Immune-Mediated Neuropathies Biobank registry. \(\bf Results:\) Most patients (\(\it n\) = 124, 86%) were VNTR 3/3 homozygotes, and 20 patients (14%) were VNTR 2/3 heterozygotes. Both VNTR 3/3 and VNTR 2/3 genotype groups showed no difference in clinical disability and immunoglobulin dosage. However, patients with a VNTR 2 allele were more likely to receive subcutaneous immunoglobulins (SCIg) than patients homozygous for the VNTR 3 allele (25% vs. 9.7%, \(\it p\) = 0.02) and were more likely to receive second-line therapy (75% vs. 54%, \(\it p\) = 0.05). \(\bf Conclusions:\) The VNTR 2/3 genotype is associated with the administration of SCIg, possibly reflecting a greater benefit from SCIg due to more constant immunoglobulin levels without lower IVIg levels between the treatment circles. Also, the greater need for second-line treatment in VNTR 2/3 patients could be an indirect sign of a lower response to immunoglobulins.

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Author:Anna Lena FisseORCiDGND, Emelie SchäferGND, Alina HiekeORCiDGND, Maximilian SchröderGND, Rafael Mattias KlimasORCiDGND, Jil BrüngerORCiDGND, Sophie HuckemannGND, Thomas GrüterORCiDGND, Melissa SgodzaiGND, Christiane Schneider-GoldORCiDGND, Ralf GoldORCiDGND, Huu Phuc NguyenORCiDGND, Kalliopi PitarokoiliORCiDGND, Jeremias MotteORCiDGND, Larissa ArningORCiDGND
Parent Title (English):European journal of neurology
Place of publication:Oxford
Document Type:Article
Date of Publication (online):2024/04/08
Date of first Publication:2024/01/11
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
Efgartigimod; FCGRT; Fc gamma receptor and transporter; genetic variation; immunoglobulin receptor
Issue:4, Article e16205
First Page:e16205-1
Last Page:e16205-7
Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum.
Institutes/Facilities:St. Josef-Hospital Bochum, Neurologische Klinik
Dewey Decimal Classification:Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit
open_access (DINI-Set):open_access
Licence (English):License LogoCreative Commons - CC BY-NC 4.0 - Attribution-NonCommercial 4.0 International