title: Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes.
abstract: The contribution of genetic heterogeneity to the pathogenesis of multifocal motor neuropathy (MMN) has not been elucidated. We investigated frequencies of single nucleotide polymorphisms (SNPs) in the candidate genes protein tyrosine phosphatase, non-receptor type 22 (PTPN22), B-cell scaffold protein with ankyrin repeats (BANK1), B lymphocyte kinase (Blk), and Fc gamma receptor class IIB (FCGR2B), which have been found to be associated with other autoimmune diseases, CD1A and CD1E, important for antigen presentation of glycolipids, and transient axonal glycoprotein 1 (TAG-1), which is associated with responsiveness to intravenous immunoglobulin in patients with chronic inflammatory demyelinating polyneuropathy. SNP frequencies were determined by means of TaqMan SNP genotyping assay and direct sequencing of candidate genes in 92 Dutch patients with MMN and 1152 healthy controls. SNP frequencies did not differ between patients and controls (all p-values >0.15) and disease characteristics were not associated with SNP genotypes. Our results suggest that allelic variation in these genes does not play a major role in determining MMN susceptibility.
authors: Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands.
authors: Lotte
authors: L
authors: Vlam
authors: Elisabeth A
authors: EA
authors: Cats
authors: Meinie
authors: M
authors: Seelen
authors: Paul W J
authors: PW
authors: van Vught
authors: Leonard H
authors: LH
authors: van den Berg
authors: W-Ludo
authors: WL
authors: van der Pol
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D000368:Aged; D018949:Antigens, CD1 / Q000235:genetics; D058969:Contactin 2 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011115:Polyneuropathies / Q000235:genetics* / Q000276:immunology*; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D017452:Receptors, IgG / Q000235:genetics; D019061:src-Family Kinases / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018949:Antigens, CD1; C447641:BANK1 protein, human; C419393:CD1a antigen; C417738:CD1e antigen; C548674:CNTN2 protein, human; D058969:Contactin 2; C499173:FCGR2B protein, human; D008565:Membrane Proteins; D017452:Receptors, IgG; C082599:protein-tyrosine kinase p55(blk); D019061:src-Family Kinases; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22