Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease
Published on 2018-10-09T12:00:00Z (GMT) by
<p>We read with interest a recent article by Mescheriakova et al.<sup>1</sup> entitled <i>Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family</i>. In this study, the authors described a missense variant in <i>FKBP6</i> (p.R183C, rs147213094) co-segregating with multiple sclerosis (MS) in eight individuals from a large Dutch multi-incident family. Four healthy family members were also found to harbour this mutation, and it was not observed in one family member diagnosed with MS. Reduced penetrance and the presence of phenocopies does not detract from the authors’ claim as familial forms of complex diseases, including MS, frequently are genetically heterogeneous.<sup>2–5</sup> In addition, albeit not statistically significant, the authors reported an elevated minor allele frequency (MAF) for FKBP6 p.R183C in MS patients (1.27%) compared to controls (0.95%), particularly for those with a family history of MS (2.53%).<sup>1</sup></p>
Cite this collection
Vilariño-Güell, Carles; Encarnacion, Mary; Bernales, Cecily Q; Sadovnick, A Dessa (2018): Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease. SAGE Journals. Collection.