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Multiple sclerosis in families: risk factors beyond known genetic polymorphisms

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Abstract

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system that predominantly affects young adults. The genetic contributions to this multifactorial disease were underscored by genome wide association studies and independent replication studies. A weighted genetic risk score (wGRS) was recently established using the identified MS risk loci in order to predict MS outcome including clinical and paraclinical features. Here, we present the results on a family with several affected siblings including a monozygotic triplet. The individuals were genotyped for 57 non-MHC risk loci as well as the HLA DRB1*1501 tagging SNP rs3135388 with subsequent calculation of the wGRS. Additionally, SNP array based analyses for aberrant chromosomal regions were performed for all individuals.

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Acknowledgments

We thank the Faculty of Medicine of the Ruhr-University-Bochum for the financial support (FoRUM reference number F762N-2012).

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Authors and Affiliations

  1. Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany

    Denis A. Akkad, Kathrin Bruch, Jörg T. Epplen & Sabine Hoffjan

  2. Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany

    De-Hyung Lee & Ralf A. Linker

  3. Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany

    Aiden Haghikia

  4. Fakultät für Gesundheit, Universität Witten/Herdecke, Witten, Germany

    Jörg T. Epplen

Authors
  1. Denis A. Akkad
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  2. De-Hyung Lee
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  3. Kathrin Bruch
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  4. Aiden Haghikia
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  5. Jörg T. Epplen
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  6. Sabine Hoffjan
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  7. Ralf A. Linker
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Corresponding author

Correspondence to Ralf A. Linker.

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Conflict of interest

Dr. Akkad, Dr. Lee, Ms. Bruch, Dr. Haghikia, Dr. Epplen, and Dr. Hoffjan report no disclosures. Dr. Linker holds an endowed professorship supported by the Novartis Foundation.

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Akkad, D.A., Lee, DH., Bruch, K. et al. Multiple sclerosis in families: risk factors beyond known genetic polymorphisms. Neurogenetics 17, 131–135 (2016). https://doi.org/10.1007/s10048-016-0474-4

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  • DOI: https://doi.org/10.1007/s10048-016-0474-4

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