title: Multiple sclerosis in families: risk factors beyond known genetic polymorphisms.
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.
authors: Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
authors: Denis A
authors: DA
authors: Akkad
authors: Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany.
authors: De-Hyung
authors: DH
authors: Lee
authors: Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
authors: Kathrin
authors: K
authors: Bruch
authors: Department of Neurology, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany.
authors: Aiden
authors: A
authors: Haghikia
authors: Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.|Fakultät für Gesundheit, Universität Witten/Herdecke, Witten, Germany.
authors: Jörg T
authors: JT
authors: Epplen
authors: Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
authors: Sabine
authors: S
authors: Hoffjan
authors: Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany. ralf.linker@uk-erlangen.de.
authors: Ralf A
authors: RA
authors: Linker
mesh_terms: D002648:Child; D005260:Female; D056426:Genetic Loci; D059811:HLA-DRB1 Chains / Q000235:genetics; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014310:Triplets; D055815:Young Adult
chemical_list: D059811:HLA-DRB1 Chains; C489631:HLA-DRB1*15:01 antigen
keywords: Environmental factor; Familial multiple sclerosis; Neuroinflammation; Weighted genetic risk score