Multiple sclerosis in families: risk factors beyond known genetic polymorphisms

作者：Akkad Denis A; Lee De Hyung; Bruch Kathrin; Haghikia Aiden; Epplen Jorg T; Hoffjan Sabine; Linker Ralf A^*

来源：Neurogenetics, 2016, 17(2): 131-135.

DOI：10.1007/s10048-016-0474-4

• Neuroinflammation
• Familial multiple sclerosis
• Weighted genetic risk score
• Environmental factor

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.

• 出版日期2016-4