Genetic burden in multiple sclerosis families

Vincenzina Lo Re, Guillot-Noel, Isobe, Pappas, Alastair Compston, Damotte, Rebeix, Stephen Sawcer, Vincenzina Lo Re, Fontaine, Gourraud, Cozen, Oksenberg, Mack, Hauser, Ban

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    28 Citations (Scopus)


    A previous study using cumulative genetic risk estimations in multiple sclerosis (MS) successfully tracked the aggregation ofsusceptibility variants in multi-case and single-case families. It used a limited description of susceptibility loci available at the time(17 loci). Even though the full roster of MS risk genes remains unavailable, we estimated the genetic burden in MS families andassess its disease predictive power using up to 64 single-nucleotide polymorphism (SNP) markers according to the most recentliterature. A total of 708 controls, 3251 MS patients and their relatives, as well as 117 twin pairs were genotyped. We validatedthe increased aggregation of genetic burden in multi-case compared with single-case families (P¼4.14e03) and confirm thatthese data offer little opportunity to accurately predict MS, even within sibships (area under receiver operating characteristic(AUROC)¼0.59 (0.55, 0.53)). Our results also suggest that the primary progressive and relapsing-type forms of MS share a commongenetic architecture (P¼0.368; difference being limited to that corresponding to ±2 typical MS-associated SNPs). We haveconfirmed the properties of individual genetic risk score in MS. Comparing with previous reference point for MS genetics (17 SNPs),we underlined the corrective consequences of the integration of the new findings from GWAS and meta-analysis.
    Original languageEnglish
    Pages (from-to)434-440
    Number of pages7
    JournalGenes and Immunity
    Publication statusPublished - 2013

    All Science Journal Classification (ASJC) codes

    • Immunology
    • Genetics
    • Genetics(clinical)

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