A genome-wide scan in forty large pedigrees with multiple sclerosis

J Hum Genet. 2007;52(12):955-962. doi: 10.1007/s10038-007-0194-6. Epub 2007 Nov 15.

Abstract

The epidemiology of multiple sclerosis suggests that a complex interaction of genes and environment contribute to susceptibility. To enrich for families with large genetic effects and to potentially reduce genetic heterogeneity, we screened a sample of 18,794 probands and identified forty families with four or more affected individuals. Within these 40 families, HLA DRB1*15 was present in 70% of affected individuals; the transmission disequilibrium test showed a significant excess in transmission of DRB1*15 alleles to affected individuals (47 transmitted, 19 untransmitted, chi (2) = 11.9, p = 0.00057). A 10 cM genome scan was performed and analyzed for linkage under a parametric model with heterogeneity. No excess of significant sharing was observed (HLOD > 3.3) in the parametric multipoint analysis. No region exceeded that for marker GATA8A05 with an HLOD = 1.11. Follow-up genotyping with 17 microsatellites revealed a significant two-point parametric HLOD = 3.99 at marker D4S1597. Transmission disequilibrium tests for markers in this candidate region showed no transmission distortion. A scan for variants in a gene adjacent to D4S1597, PALLD, was negative for synonymous or nonsynonymous changes. A final multipoint scan incorporating all microsatellites in the region provided an HLOD = 1.30. The inability to find significant linkage in these highly penetrant families suggests that linkage is not the optimal tool for dissecting the inheritance of MS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Family Health
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome, Human / genetics*
  • Genomics / methods
  • HLA-DR Antigens / genetics
  • HLA-DRB1 Chains
  • Humans
  • Linkage Disequilibrium
  • Lod Score
  • Multiple Sclerosis / epidemiology
  • Multiple Sclerosis / genetics*
  • Pedigree*
  • Penetrance

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains