Evidence of linkage with HLA-DR in DRB1*15-negative families with multiple sclerosis

Am J Hum Genet. 2001 Oct;69(4):900-3. doi: 10.1086/323480. Epub 2001 Aug 22.

Abstract

The importance of the HLA-DR locus to multiple sclerosis (MS) susceptibility was assessed in 542 sib pairs with MS and in their families. By genotyping 1,978 individuals for HLA-DRB1 alleles, we confirmed the well-established association of MS with HLA-DRB1*15 (HLA-DRB1*1501 and HLA-DRB5*0101), by the transmission/disequilibrium test (chi2=138.3; P<.0001). We obtained significant evidence of linkage throughout the whole data set (mlod=4.09; 59.9% sharing). Surprisingly, similar sharing was also observed in 58 families in which both parents lacked the DRB1*15 allele (mlod=1.56; 62.7% sharing; P=.0081). Our findings suggest that the notion that HLA-DRB1*15 is the sole major-histocompatibility-complex determinant of susceptibility in northern-European populations with MS may be incorrect. It remains possible that the association of MS with HLA-DRB1*15 is due to linkage disequilibrium with a nearby locus and/or to the presence of disease-influencing allele(s) in DRB1*15-negative haplotypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Chromosome Mapping
  • Gene Frequency / genetics
  • Genetic Linkage / genetics*
  • Genetic Predisposition to Disease / genetics*
  • HLA-DR Antigens / genetics*
  • HLA-DRB1 Chains
  • Haplotypes / genetics*
  • Humans
  • Linkage Disequilibrium / genetics
  • Multiple Sclerosis / genetics*
  • Nuclear Family

Substances

  • HLA-DR Antigens
  • HLA-DRB1 Chains

Associated data

  • OMIM/142860