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Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11.
Eur J Hum Genet. 2002 Apr; 10(4):271-5.EJ

Abstract

Multiple sclerosis (MS) is a chronic inflammatory disease resulting in demyelination in the central nervous system (CNS). Increasing evidence supports that genetic factors confer susceptibility to MS. One locus, the HLA complex (6p21), has been identified as important in MS, but no other loci have been clearly implicated, neither by a candidate gene approach, nor by a genomic screen strategy. Here, we studied a genetically isolated population in the northern-most part of Sweden, which demonstrates a high incidence of MS, using haplotype sharing analysis. Genealogical analysis demonstrated that 22 MS patients originate from a single common ancestral couple in the eighteenth century. Five affected individuals from four nuclear families were selected for an initial genomic screen with 390 microsatellite markers. Seven shared haplotypes in six different chromosomal regions were observed. After genotyping for these haplotypes with the same and additional markers in 15 MS patients and healthy relatives, some portion of a conserved haplotype spanning 10 cM at 17p11 was found to be shared by 12 of 15 affected individuals. The statistical analysis revealed a significant excess of transmission of alleles of three markers to affected individuals (P<0.05) by the transmission/disequilibrium test (TDT). An identical four-marker haplotype was shared by six of 15 patients (40%; P<0.01). Surprisingly, DR-typing revealed no significant sharing of the HLA region. In conclusion, our data suggests a novel susceptibility gene for MS in chromosome 17p11.

Authors+Show Affiliations

Division of Neurology, Huddinge University Hospital, Karolinska Institute, Sweden.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12032736

Citation

He, Bing, et al. "Sharing of a Conserved Haplotype Suggests a Susceptibility Gene for Multiple Sclerosis at Chromosome 17p11." European Journal of Human Genetics : EJHG, vol. 10, no. 4, 2002, pp. 271-5.
He B, Giedraitis V, Ligers A, et al. Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11. Eur J Hum Genet. 2002;10(4):271-5.
He, B., Giedraitis, V., Ligers, A., Binzer, M., Andersen, P. M., Forsgren, L., Sandkuijl, L. A., & Hillert, J. (2002). Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11. European Journal of Human Genetics : EJHG, 10(4), 271-5.
He B, et al. Sharing of a Conserved Haplotype Suggests a Susceptibility Gene for Multiple Sclerosis at Chromosome 17p11. Eur J Hum Genet. 2002;10(4):271-5. PubMed PMID: 12032736.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sharing of a conserved haplotype suggests a susceptibility gene for multiple sclerosis at chromosome 17p11. AU - He,Bing, AU - Giedraitis,Vilmantas, AU - Ligers,Arturs, AU - Binzer,Michael, AU - Andersen,Peter M, AU - Forsgren,Lars, AU - Sandkuijl,Lodewijk A, AU - Hillert,Jan, PY - 2001/11/15/received PY - 2002/02/25/revised PY - 2002/03/01/accepted PY - 2002/5/29/pubmed PY - 2002/10/9/medline PY - 2002/5/29/entrez SP - 271 EP - 5 JF - European journal of human genetics : EJHG JO - Eur. J. Hum. Genet. VL - 10 IS - 4 N2 - Multiple sclerosis (MS) is a chronic inflammatory disease resulting in demyelination in the central nervous system (CNS). Increasing evidence supports that genetic factors confer susceptibility to MS. One locus, the HLA complex (6p21), has been identified as important in MS, but no other loci have been clearly implicated, neither by a candidate gene approach, nor by a genomic screen strategy. Here, we studied a genetically isolated population in the northern-most part of Sweden, which demonstrates a high incidence of MS, using haplotype sharing analysis. Genealogical analysis demonstrated that 22 MS patients originate from a single common ancestral couple in the eighteenth century. Five affected individuals from four nuclear families were selected for an initial genomic screen with 390 microsatellite markers. Seven shared haplotypes in six different chromosomal regions were observed. After genotyping for these haplotypes with the same and additional markers in 15 MS patients and healthy relatives, some portion of a conserved haplotype spanning 10 cM at 17p11 was found to be shared by 12 of 15 affected individuals. The statistical analysis revealed a significant excess of transmission of alleles of three markers to affected individuals (P<0.05) by the transmission/disequilibrium test (TDT). An identical four-marker haplotype was shared by six of 15 patients (40%; P<0.01). Surprisingly, DR-typing revealed no significant sharing of the HLA region. In conclusion, our data suggests a novel susceptibility gene for MS in chromosome 17p11. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/12032736/Sharing_of_a_conserved_haplotype_suggests_a_susceptibility_gene_for_multiple_sclerosis_at_chromosome_17p11_ L2 - http://dx.doi.org/10.1038/sj.ejhg.5200802 DB - PRIME DP - Unbound Medicine ER -