Biomaterial Database

Multiple sclerosis is associated with genes within or close to the HLA-DR-DQ subregion on a normal DR15,DQ6,Dw2 haplotype. 1993

J Hillert, and O Olerup

Center for BioTechnology, Karolinska Institute, NOVUM, Huddinge, Sweden.

The HLA class II haplotype DR15,DQ6,Dw2 is associated with an increased risk for multiple sclerosis (MS). It has previously been shown that this haplotype extends to the HLA-DQA2 locus but not to the HLA-DP subregion. We report the distribution in 148 MS patients and 158 healthy controls of Taq I restriction fragments of the C4, cytochrome P-21 (CYP21), and HLA-B genes. Approximately 90% of the DR15,DQ6,Dw2 haplotypes extend to the C4/CYP21 loci and 50% to the HLA-B locus, indicated by a significant association of the haplotype with restriction fragments of these loci. However, there was no independent association in MS patients with these genes. This indicates that the susceptibility to MS is coded for by genes within or close to the HLA-DR-DQ subregion. Furthermore, the delineation of the DR15,DQ6,Dw2 haplotype is very similar in MS patients and control subjects. This observation supports the hypothesis that "normal" genes, common to all carriers of the DR15,DQ6,Dw2 haplotype, confer the increased genetic susceptibility to MS associated with this haplotype.

UI	MeSH Term	Description	Entries
D008040	Genetic Linkage	The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.	Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D009103	Multiple Sclerosis	An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)	MS (Multiple Sclerosis),Multiple Sclerosis, Acute Fulminating,Sclerosis, Disseminated,Disseminated Sclerosis,Sclerosis, Multiple
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D005802	Genes, MHC Class II	Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and include H-2M, I-A, and I-E loci in mice.	Class II Genes,Genes, Class II,Genes, HLA Class II,MHC Class II Genes,Class II Gene,Gene, Class II
D006239	Haplotypes	The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.	Haplotype
D006683	HLA-DQ Antigens	A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.	HLA-DC Antigens,HLA-MB Antigens,HLA-DC,HLA-DQ,HLA-DS,HLA-DS Antigens,HLA-LB,HLA-LB Antigens,HLA-MB,Antigens, HLA-DC,Antigens, HLA-DQ,Antigens, HLA-DS,Antigens, HLA-LB,Antigens, HLA-MB,HLA DC Antigens,HLA DQ Antigens,HLA DS Antigens,HLA LB Antigens,HLA MB Antigens
D006684	HLA-DR Antigens	A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.	HLA-DR,Antigens, HLA-DR,HLA DR Antigens
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015139	Blotting, Southern	A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.	Southern Blotting,Blot, Southern,Southern Blot
D015802	HLA-DR2 Antigen	A broad specificity HLA-DR antigen that is associated with HLA-DRB1 CHAINS encoded by DRB101:15 and DRB101:16 alleles.	HLA-DR2,Antigen, HLA-DR2,HLA DR2 Antigen