Biomaterial Database

HLA-DQ associations in type 1 autoimmune hepatitis. 1995

A J Czaja, and P J Santrach, and S B Moore

Division of Gastroenterology and Internal Medicine, Mayo Clinic Rochester, MN 55905, USA.

OBJECTIVE To determine whether, in patients with type 1 autoimmune hepatitis and human leukocyte antigen (HLA) DR3 and DR4 positivity, any DQ antigen is disease-specific. METHODS HLA class II typing was performed by restriction fragment length polymorphism in 103 patients with type 1 autoimmune hepatitis, 104 patients with chronic viral hepatitis, and 80 normal subjects. A shared association with a disease-specific DQ antigen was sought in patients with HLA-DR3, DR4, and DR3-DR4. RESULTS Patients with HLA-DR3 and DR4 shared positivity for DQ2, DQ4, DQ5, DQ6, and DQ7, but the associations reflected established linkages or were of low frequency. Patients heterozygous for DR3-DR4 or homozygous for either DR3 or DR4 did not have a shared DQ antigen. Only the DR3-DQ2 haplotype distinguished patients with autoimmune hepatitis from normal subjects or those with chronic viral hepatitis. CONCLUSIONS The DR3 and DR4 antigens are not associated with a single disease-specific DQ antigen in type 1 autoimmune hepatitis. The DR3-DQ2 haplotype is the principal risk factor for the disease at our referral center. Analyses by restriction fragment length polymorphism do not implicate a single susceptibility gene at the DQ locus.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
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
D002908	Chronic Disease	Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care (Dictionary of Health Services Management, 2d ed). For epidemiological studies chronic disease often includes HEART DISEASES; STROKE; CANCER; and diabetes (DIABETES MELLITUS, TYPE 2).	Chronic Condition,Chronic Illness,Chronically Ill,Chronic Conditions,Chronic Diseases,Chronic Illnesses,Condition, Chronic,Disease, Chronic,Illness, Chronic
D005260	Female		Females
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
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
D006505	Hepatitis	INFLAMMATION of the LIVER.	Hepatitides
D006525	Hepatitis, Viral, Human	INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D).	Viral Hepatitis, Human,Human Viral Hepatitides,Human Viral Hepatitis,Viral Hepatitides, Human