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Extended major histocompatibility complex haplotypes in patients with gluten-sensitive enteropathy
The Journal of Clinical Investigation
|January 1, 1987
Summary
Major histocompatibility complex (MHC) markers reveal two extended haplotypes strongly associated with gluten-sensitive enteropathy. Heterozygote advantage for HLA-DR3 and HLA-DR7 suggests modifying genetic factors in disease susceptibility.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Gluten-sensitive enteropathy (celiac disease) has known associations with specific human leukocyte antigen (HLA) markers.
- The genetic basis and specific HLA associations require further elucidation.
Purpose of the Study:
- To investigate major histocompatibility complex (MHC) markers in Caucasian patients with gluten-sensitive enteropathy and their families.
- To identify extended haplotypes and their frequencies in patients versus controls.
- To determine the inheritance pattern of MHC-linked susceptibility genes.
Main Methods:
- Studied MHC markers in patients and families using extended haplotype analysis.
- Compared frequencies of specific HLA-B, DR, BF, C2, C4A, and C4B allelic combinations.
- Analyzed homozygote and heterozygote distributions for HLA-DR3 and HLA-DR7.
Main Results:
- Over 50% of patient chromosomes carried two specific extended haplotypes: [HLA-B8, DR3, SC01] and [HLA-B44, DR7, FC31].
- These haplotypes, along with nonextended HLA-DR7, explained previously observed HLA markers (HLA-B8, DR3, DR7).
- Distribution of HLA-DR3 and HLA-DR7 suggested recessive inheritance, but heterozygote excess indicated modifying phenomena.
Conclusions:
- Two extended haplotypes are highly prevalent in gluten-sensitive enteropathy patients.
- The inheritance pattern suggests a major MHC-linked susceptibility gene with potential modifying factors.
- Further research into heterozygote advantage and modifying phenomena is warranted.
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