C4A gene deletion: association with Graves' disease.

Abstract	The association of HLA class I and class II antigens, particularly HLA-B8,DR3, with a variety of autoimmune diseases has been well documented. The C4AQ0 (non-expressed C4A) allele which is in linkage disequilibrium with HLA-B8,DR3 has also been reported to be associated with systemic lupus erythematosus, insulin-dependent diabetes mellitus and Graves' disease. However, the number of studies has been limited by the requirement of family data for the assignment of the C4AQ0 allele based on C4 protein typing. Recently, with the availability of a C4 cDNA probe, a C4A gene deletion associated with HLA-B8,DR3 has been reported in normal individuals. We have tried to resolve the problem of assigning the C4AQ0 allele by using both phenotypic and genotypic approaches and have determined the significance of the C4AQ0 allele in 80 unrelated patients with Graves' disease and in 50 normal control subjects. Our results demonstrate a strong association of the C4AQ0 allele with Graves' disease (56 versus 26%; P less than 0.002, relative risk = 3.7) and in particular in association with HLA-B8 and/or DR3 (92 versus 70.6%; P less than 0.04) when compared with normal controls. All the C4AQ0 alleles that were associated with HLA-B8 and/or DR3 were due to a C4A gene deletion. Of the C4AQ0 alleles, in Graves' disease, 94% (compared with 82% in the control group) could be detected by C4 DNA analysis using either TaqI or EcoRI restriction endonucleases. It is suggested that a combination of C4 protein typing with C4 DNA analysis is the best approach for the determination of the C4AQ0 allele in unrelated individuals without access to family data.
Authors	S Ratanachaiyavong, L Lloyd, A M McGregor
Journal	Journal of molecular endocrinology (J Mol Endocrinol) Vol. 3 Issue 2 Pg. 145-53 (Sep 1989) ISSN: 0952-5041 [Print] England
PMID	2570594 (Publication Type: Journal Article)
Chemical References	Complement C4 HLA-B Antigens HLA-B8 Antigen HLA-DR Antigens Complement C4a
Topics	Alleles Blotting, Southern Chromosome Deletion Complement C4 (genetics) Complement C4a Female Genotype Graves Disease (genetics) HLA-B Antigens (genetics) HLA-B8 Antigen HLA-DR Antigens (genetics) Humans Male Phenotype Polymorphism, Restriction Fragment Length Restriction Mapping

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