Prevalence of the Type I Complement C2 Deficiency Gene in Swedish Systemic Lupus Erythematosus Patients

Abstract

The prevalence of type I complement C2 deficiency in Swedish systemic lupus erythematosus (SLE) patients was investigated by DNA analysis. The characteristic 28 base pair deletion was determined by polymerase chain reaction analysis followed by gel electrophoresis. Five of the 86 patients (5.8%) retrieved from a defined population of 160 000 individuals were heterozygous for the C2Q0 gene compared with one heterozygote of 100 local blood donors (1%), the difference in prevalence not being significant. Among 26 other SLE patients, two patients who are siblings were C2Q0 homozygous. No distinctive clinical features among the patients with C2Q0 genes were obvious, although none had renal involvement.

Keywords

Complement Complement C2 Complement deficiency Systemic lupus erythematosus

Get full access to this article

View all access options for this article.

References

Lewkonia RM The clinical genetics of lupus. Lupus 1992 ; 1: 55-62.

Alper CA , Raum D. , Karp S. , Awdeh ZL , Yunis EJ Serum complement 'supergenes' of the major histocompatibility complex in man (complotypes). Vox Sang 1983; 45: 62-7.

Colten HR , Rosen FS Complement deficiencies. Ann Rev Immunol 1992 ; 10: 809-34.

Figueroa JE , Densen P. Infectious diseases associated with complement deficiencies. Clin Microbiol Rev 1991; 4: 359-95.

Agnello V. , de Bracco Mme , Kunkel HG Hereditary C2 deficiency with some manifestations of systemic lupus erythematosus . J Immunol 1972; 108: 837-40.

Awdeh ZL , Raum DD , Glass D. et al. Complement-human histocompatibility antigen haplotypes in C2 deficiency. J Clin Invest 1981; 67: 581-3.

Johnson CA , Densen P. , Hurford RK Jr, Colten HR , Wetsel RA Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. J Biol Chem 1992; 13: 9347-53.

Truedsson L. , Alper CA , Awdeh ZL , Johansen P. , Sjöholm AG , Sturfelt G. Characterization of type I complement C2 deficiency MHC haplotypes: strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes. J Immunol 1993 (in press).

Jonsson H. , Nived O. , Sturfelt G. Outcome in systemic lupus erythematosus: a prospective study of patients from a defined population. Medicine (Baltimore) 1989; 68: 141-50.

10.

Maniatis T. , Fritsch EF , Sambrook J. Molecular Cloning: A Laboratory Manual. Cold Spring Harbour, NY, Cold Spring Harbour Laboratory, 1982.

11.

Miller SA , Dykes DD , Polesky HF A simple salting out procedure for extracting DNA from human nucleated cells . Nucleic Acid Res 1988; 16: 1215.

12.

Glass D. , Raum D. , Gibson D. , Stillman JS , Schur PH Inherited deficiency of the second component of complement. Rheumatic disease associations. Clin Invest 1976; 58: 853-61.

13.

Fielder Ahl , Walport MJ , Batchelor JR et al. Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility . Br Med J 1983; 286: 425-8.

14.

Christiansen FT , Zhang WJ , Griffiths M. , Mallal SA , Dawkins RL Major histocompatibility complex (MHC) complement deficiency, ancestral haplotypes and systemic lupus erythematosus (SLE): C4 deficiency explains some but not all of the influence of MHC. J Rheumatol 1991; 18: 1350-8.

15.

Hartung K. , Fontana A. , Klar M. et al. Association of class I, II and III MHC gene products with systemic lupus erythematosus. Results of a central European multicenter study. Rheumatol Int 1989; 9: 13-18.

16.

Sturfelt G. , Truedsson L. , Johansen P. , Jonsson H. , Nived O. , Sjöholm AG Homozygous C4A deficiency in systemic lupus erythematosus: analysis of patients from a defined population. Clin Genet 1990; 38: 427-33.