Almost all complement component 9 (C9) deficiency in Japan shows Arg95Stop mutation of C9 gene. Therefore, we studied the prevalence of Arg95Stop mutation of C9 gene among 78 patients with SLE to elucidate the association of SLE and C9 deficiency. The Arg95Stop carrier frequency showed no significant difference between SLE patients and controls. Thus, C9 deficiency is not implicated in SLE susceptibility.
1 Johnston RB Jr . Disorders of the complement system. In: Stiehm ER (ed.). Immunologic Disorders in Infants & Children.4th edn.WB Saunders: Philadelphia , 1996, pp. 490-509.
2.
2 Hayama K , Sugai N , Tanaka S et al. High-incidence of C9 deficiency throughout Japan: there are no significant differences in incidence among eight areas of Japan . Int Arch Allergy Appl Immunol1989; 90: 400-404 .
3.
3 Sugimoto M , Nishikai M , Sato A et al. SLE-like and sicca symptoms in late component (C9) complement deficiency . Ann Rheum Dis1987; 46: 153-155 .
4.
4 Kawai T , Katoh K , Narita M , Tani K , Okubo T . Deficiency of the 9th component of complement (C9) in a patient with systemic lupus erythematosus . J Rheumatol1989; 16: 542-543 .
5.
5 Takeda I , Igarashi S , Nishimaki T , Kasukawa R . A case of systemic lupus erythematosus in late component (C9) complement deficiency . Ryumachi1994; 34: 628-632 .
6.
6 Kira R , Ihara K , Takada H , Gondo K , Hara T . Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency . Hum Genet1998; 102: 605-610 .
7.
7 Horiuchi T , Nishizaka H , Kojima T et al. A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese . J Immunol1998; 160: 1509-1513 .
8.
8 Kira R , Ihara K , Watanabe K et al. Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan . J Hum Genet1999; 44: 109-111 .
9.
9 Tau EM , Cohen AS , Fries JF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus . Arthritis Rheum1982; 25: 1271-1277 .
10.
10 Nagata M , Hara T , Aoki T et al. Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis . J Pediatr1989; 114: 260-264 .