Clinical Expression of Systemic Lupus Erythematosus in Patients with C4A Deficiency

Petri, Michelle; Watson, Rosemarie; Winkelstein, Jerry A.; McLean, Robert H.

doi:10.1097/00005792-199307000-00003

Cited by 69 publications

(39 citation statements)

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“…The C4A null allele (C4A*Q0) is associated with almost every SLE population studied to date. 9,15,[57][58][59] Petri et al 60 observed a significant increase in the C4A null allele among SLE patients versus controls in both African-American (61% vs 13%, P Ͻ 0.001) and European-American (43% vs 25%, P Ͻ 0.01) populations. A significant increase of the C4B null allele (C4B*Q0) in lupus patients has been demonstrated in a Spanish SLE population (OR: 6.0).…”

Section: Complement Componentsmentioning

confidence: 99%

“…62 However, C4A allelic associations with SLE have been noted in some populations without observing an association with HLA-DR3, thereby providing evidence that C4 may have an effect that is independent of HLA. 60,61,[63][64][65] The most frequent homozygous complement deficiency in humans is that of C2. 66 C2 deficiency, however, only affects approximately 0.01% of the general population.…”

Section: Complement Componentsmentioning

confidence: 99%

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The genetics of systemic lupus erythematosus: putting the pieces together

2002

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Section: Complement Componentsmentioning

confidence: 99%

Section: Complement Componentsmentioning

confidence: 99%

The genetics of systemic lupus erythematosus: putting the pieces together

2002

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“…Complete deficiency of the early components C1q, C2 and C4 of the classical pathway of complement are associated with a most striking risk to developing SLE [31][32][33][34][35][36][37][38][39][40][41][42][43]. Deficiency of C4A, so called C4Anull, is probably the most commonly inherited complement deficiency, occurring in varying frequency in different populations [44].…”

Section: Studies Of Candidate Genesmentioning

confidence: 99%

The Genetics of Systemic Lupus Erythematosus

Lindqvist

Alarcón‐Riquelme

1999

Scand J Immunol

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Lindqvist AKB, Alarcón-Riquelme ME. The Genetics of Systemic Lupus Erythematosus. Scand J Immunol 1999;50:562-571. There is considerable evidence that the development of systemic lupus erythematosus (SLE) has a strong genetic basis. For more than 20 years, much effort has been made to understand the genetics of SLE. Association studies in humans suggest the existence of genetic effects by the alleles encoded in the HLA, deficiencies in the complement genes and the low-affinity variants of Fc␥-receptors. In mouse models of SLE at least 13 loci have been identified, including the MHC, linked to lupus-related phenotypes such as nephritis and production of autoantibodies. Recently, linkage studies have been performed in human SLE; one investigating a candidate region based on synteny to a murine susceptibility locus and four genome-wide linkage studies in various populations. Linkage was demonstrated to several chromosomal regions, some of which are syntenic to murine lupus susceptibility loci. Interestingly, many of the identified chromosomal regions co-localise with loci implicated in other autoimmune diseases.

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“…However, patients in the Hopkins Lupus Cohort who were homozygous for C4A deficiency had a lower frequency of aCL and LA than patients without this deficiency [74][75][76]. Other less consistent non-familial HLA associations with APS include DRB1*04, DQB1*0301/4, DQB1*0604/5/6/7/8/9, DQA1*0102 and DQA1*0301/2 [73,[77][78][79].…”

Section: Genetics Of Apsmentioning

confidence: 99%