Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency

Topaloglu R., Bakkaloglu A., Slingsby J., Aydintug O., Besbas N., Saatci U., ...More

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.18, no.1, pp.75-77, 2000 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 1
  • Publication Date: 2000
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.75-77
  • Hacettepe University Affiliated: Yes


Objective Hereditary C1q deficiency is a rare disease and up to now only 41 cases have been reported. Since all but 3 cases developed SLE or SLE-like disease, C1q deficiency represents the most powerful disease susceptibility gene identified for the development of SLE in humans. A molecular defect in homozygous C1q deficiency has been identified in 13 families. Four of these families are Turkish in origin and they all share the same mutation which is a CAG to TAG change at codon 186 in the A chain. This led us to investigate whether this mutation might be found in Turkish SLE patients and whether it could cause increased disease susceptibility when expressed in the heterozygous form.