Km. Kaufman et al., Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletionpolymorphism and systemic lupus erythematosus, MOL C ENDOC, 177(1-2), 2001, pp. 81-85
Previous studies have suggested an association between systemic lupus eryth
ematosus (SLE) and an insertion/deletion polymorphism in the angiotensin-co
nverting enzyme gene (ACE). This polymorphism consists of a 250-bp insertio
n/deletion of an alu repeat in the 16th intron of the ACE gene. Individuals
homozygous for the deletion have a higher level of circulating enzyme. Due
to the important role of this enzyme in regulating the renin-angiotensin a
nd kallikrein-kininogen systems, it is possible that the ACE insertion/dele
tion may play a role in SLE, which can include vasculitis and vascular chan
ges. Using primers flanking the insertion/deletion site, we have examined t
he ACE gene in lupus patients and family members using genomic DNA obtained
from the Lupus Multiplex Registry and Repository (LMRR). We were unable to
detect significant linkage or genetic association between the ACE gene and
SLE. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.