January 1, 2000Journal of Internal Medicine
Angiotensin converting enzyme (ACE) gene polymorphism in sarcoidosis in relation to associated autoimmune diseases
Key result
The ACE DD genotype was significantly increased in sarcoidosis patients with autoimmune manifestations and major granuloma mass compared to those with isolated sarcoidosis (P=0.035).
Population
62 patients with documented sarcoidosis and 107 healthy unrelated subjects without sarcoidosis.
Design
Case-control
Authors
Discussion
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Implication
ACE DD genotype may flag sarcoidosis patients for autoimmune risk; leaves open whether genotyping improves outcomes or warrants testing.
Key Points
- To evaluate the relationship between the angiotensin converting enzyme (ACE) insertion/deletion gene polymorphism and the development of autoimmune manifestations in patients with sarcoidosis.
- Analyzed 62 patients with sarcoidosis in Sweden (30 with autoimmune manifestations and 32 with isolated sarcoidosis) alongside 107 healthy controls.
- Genotyped the ACE insertion/deletion (I/D) polymorphism using polymerase chain reaction (PCR) on genomic DNA and quantified serum ACE levels across clinical subgroups.
- Serum ACE levels were significantly higher in sarcoidosis patients than controls (P = 0.00001) and higher in sarcoidosis with autoimmunity than in isolated sarcoidosis (P = 0.0328).
- Serum ACE concentrations followed the genotype order II < ID < DD across both patients and controls.
- Among patients with autoimmune manifestations, the DD genotype was significantly over-represented in X-ray stage III relative to other stages (P = 0.0181) and compared to isolated sarcoidosis at stage III (P = 0.035).
Study Design
Type
Case-Control (n=169)
Multicenter
No
Structured PICO
P
Population
62 patients with sarcoidosis and 107 healthy controls evaluated for ACE gene I/D polymorphism and autoimmune manifestations.
O
Outcome
Association between ACE gene I/D polymorphism and frequency of autoimmune manifestations in sarcoidosissurrogate
Main Result
p-value: p=0.035
The ACE DD genotype and higher S-ACE levels are associated with autoimmune manifestations in patients with sarcoidosis, particularly those with major granuloma mass.
Cite This Study
Papadopoulos et al. (2000) conducted a case-control in Sarcoidosis (n=169). ACE gene insertion/deletion (I/D) polymorphism vs. Healthy controls and isolated sarcoidosis was evaluated on Frequency of autoimmune manifestations and S-ACE levels (p=0.035). The ACE DD genotype was significantly increased in sarcoidosis patients with autoimmune manifestations and major granuloma mass compared to those with isolated sarcoidosis (P=0.035).