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ACE I/D genotype influences longitudinal serum ACE activity in sarcoidosis
Henrik Christian Bidstrup Leffers1, Niels Graudal1, Sophine B Krintel1
1Center for Rheumatology and Spine Diseases, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Purpose:
Serum angiotensin-converting enzyme (sACE) is widely used as a biomarker in sarcoidosis, yet interpretation is complicated by genetic variability. We investigated whether ACE insertion/deletion (I/D) genotype influences longitudinal sACE activity and its relationship to clinical manifestations and treatment response.
Methods:
Forty-six patients with confirmed sarcoidosis and available ACE genotype data were included. sACE activity was measured longitudinally and normalized to the assay-specific upper limit of normal (sACE index). Linear mixed modeling assessed genotype-specific trajectories over time. Organ involvement and treatment response were compared across genotypes.
Results:
Genotype distribution was DD (35%), ID (41%), and II (24%). Baseline sACE index showed a descending numerical trend across genotypes but did not differ significantly. Longitudinal modeling demonstrated a significantly steeper decline in sACE index in DD compared with ID and II genotypes (p < 0.001 for interaction). Organ involvement and treatment response did not differ across genotypes.
Conclusion:
ACE I/D genotype influences longitudinal serum ACE activity in sarcoidosis. Genotype-informed interpretation may improve biomarker-based monitoring.
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