• Am. J. Respir. Crit. Care Med. · Nov 1998

    Comparative Study

    Angiotensin-converting enzyme gene polymorphism and risk of sarcoidosis.

    • M J Maliarik, B A Rybicki, E Malvitz, R G Sheffer, M Major, J Popovich, and M C Iannuzzi.
    • Division of Pulmonary and Critical Care Medicine and Department of Biostatistics and Research Epidemiology, Henry Ford Health System, Detroit, Michigan, USA.
    • Am. J. Respir. Crit. Care Med. 1998 Nov 1; 158 (5 Pt 1): 156615701566-70.

    AbstractThe angiotensin-converting enzyme (ACE) has been implicated in the pathophysiology of sarcoidosis. Serum ACE levels in normal and sarcoidosis patients are influenced by an insertion (I)/deletion (D) polymorphism in the ACE gene. To elucidate the role of this ACE gene polymorphism in sarcoidosis, we conducted a case-control study in African Americans and Caucasians. The ACE gene (I/D) polymorphism did not differ between 60 Caucasian cases and 48 control subjects (p = 0.577). In contrast, a comparison of 183 African-American cases and 111 control subjects resulted in a marked difference in genotypic distributions (p = 0.005). In African Americans, the risk for sarcoidosis was 1.30 (95% confidence interval [CI] = 0.72 to 2. 36) for ID heterozygotes, and 3.17 (95% CI = 1.50 to 6.71) for deletion/deletion (DD) homozygotes. The risk associated with the DD homozygotes was even greater in African Americans when cases were restricted to those with a positive family history (odds ratio = 4. 83; 95% CI = 1.86 to 12.59). Further analyses of African-American cases showed that the ACE genotype was not associated with disease severity, extrathoracic involvement, or overall radiographic change 2 to 4 yr after diagnosis. We did find a moderate association between the II genotype and radiographic progression (OR = 2.97; 95% CI = 1.01 to 8.76). Our results suggest the ACE genotype may play a more important role in sarcoidosis susceptibility and progression in African Americans than Caucasians.

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