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. 2017;34(2):104-114.
doi: 10.36141/svdld.v34i2.5504. Epub 2017 Apr 28.

ACE gene variants and sarcoidosis in a Finnish population

Elisa Lahtela  1 , Annika Wennerström  1 , Anne Pietinalho  2 , Martin Petrek  3 , Vitezslav Kolek  4 , Marja-Liisa Lokki  1 , Olof Selroos  5
Affiliations

ACE gene variants and sarcoidosis in a Finnish population

Elisa Lahtela et al. Sarcoidosis Vasc Diffuse Lung Dis. 2017.

Abstract

Background: Sarcoidosis is a systemic inflammatory disease with unknown etiology. However, there is a strong evidence of genetic influence in sarcoidosis. Objectives: We wanted to extend our knowledge of the role of the whole ACE gene, not only insertion/deletion (I/D) polymorphism, in a Finnish sarcoidosis population by genotyping the ACE gene region from 5' upstream to the 3' downstream. Methods: We genotyped 29 single nucleotide polymorphisms (SNPs) spanning the ACE gene from 188 sarcoidosis patients (resolved disease, n=90; persistent disease, n=98) and from 150 controls. These SNPs included tag SNP rs4343 for I/D polymorphism. To replicate the study we genotyped 11 of these SNPs from 139 Czech sarcoidosis patients (resolved disease, n=47; persistent disease, n=92) and 176 healthy controls. Results: No association was detected between I/D genotypes and disease susceptibility or prognosis. We found a novel SNP (rs9905945) in the 5'upstream region of the ACE gene to be moderately associated with favourable disease prognosis in Finnish patients [p=0.035, OR=2.034 (95%CI 1.045-3.960)]. However, in the replication study in Czechs, the SNP rs9905945 did not show association with prognosis of sarcoidosis. Conclusions: This study further characterizes genetic distinctions between Finnish sarcoidosis patients with different prognosis and population-specific genotype distribution of ACE variants. Nevertheless it seems that variants in the ACE gene do not considerably influence the course of the disease in Finnish sarcoidosis patients. (Sarcoidosis Vasc Diffuse Lung Dis 2017; 34: 104-114).

Keywords: angiotensin converting enzyme (ACE); insertion/deletion (I/D) polymorphism; prognosis; sarcoidosis; single nucleotide polymorphism (SNP).

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Figures

Fig. 1.
Fig. 1.
Frequency (%) of the elevated S-ACE activity (y axis) in relation to insertion/deletion polymorphism genotypes (II, ID, DD) in Finnish resolved and persistent sarcoidosis patients. *χ2: 43.3% vs. 13.0%, p=0.037, OR=5.10 (95%CI 1.24-20.93)
Fig. 2.
Fig. 2.
Pairwise linkage disequilibrium (r2) pattern of 23 single nucleotide polymorphisms (SNPs) in the ACE gene region in Finnish sarcoidosis patients with resolved and persistent sarcoidosis, respectively
Supplementary Fig 1.
Supplementary Fig 1.
Pairwise linkage disequilibrium (r2) pattern of 7 replicated single nucleotide polymorphisms (SNPs) in the ACE gene region in Czech sarcoidosis patients with resolved and persistent sarcoidosis, respectively
See this image and copyright information in PMC

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