Angiotensin-Converting Enzyme I/D Polymorphism in Behçet’s Disease

Abstract

Objective: To investigate a potential relationship between I/D polymorphism within intron 16 of the angiotensin-converting enzyme (ACE) gene located on human chromosome 17 and Behçet’s disease. Materials and Methods: Genomic DNA was obtained from 35 Turkish patients diagnosed with Behçet’s disease according to the International Study Group criteria and 150 healthy individuals. Polymerase chain reaction was used to detect the presence of I and D (insertion and deletion) alleles in intron 16 of the ACE gene in these DNA samples. Results: We found differences in ACE I/D polymorphism between Behçet’s disease and healthy controls (χ² = 4.61, d.f. = 1, p = 0.044). In Behçet’s disease patients, the D allele frequency was 84.3% and I allele frequency 15.7%. Conclusion: An association between Behçet’s disease and ACE polymorphism may provide a useful basis for future molecular studies and therapeutic approaches in this complex disease.

Associations between the angiotensin-converting enzyme insertion/deletion polymorphism and susceptibility to vasculitis: a meta-analysis

“…[5][6][7][8][9][10][11][12][13][14][15][16][22][23][24] Three studies were excluded because they did not investigate healthy controls. [22][23][24] Thus, 12 studies met the inclusion criteria.…”

“…[5][6][7][8][9][10][11][12][13][14][15][16] However, published genetic association results for the ACE I/D polymorphism are controversial and inconclusive, [5][6][7][8][9][10][11][12][13][14][15][16] which may be due to small sample sizes, low statistical power, and/or clinical heterogeneity. Therefore, in order to overcome the limitations of individual studies, resolve inconsistencies, and reduce the likelihood that random errors are responsible for false-positive or false-negative associations, 17 we turned to meta-analysis.…”

Association of angiotensin-converting enzyme (ACE) gene insertion–deletion polymorphism with spondylarthropathies

“…Inflammatory back pain or spondylarthropathies include Ankylosing spondylitis (AS), Psoriatic arthritis (PSA), Inflammatory bowel disease associated spondylarthropathies and undifferentiated spondylarthropathies, where genetic factors may contribute to the susceptibility to develop back pain. Recently, the ACE gene insertion/deletion (I/D) polymorphism has been studied in different rheumatic diseases, both in adults and children [8][9][10][11]. Plasma ACE measurements have also been used as diagnostic tools.…”

Athletic Performance and Angiotensin I-Converting Enzyme Gene: Review

“…ADE DD genotipli kişilerin, maxVO 2 gerektiren kısa süreli aerobik dayanıklı-lık sporlarında iyi performans gösterdiği ve yüksek maxVO 2 düzeyine sahip olduğu saptanmıştır. 2,6,28 Fakat, Orysiak ve ark. tarafından kış sporlarına katılan, Polonyalı kadın ve erkek iyi eğitilmiş dayanıklılık sporcularda yapılan çalışmada, ADE genindeki varyasyonunun, aerobik kapasitenin belirleyicisi olmadığı tespit edilmiştir.…”

“…ADE'nin gen ekspresyonu tam olarak bilinmemekle birlikte, doku spesifik olabileceği ileri sü-rülmüştür. 2 İnsanın 17. kromozomunda bulunan ADE geni insersiyon/delesyon (I/D) polimorfizmi, intron 16'da yer alan, 287 baz çifti (bç) büyüklü-ğünde bir DNA parçasının varlığı veya yokluğu ile belirlenmiştir. D allellinin varlığı ile yükselen ADE aktivite seviyesi, bradikinin metabolizmasında önemli bir artışa neden olmaktadır.…”