Angiotensin-converting enzyme insertion/deletion gene polymorphism is associated with dermatomyositis

Shinjo, Samuel Katsuyuki; Uno, Miyuki; Oba-Shinjo, Sueli Mieko; Marie, Suely Kazue Nagahashi

doi:10.1177/1470320314524995

Cited by 4 publications

(3 citation statements)

References 26 publications

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“…One of the most important ACE polymorphisms is a 287-bp insertion/deletion in intron 16 (ACE I/D), with this angiotensin-ACE I/D genotype associated with plasma, cellular, and tissue ACE levels. Plasma ACE levels are highest in subjects with the DD genotype, followed by subjects with the ID genotype and lowest in subjects with the II genotype [ 30 – 33 ]. According to the above mechanism, we supposed the D allele was thought to be a protective factor against knee OA, because D allele carriers have higher ACE levels and therefore lower bradykinin concentrations, whereas the I allele is considered a risk factor.…”

Section: Introductionmentioning

confidence: 99%

Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism and Susceptibility to Osteoarthritis of the Knee: A Case-Control Study and Meta-Analysis

Lin

Fang

et al. 2016

PLoS ONE

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BackgroundStudies of angiotensin-converting enzyme insertion/deletion (ACE I/D) polymorphisms and the risks of knee osteoarthritis (OA) have yielded conflicting results.ObjectiveTo determine the association between ACE I/D and knee OA, we conducted a combined case-control study and meta-analysis.MethodsFor the case-control study, 447 knee OA cases and 423 healthy controls were recruited between March 2010 and July 2011. Knee OA cases were defined using the Kellgren-Lawrence grading system, and the ACE I/D genotype was determined using a standard polymerase chain reaction. The association between ACE I/D and knee OA was detected using allele, genotype, dominant, and recessive models. For the meta-analysis, PubMed and Embase databases were systematically searched for prospective observational studies published up until August 2015. Studies of ACE I/D and knee OA with sufficient data were selected. Pooled results were expressed as odds ratios (ORs) with corresponding 95% confidence intervals (CI) for the D versus I allele with regard to knee OA risk.ResultsWe found no significant association between the D allele and knee OA [OR: 1.09 (95% CI: 0.76–1.89)] in the present case-control study, and the results of other genetic models were also nonsignificant. Five current studies were included, and there were a total of six study populations after including our case-control study (1165 cases and 1029 controls). In the meta-analysis, the allele model also yielded nonsignificant results [OR: 1.37 (95% CI: 0.95–1.99)] and a high heterogeneity (I2: 87.2%).ConclusionsThe association between ACE I/D and knee OA tended to yield negative results. High heterogeneity suggests a complex, multifactorial mechanism, and an epistasis analysis of ACE I/D and knee OA should therefore be conducted.

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Section: Introductionmentioning

confidence: 99%

Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism and Susceptibility to Osteoarthritis of the Knee: A Case-Control Study and Meta-Analysis

Lin

Fang

et al. 2016

PLoS ONE

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“…Individuals carrying the D/D genotype exhibit elevated levels of ACE, while those with the I/I have the lowest levels. One possible hypothesis suggests that the ACE polymorphism favors the production of Ang II, a powerful proinflammatory modulator that enhances and sustains immune responses, as observed in many AI diseases [134,135].…”

Section: Other Ai Diseases With Dermatological Implicationmentioning

confidence: 99%

The Renin-Angiotensin System: The Challenge behind Autoimmune Dermatological Diseases

Maranduca,

Cosovanu,

Clim

et al. 2023

Diagnostics

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Autoimmune dermatological diseases (AIDD) encompass a diverse group of disorders characterized by aberrant immune responses targeting the skin and its associated structures. In recent years, emerging evidence suggests a potential involvement of the renin–angiotensin system (RAS) in the pathogenesis and progression of these conditions. RAS is a multicomponent cascade, primarily known for its role in regulating blood pressure and fluid balance. All of the RAS components play an important role in controlling inflammation and other immune responses. Angiotensin II, the main effector, acts on two essential receptors: Angiotensin Receptor 1 and 2 (AT1R and AT2R). A disturbance in the axis can lead to many pathological processes, including autoimmune (AI) diseases. AT1R activation triggers diverse signaling cascades involved in inflammation, fibrosis and tissue remodeling. Experimental studies have demonstrated the presence of AT1R in various cutaneous cells and immune cells, further emphasizing its potential contribution to the AI processes in the skin. Furthermore, recent investigations have highlighted the role of other RAS components, beyond angiotensin-converting enzyme (ACE) and Ang II, that may contribute to the pathophysiology of AIDD. Alternative pathways involving ACE2, Ang receptors and Ang-(1-7) have been implicated in regulating immune responses and tissue homeostasis within the skin microenvironment. Understanding the intricate involvement of the RAS in AIDD may provide novel therapeutic opportunities. Targeting specific components of the RAS, such as angiotensin receptor blockers (ARBs), ACE inhibitors (ACEIs) or alternative RAS pathway modulators, could potentially ameliorate inflammatory responses, reduce tissue damage and lessen disease manifestations. Further research is warranted to outline the exact mechanisms underlying RAS-mediated immune dysregulation in AIDD. This abstract aims to provide a concise overview of the intricate interplay between the RAS and AIDD. Therefore, we elaborate a systematic review of the potential challenge of RAS in the AIDD, including psoriasis, systemic sclerosis, vitiligo, lupus erythematosus and many more.

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“…The I allele has been associated with certain aspects of endurance performance and functionally associated with reduced ACE serum levels and activity. 1,2 The ACE gene, which consists of 26 exons, is 44,770 bp in size and is located on chromosome 17q23.3. The I allele of the ACE polymorphism (rs4646994) contains an Alu repeat sequence that is absent from the D allele, resulting in II, ID, and DD genotypes.…”

Section: Introductionmentioning

confidence: 99%

The insertion and deletion (I28005D) polymorphism of the angiotensin I converting enzyme gene is a risk factor for osteoarthritis in an Asian Indian population

Poornima

Subramanyam

Khan

et al. 2014

J Renin Angiotensin Aldosterone Syst

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Introduction: Angiotensin I converting enzyme (ACE) insertion and deletion (I/D) polymorphism has been implicated in the pathogenesis of osteoarthritis (OA). In recent years, numerous genetic factors have been identified and implicated in OA. In this Asian Indian population-based study, we aimed to evaluate the relationship between ACE (I28005D) gene polymorphism and primary OA. We performed a case-control association study to identify and explore the correlation between clinically, radiologically diagnosed individuals with primary knee OA and the ACE I/D polymorphism. Methods: Genomic DNA was isolated from 200 samples, including 100 OA cases and 100 healthy volunteers. DNA was amplified by polymerase chain reaction (PCR) using I and D allele-specific primers. PCR products were assessed via UV visualization of products electrophoresed on 2% agarose gels. Results: The groups differed significantly in genotype distributions (p < 0.05). The primary knee OA group showed a considerably higher incidence of the DD genotype and the D allele compared to the control group (OR = 2.14, 95% CI: 1.10–4.15, p = 0.02 and OR = 2.08, 95% CI: 1.39–3.10, p = 0.0003). Conclusion: The ACE gene polymorphism I28005D was found to be associated with primary knee OA in Asian Indian populations. This is the first study in India to report that the ACE gene polymorphism is a risk factor for early onset primary knee OA.

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Angiotensin-converting enzyme insertion/deletion gene polymorphism is associated with dermatomyositis

Cited by 4 publications

References 26 publications

Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism and Susceptibility to Osteoarthritis of the Knee: A Case-Control Study and Meta-Analysis

Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism and Susceptibility to Osteoarthritis of the Knee: A Case-Control Study and Meta-Analysis

The Renin-Angiotensin System: The Challenge behind Autoimmune Dermatological Diseases

The insertion and deletion (I28005D) polymorphism of the angiotensin I converting enzyme gene is a risk factor for osteoarthritis in an Asian Indian population

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