Angiotensin-I converting enzyme gene and I/D polymorphism distribution in the Greek population and a comparison with other European populations

Sekerli, Eleni; Katsanidis, Dimitrios; Vaya, Papadopoulou; Areti, Makedou; Vavatsi, N.; Gatzola, Magdalini

doi:10.1007/s12041-008-0013-7

Cited by 30 publications

(18 citation statements)

References 17 publications

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“…The distribution of the D allele in 41 healthy Polish children in the study by Olszowski et al [2015] was 68.3%, while another study in the Polish population reported a D allele frequency of only 43.5% in 111 healthy individuals [Zak et al, 2003]. Further, a study by Eleni et al [2008] summarized that the D allele frequency in healthy subjects varied from 49 to 53% in the European countries. This is in accordance with our results, where the distribution of I/D alleles in 182 healthy children without dental caries was 50: 50%.…”

Section: Discussionmentioning

confidence: 90%

ACE Insertion/Deletion Polymorphism Associated with Caries in Permanent but Not Primary Dentition in Czech Children

Linhartová

Kaštovský²,

Bartošová³

et al. 2016

Caries Res

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Objective: Dental caries is a multifactorial, infectious disease where genetic predisposition plays an important role. Insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) has very recently been associated with caries in Polish children. The aim of this study was to analyze ACE I/D polymorphism in a group of caries-free children versus subjects affected by dental caries in the Czech population. Materials and Methods: In this case-control study, 182 caries-free children (with decayed/missing/filled teeth, DMFT = 0), 561 subjects with dental caries (DMFT ≥1) aged 13-15 years and 220 children aged 2-6 years with early childhood caries (ECC, dmft ≥1) were included. Genotype determination of ACE I/D polymorphism in intron 16 was based on the TaqMan method. Results: Although no significant differences in the allele or genotype frequencies between the caries-free children and those affected by dental caries were observed, statistically significant differences between the children with DMFT = 0 and the subgroup of 179 patients with high caries experience (DMFT ≥4; p < 0.01 and p < 0.05, respectively) were detected. The comparison of DD versus II+ID genotype frequencies between the patients with DMFT ≥1 or DMFT ≥4 and healthy children also showed significant differences (31.5% or 35.6% vs. 23.6%, p < 0.05 or p < 0.01, respectively). A gender-based analysis identified a significant difference in the DD versus II+ID genotype frequencies only in girls (p < 0.05). In contrast, no significant association of ACE I/D polymorphism with ECC in young children was found (p > 0.05). Conclusions:ACE I/D polymorphism may be associated with caries in permanent but not primary dentition, especially in girls in the Czech population.

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Section: Discussionmentioning

confidence: 90%

ACE Insertion/Deletion Polymorphism Associated with Caries in Permanent but Not Primary Dentition in Czech Children

Linhartová

Kaštovský²,

Bartošová³

et al. 2016

Caries Res

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“…Evaluation of the frequency of gene variant occurrence in a control population would be helpful in assessing a potential role in development of AE. However, allele frequencies are highly influenced by ethnicity, as reported for some variants we tested for such as PAI-1 [ 20 , 28 ] and ACE [ 29 ]. Only specific polymorphisms/mutations in APP, ACE, PAI-1, and factor XII were tested.…”

Section: Discussionmentioning

confidence: 99%

Examination of genetic variants involved in generation and biodisposition of kinins in patients with angioedema

Levy

Rivard

Wagner

et al. 2014

All Asth Clin Immun

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BackgroundAngioedema (AE) is idiopathic in the majority of cases. We studied patients with AE for genetic variants of proteins involved with bradykinin generation and biodisposition.MethodsOne hundred sixty one patients with AE were recruited at a university hospital clinic. Patients were categorized according to the proposed pathogenesis of AE: low C1 inhibitor (C1-INH) and C4 levels, autoimmune disease, cancer, angiotensin-converting enzyme (ACE) inhibitor-induced, nonsteroidal antiinflammatory drug (NSAID)-induced, or idiopathic. In addition, each patient had a blood sample analyzed for a complement profile and enzymes (C1-INH and C4). Fifty-two of the patients were tested for genetic variants in factor XII, plasminogen-activator inhibitor-1 (PAI-1), ACE, and aminopeptidase P (APP).ResultsThe cause of angioedema was identified in 59/161 (37%) of the cases: 3 (2%) patients had a low plasma C1-INH and C4; 20 (12%) were ACE inhibitor-induced; 12 (7%) were associated with autoimmune disorders; 7 (4%) were associated with malignancy; and 17 (11%) were associated with NSAIDs. In the remaining 102 (63%) patients the cause of angioedema was idiopathic. Of 52 patients with genetic analysis, 13 (25%) had a genetic variant in APP, 10 (19%) in ACE, 13 (25%) in PAI-1, and 0 in Factor XII.ConclusionsIn addition to related diseases and medications causing AE, certain genetic variants encoding proteins involved in bradykinin generation and/or catabolism pathways may be involved in the pathogenesis of AE.

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“…The presence of DD genotype of this polymorphism is associated with 2-fold increased ACE activity, whereas those with the II genotype have the lowest ACE expression. This polymorphism is accounted for approximately half (47%) variation in ACE activity (8,9).…”

Section: Ace I/d Polymorphism and Plasma Ace Activitymentioning

confidence: 99%

ACE insertion/deletion (I/D) polymorphism and diabetic nephropathy

Rahimi¹

2012

J Nephropathol

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Implication for health policy/practice/research/medical education:The presence of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism affects the plasma level of ACE. ACE DD genotype is associated with highest systemic and renal ACE levels, compared with the lowest ACE activity in carriers of II genotype. Most studies confirmed that ACE I/D polymorphism is involved in the susceptibility to overt nephropathy with protective role of ACE II genotype against the disease in both type 1 and 2 diabetes mellitus. In this review focus has been performed on the study of ACE I/D polymorphism in various populations and its influence on the risk of onset and progression of diabetic nephropathy. Results:The presence of ACE insertion/deletion (I/D) polymorphism affects the plasma level of ACE. ACE DD genotype is associated with the highest systemic and renal ACE levels compared with the lowest ACE activity in carriers of II genotype. Conclusions: In this review focus has been performed on the study of ACE I/D polymorphism in various populations and its influence on the risk of onset and progression of diabetic nephropathy. Also, association between ACE I/D polymorphism and response to ACE inhibitor and angiotensin II receptor antagonists will be reviewed. Further, synergistic effect of this polymorphism and variants of some genes on the risk of development of diabetic nephropathy will be discussed.Review Article

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Angiotensin-I converting enzyme gene and I/D polymorphism distribution in the Greek population and a comparison with other European populations

Cited by 30 publications

References 17 publications

<b><i>ACE</i></b> Insertion/Deletion Polymorphism Associated with Caries in Permanent but Not Primary Dentition in Czech Children

<b><i>ACE</i></b> Insertion/Deletion Polymorphism Associated with Caries in Permanent but Not Primary Dentition in Czech Children

Examination of genetic variants involved in generation and biodisposition of kinins in patients with angioedema

ACE insertion/deletion (I/D) polymorphism and diabetic nephropathy

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