Polymorphism of the Angiotensin-Converting Enzyme Gene

Um, Jae‐Young; Kim, Hyun-Ju; Choi, Tae-Jin; Jin, Chong-Shick; Park, Seung-Taeck; Lee, Kang-Chang; Rhee, Hee-Sub; Lee, Kang‐Min; Lee, Young-Mi; Kim, Hyung-Min; An, Nyeon‐Hyoung; Kim, Jeong-Joong

doi:10.1385/jmn:17:3:279

Cited by 16 publications

(3 citation statements)

References 22 publications

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“…The frequency of genotype distribution in our control subjects was consistent with the previous reports in general population of Korea [30,31]. Some Asian studies indicate a possible relationship between the ACE I/D polymorphism and clinical course of IgAN [32,33,34].…”

Section: Discussionsupporting

confidence: 91%

Impact of Polymorphisms of the Genes Encoding Angiotensin II-Forming Enzymes on the Progression of IgA Nephropathy

Jung¹,

Kim²,

Cha³

et al. 2010

Nephron Clin Pract

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Background/Aims: Angiotensin II has been shown to play an important role in various renal diseases. Genetic polymorphisms of the renin-angiotensin system have been reported to be related to the clinical outcomes in immunoglobulin A nephropathy (IgAN). We investigated the association of polymorphisms of the genes encoding major angiotensin II-forming enzymes with the development and progression of IgAN among Korean patients. Methods: A total of 261 IgAN patients and 300 healthy controls were studied. The polymorphisms of angiotensin-converting enzyme gene (I/D, A2350G) and chymase (CMA) gene (rs1800875, rs1800876) were determined. Results: No significant difference was observed in the genotype and allele frequencies of the polymorphisms between IgAN patients and controls. The frequency of AA/AG genotypes of CMA rs1800875 and CC/CT genotype of CMA rs1800876 were significantly higher in patients with progressive disease course than in those with stable course (53.2 vs. 38.6%, p = 0.029; 89.6 vs. 78.3%, p = 0.031, respectively). In the Cox regression model with adjustment for clinical risk factors, CMA rs1800875 AA/AG genotypes remained an independent risk factor (hazard ratio 2.351; p = 0.001). Conclusion: Our results suggest that the CMA rs1800875 polymorphism is associated with the progression of IgAN in Korean patients.

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Section: Discussionsupporting

confidence: 91%

Impact of Polymorphisms of the Genes Encoding Angiotensin II-Forming Enzymes on the Progression of IgA Nephropathy

Jung¹,

Kim²,

Cha³

et al. 2010

Nephron Clin Pract

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“…Heterogeneity of the OR was also observed within this grouping ( I 2 = 78.6; p HET = 0.0003). We identified four Korean studies [30–33], but they were not included in the meta-analysis because of suspicion of duplicate publication. The overall OR in the Asian group combined (Chinese and Japanese) was 1.82 (95% CI 1.28–2.60).…”

Section: Resultsmentioning

confidence: 99%

Genetics of Ischaemic Stroke among Persons of Non-European Descent: A Meta-Analysis of Eight Genes Involving ∼ 32,500 Individuals

et al. 2007

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BackgroundIschaemic stroke in persons of European descent has a genetic basis, but whether the stroke-susceptibility alleles, the strength of any association, and the extent of their attributable risks are the same in persons of non-European descent remains unanswered. Whether ethnicity itself has a relevant or substantial contribution on those effect estimates is controversial. Comparative analyses between the ethnic groups may allow general conclusions to be drawn about polygenic disorders.Methods and FindingsWe performed a literature-based systematic review of genetic association studies in stroke in persons of non-European descent. Odds ratios (ORs) and 95% confidence intervals (CIs) were determined for each gene–disease association using fixed and random effect models. We further performed a comparative genetic analysis across the different ethnic groups (including persons of European descent derived from our previous meta-analysis) to determine if genetic risks varied by ethnicity. Following a review of 500 manuscripts, eight candidate gene variants were analysed among 32,431 individuals (12,883 cases and 19,548 controls), comprising mainly Chinese, Japanese, and Korean individuals. Of the eight candidate genes studied, three were associated with ischaemic stroke: the angiotensin I converting enzyme (ACE) insertion/deletion (I/D) polymorphism with a mean OR of 1.90 (95% CI 1.23–2.93) in the Chinese and 1.74 (95% CI 0.88–3.42) in the Japanese; the summary OR for the C677T variant of 5,10-methylenetetrahydrofolate reductase (MTHFR) was 1.18 (95% CI 0.90–1.56) in Chinese and 1.34 (95% CI 0.87–2.06) in Koreans; and the pooled OR for the apolipoprotein E (APOE) gene was 2.18 (95% CI 1.52–3.13) in Chinese and 1.51 (95% CI 0.93–2.45) in Japanese. Comparing the commonly investigated stroke genes among the Asian groups against studies in persons of European descent, we found an absence of any substantial qualitative or quantitative interaction for ORs by ethnicity. However, the number of individuals recruited per study in the studies of persons of non-European descent was significantly smaller compared to studies of persons of European descent, despite a similar number of studies conducted per gene.ConclusionsThese data suggest that genetic associations studied to date for ischaemic stroke among persons of non-European descent are similar to those for persons of European descent. Claims of differences in genetic effects among different ethnic populations for complex disorders such as stroke may be overstated. However, due to the limited number of gene variants evaluated, the relatively smaller number of individuals included in the meta-analyses of persons of non-European descent in stroke, and the possibility of publication bias, the existence of allele variants with differential effects by ethnicity cannot be excluded.

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“…These acids act as messengers or as precursors of eicosanoids, which mediate signal transduction [75]. Arachidonic and docosahexaenoic acids, which are abundant in the membranes of cells in the retina and the central nervous system, can influence the viability of retinal and central nervous system cells [76, 77] and demonstrate antitumor and antiangiogenic effects, similar to PEDF [78,79]. …”

Section: Pedf Receptormentioning

confidence: 99%

PEDF - A Noninhibitory Serpin with Neurotrophic Activity

2010

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The pigment epithelium-derived factor (PEDF) is a glycoprotein with a molecular weight of 50 kDa belonging to the noninhibitory serpin family. It regulates several physiological processes, such as stimulation of retinoblastoma cell differentiation into neuron cells, and facilitation of the growth and viability of photoreceptor cells and neurons of the central nervous system. Moreover, this factor protects neuronal cells against apoptosis. PEDF is not only a neurotrophic factor, but also a natural angiogenesis inhibitor. This protein, as well as its biologically active fragments, possesses significant neuroprotective, neurotrophic, and antiangiogenic capabilities. The precise molecular mechanisms underpinning the effects of PEDF are still not quite clear. However, this protein generates great interest as a promising drug for the therapy of a wide range of neurodegenerative, ophthalmological, and oncological diseases. This review is a summary of what is known today about the structural features, biochemical properties, and multimodal functions of PEDF.

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Polymorphism of the Angiotensin-Converting Enzyme Gene

Cited by 16 publications

References 22 publications

Impact of Polymorphisms of the Genes Encoding Angiotensin II-Forming Enzymes on the Progression of IgA Nephropathy

Impact of Polymorphisms of the Genes Encoding Angiotensin II-Forming Enzymes on the Progression of IgA Nephropathy

Genetics of Ischaemic Stroke among Persons of Non-European Descent: A Meta-Analysis of Eight Genes Involving ∼ 32,500 Individuals

PEDF - A Noninhibitory Serpin with Neurotrophic Activity

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