Polymorphism in the Angiotensin-Converting Enzyme  (ACE) Gene and Sarcoidosis

Tomita, Hiroshi; Ina, Yasutaka; Sugiura, Yoshiki; Sato, Shigeki; Kawaguchi, H; Morishita, Munehiko; Yamamoto, Masahiko; Ueda, Ryuzo

doi:10.1164/ajrccm.156.1.9612011

Cited by 102 publications

(88 citation statements)

References 20 publications

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“…The characteristics of 12 analyses (Arbustini et al 1996;Furuya et al 1996;Sharma et al 1997;Tomita et al 1997;Takemoto et al 1998;Garrib et al 1998;Maliarik et al 1998;Pietinalho et al 1999;Papadopoulos et al 2000;Planck et al 2002;Alia et al 2005) on the risk of sarcoidosis in subjects with intron16 ID polymorphism in the ACE gene are summarized in Table 2. These studies involved 1,392 patients and 2,147 controls.…”

Section: Results Of Id/ace Polymorphism In Sarcoidosismentioning

confidence: 99%

“…2 The results of individual and summary OR estimates with 95% CI, fixed-effect model: (a) ID/ACE polymorphism-dominant genetic model; (b) ID/ACE polymorphism-recessive genetic model. The size of the square is proportional to the percent weight of each study; horizontal lines represent the 95% CI higher production of sACE in both the general population and sarcoidosis patients (Rigat et al 1990;Tiret et al 1992;Arbustini et al 1996;Furuya et al 1996;Sharma et al 1997;Tomita et al 1997;Csaszar et al 1997). All these findings have contributed to the idea of the ID/ACE polymorphism's involvement in sarcoidosis etiology and/or pathogenesis, but neither the individual studies (except for African Americans) nor our meta-analysis confirmed this idea.…”

Section: Discussionmentioning

confidence: 99%

“…The final review was performed on 17 studies analyzing polymorphisms in the ACE gene, 12 of them being case control studies on insertion/deletion (ID) polymorphisms in intron 16, and these were submitted for meta-analysis (Arbustini et al 1996;Furuya et al 1996;Sharma et al 1997;Tomita et al 1997;Takemoto et al 1998;Garrib et al 1998;Maliarik et al 1998;Pietinalho et al 1999;Papadopoulos et al 2000;Planck et al 2002;Alia et al 2005). The remaining five studies not included were family-based studies, studies evaluating serum ACE levels or studies evaluating sarcoidosis symptoms (Csaszar et al 1997;Niimi et al1998;Kawakami et al 1998;Schurmann et al 2001;Rybicki et al 2004).…”

Section: Data Extractionmentioning

confidence: 99%

“…(Arbustini et al 1996;Furuya et al 1996;Sharma et al 1997;Tomita et al 1997;Takemoto et al1998;Garrib et al 1998;Maliarik et al 1998;Pietinalho et al 1999;Papadopoulos et al 2000;Planck et al 2002;Alia et al 2005;Csaszar et al1997;Niimi et al1998;Kawakami et al1998;Schurmann et al2001;Rybicki et al2004) 12 (Arbustini et al 1996;Furuya et al 1996;Sharma et al1997;Tomita et al 1997;Takemoto et al 1998;Garrib et al 1998;Maliarik et al 1998;Pietinalho et al 1999;Papadopoulos et al 2000;Planck et al 2002;Alia et al 2005) A-5466C (Rybicki et al2004;Seitzer et al1997;Takashige et al1999;Somskövi et al1999;Yamaguchi et al2001;Labunski et al2001;Grutters et al2002;Pandey et al2002;Mrazek et al2005) 7 (Seitzer et al 1997;Takashige et al 1999;Somskövi et al 1999;Yamaguchi et al 2001;Labunski et al 2001;Pandey et al2002;Mrazek et al2005) -238 3 …”

Section: Data Extractionunclassified

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Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

et al. 2007

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A great number of association studies have been performed to identify the genes involved in the etiology and prognosis of sarcoidosis. We performed a systematic review of case-control studies through the PubMed database and evaluated them for a possible inclusion into a meta-analysis in order to assess whether the reported genetic polymorphisms are the risk factors of sarcoidosis. Case-control studies with clear diagnostic criteria and interventions were included. Only investigations of a single polymorphism/gene involvement in sarcoidosis reported more than five times were selected. Aggregating data from 12 studies on ID/ACE polymorphisms, the odds ratio (OR) for sarcoidosis, if the polymorphism was considered under the dominant genetic model, was not significantly increased: 1.19 (95% CI 0.98-1.43); OR under the recessive model was 1.20 (95% CI 0.98-1.46). In seven case-control studies on -308/TNF-a polymorphism, the OR for sarcoidosis if the polymorphism considered under the dominant genetic model was significantly increased at 1.47 (95% CI 1.03-2.08); the OR under the recessive model was 1.39 (95% CI 0.67-2.90). In conclusion, the results showed that the TNF-a genotype could be a significant risk factor for sarcoidosis, whereas the risk of sarcoidosis due to the ACE genotype was not substantially elevated.

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Section: Results Of Id/ace Polymorphism In Sarcoidosismentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Data Extractionmentioning

confidence: 99%

Section: Data Extractionunclassified

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Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

et al. 2007

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“…This is explained on the basis that lower circulating ACE levels inactivate less bradykinin and tachykinins. 6) Finally, nearly all studies agree that the ACE polymorphism accounts for the variability in the serum ACE levels in sarcoidosis too, thus suggesting that new normal ranges should be provided for each genotype [98]. The Italian study, however, hypothesized that chest radiograph stage and ACE genotype act independently of each other in determining ACE levels [95].…”

Section: Angiotensin Converting Enzyme Genementioning

confidence: 99%

Genetic aspects in sarcoidosis

Luisetti¹,

Beretta²,

Casali³

2000

Eur Respir J

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Sarcoidosis is an immune-mediated, multiorgan, granulomatous disorder thought to be triggered by an intricate combination of environmental and genetic factors. Two robust lines of evidence support the hypothesis of a genetic component in the pathogenesis of sarcoidosis: racial variation in its epidemiology and familial clustering of cases. The relationship between epidemiology and environmental factors affecting variations in sarcoidosis incidence/prevalence and presentation are reviewed, as well as strategies to be pursued in the search for susceptibility genes for the disorder.Pathogenic processes leading to sarcoid granuloma formation and maintenance have prompted investigators interested in the genetics of sarcoidosis to focus mainly on major histocompatibility complex genes, and indeed a remarkable amount of data has been accumulated during the last two decades. Whilst in contrast with some autoimmune disorders a clear association between human leukocyte antigen (HLA) and sarcoidosis is still a controversial issue, there is, however, a general agreement that some HLA genes are related to phenotypic variations of the disease. Some genetic investigators have focused on T-cell receptor genes, immunoglobulin genes, angiotensin converting enzyme gene, chemokine genes and others.From a review of studies performed in different racial and ethnic groups, a reasonable suggestion arises that genetic factors are the major determinant in the racial variations in the epidemiology of the disorder. This assumption is, however, so far limited by lack of studies considering both genetic and environmental factors simultaneously. Eur Respir J 2000; 16: 768±780.

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Serum angiotensin‐converting enzyme levels indicating early sarcoidosis diagnosis and immunosuppressive therapy efficacy

et al. 2023

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AimsThis study aimed to determine the new cut-off value of serum angiotensin-converting enzyme (ACE) levels for detecting patients with sarcoidosis and to examine the change in ACE levels after the initiation of immunosuppressive therapy. Methods and resultsWe retrospectively examined patients in whom serum ACE levels were measured for suspected sarcoidosis between 2009 and 2020 in our institution. For patients diagnosed with sarcoidosis, changes in ACE levels were also observed. Of the 3781 patients (51.1% men, 60.1 ± 17.0 years old), 477 were excluded for taking ACE inhibitors and/or immunosuppression agents or those with any diseases affecting serum ACE levels. In 3304 patients including 215 with sarcoidosis, serum ACE levels were 19.6 IU/L [interquartile range, 15.1-31.5] in patients with sarcoidosis and 10.7 [8.4-16.5] in those without sarcoidosis (P < 0.01), and the best cut-off value was 14.7 IU/L with 0.865 of the area under the curves. Compared with the current ACE cut-off of 21.4, the sensitivity improved from 42.3 to 78.1 at the new cut-off, although specificity slightly decreased from 98.6 to 81.7. The ACE level significantly decreased more in those with immunosuppression therapy than in those without it (P for interaction <0.01), although it decreased in both groups (P < 0.01). Conclusions Because the sensitivity for detecting sarcoidosis is comparatively low at the current standard value, further examinations are needed for patients suspected of sarcoidosis with relatively high ACE levels in the normal range. In patients with sarcoidosis, ACE levels decreased after the initiation of immunosuppression therapy.

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Polymorphism in the Angiotensin-Converting Enzyme (ACE) Gene and Sarcoidosis

Cited by 102 publications

References 20 publications

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

Role of genetic polymorphisms in ACE and TNF-α gene in sarcoidosis: a meta-analysis

Genetic aspects in sarcoidosis

Serum angiotensin‐converting enzyme levels indicating early sarcoidosis diagnosis and immunosuppressive therapy efficacy

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