Deletion polymorphism in the angiotensin I converting enzyme (ACE) gene as a genetic risk factor for sarcoidosis.

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

“…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.…”

“…In individual studies performed in Caucasians (Italian, UK twice, American Caucasians, Finnish, Swedish twice, Czechs, and Spanish) and in Japanese (three times), the association between the polymorphism and sarcoidosis was not demonstrated. There have been speculations that the polymorphism should be involved in the pathogenesis of sarcoidosis in Japanese female patients (Furuya et al 1996), in poor prognosis in Finnish patients (Pietinalho et al 1999) and in familial sarcoidosis (Maliarik et al 1998;Schurmann et al 2001). However, only in a study on African Americans (Maliarik et al 1998) was the associationfound, this result being in favor of specific ethnicity/risk association of sarcoidosis.…”

“…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.…”

“…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).…”

“…(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 …”