Abstract
The insertion/deletion polymorphism of angiotensin-converting enzyme may influence muscle properties. We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensin-converting enzyme polymorphism. METHODS: We included 38 patients with late-onset Pompe disease, aged 44.6 ± 19.8 years. We compared the distribution of angiotensin-converting enzyme polymorphism according to demographic and disease parameters. RESULTS: The distribution of angiotensin-converting enzyme polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The three groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P = 0.041), higher creatine kinase levels at diagnosis (P = 0.024), presence of muscle pain (P = 0.014), and more severe rate of disease progression (P = 0.037, analysis of variance test for interaction). DISCUSSION: These findings suggest a potential role of angiotensin-converting enzyme polymorphism in modulating Pompe disease phenotype and prognosis.
| Original language | English |
|---|---|
| Pages (from-to) | 206-211 |
| Number of pages | 6 |
| Journal | Genetics in Medicine |
| Volume | 12 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2010 |
Fingerprint
Keywords
- ACE polymorphism
- Genotype-phenotype correlation
- Muscle properties
- Pompe disease
- Type II glycogenosis
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. / De Filippi, Paola; Ravaglia, Sabrina; Bembi, Bruno; Costa, Alfredo; Moglia, Arrigo; Piccolo, Giovanni; Repetto, Alessandra; Dardis, Andrea; Greco, Giuseppe; Ciana, Giovanni; Canevari, Francesco; Danesino, Cesare.
In: Genetics in Medicine, Vol. 12, No. 4, 04.2010, p. 206-211.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease
AU - De Filippi, Paola
AU - Ravaglia, Sabrina
AU - Bembi, Bruno
AU - Costa, Alfredo
AU - Moglia, Arrigo
AU - Piccolo, Giovanni
AU - Repetto, Alessandra
AU - Dardis, Andrea
AU - Greco, Giuseppe
AU - Ciana, Giovanni
AU - Canevari, Francesco
AU - Danesino, Cesare
PY - 2010/4
Y1 - 2010/4
N2 - The insertion/deletion polymorphism of angiotensin-converting enzyme may influence muscle properties. We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensin-converting enzyme polymorphism. METHODS: We included 38 patients with late-onset Pompe disease, aged 44.6 ± 19.8 years. We compared the distribution of angiotensin-converting enzyme polymorphism according to demographic and disease parameters. RESULTS: The distribution of angiotensin-converting enzyme polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The three groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P = 0.041), higher creatine kinase levels at diagnosis (P = 0.024), presence of muscle pain (P = 0.014), and more severe rate of disease progression (P = 0.037, analysis of variance test for interaction). DISCUSSION: These findings suggest a potential role of angiotensin-converting enzyme polymorphism in modulating Pompe disease phenotype and prognosis.
AB - The insertion/deletion polymorphism of angiotensin-converting enzyme may influence muscle properties. We examined whether Pompe disease clinical manifestations, which are known to be highly variable among late-onset patients, may be modulated by angiotensin-converting enzyme polymorphism. METHODS: We included 38 patients with late-onset Pompe disease, aged 44.6 ± 19.8 years. We compared the distribution of angiotensin-converting enzyme polymorphism according to demographic and disease parameters. RESULTS: The distribution of angiotensin-converting enzyme polymorphism was in line with the general population, with 16% of patients carrying the II genotype, 37% carrying the DD genotype, and the remaining patients with the ID genotype. The three groups did not differ in mean age, disease duration, Walton score, and other scores used to measure disease severity. The DD polymorphism was associated with earlier onset of disease (P = 0.041), higher creatine kinase levels at diagnosis (P = 0.024), presence of muscle pain (P = 0.014), and more severe rate of disease progression (P = 0.037, analysis of variance test for interaction). DISCUSSION: These findings suggest a potential role of angiotensin-converting enzyme polymorphism in modulating Pompe disease phenotype and prognosis.
KW - ACE polymorphism
KW - Genotype-phenotype correlation
KW - Muscle properties
KW - Pompe disease
KW - Type II glycogenosis
UR - http://www.scopus.com/inward/record.url?scp=77951498293&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77951498293&partnerID=8YFLogxK
U2 - 10.1097/GIM.0b013e3181d2900e
DO - 10.1097/GIM.0b013e3181d2900e
M3 - Article
C2 - 20308911
AN - SCOPUS:77951498293
VL - 12
SP - 206
EP - 211
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 4
ER -