PT  - JOURNAL ARTICLE
AU  - JULIEN WIPFF
AU  - GUILLAUME GALLIER
AU  - PHILIPPE DIEUDE
AU  - JEROME AVOUAC
AU  - KIET TIEV
AU  - ERIC HACHULLA
AU  - BRIGITTE GRANEL
AU  - ELISABETH DIOT
AU  - JEAN SIBILIA
AU  - LUC MOUTHON
AU  - OLIVIER MEYER
AU  - ANDRE KAHAN
AU  - MATHILDE VARRET
AU  - CATHERINE BOILEAU
AU  - YANNICK ALLANORE
TI  - Angiotensin-Converting Enzyme Gene Does Not Contribute to Genetic Susceptibility to Systemic Sclerosis in European Caucasians
AID  - 10.3899/jrheum.080622
DP  - 2009 Feb 01
TA  - The Journal of Rheumatology
PG  - 337--340
VI  - 36
IP  - 2
4099  - http://www.jrheum.org/content/36/2/337.short
4100  - http://www.jrheum.org/content/36/2/337.full
SO  - J Rheumatol2009 Feb 01; 36
AB  - Objective. To determine whether angiotensin-converting enzyme (ACE) polymorphisms including I/D and 2 single-nucleotide polymorphisms (SNP) affect susceptibility to systemic sclerosis (SSc) in a large French Caucasian population. Methods. A case-control study was performed in 494 patients with SSc and 280 healthy controls for I/D polymorphism. Two supplementary exonic SNP of ACE gene (rs4309, rs4362) were genotyped in 659 patients with SSc and 511 matched healthy controls. Among the whole SSc population, 453 (67%) patients with SSc had the limited cutaneous subtype, 47 (7%) had precapillary pulmonary arterial hypertension, 209 (32%) had digital ulcers, and 10 (1.5%) had renal crisis. A combined analysis of the available results for ACE I/D genotypes in Caucasians was also performed. Results. There was no association between the 3 polymorphic markers and SSc for allelic and genotype frequencies. No association was observed for the different vascular subsets of the disease. Haplotype analyses did not detect any association. The lack of association for ACE I/D was confirmed by the combined analysis. Conclusion. These results in a large cohort of European Caucasian patients with SSc do not support that the ACE gene is implicated in the pathogenesis of SSc and its vascular damage.