A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.

作者: Cristina Mazzaccara , Giuseppe Limongelli , Mario Petretta , Rossella Vastarella , Giuseppe Pacileo

DOI: 10.2459/JCM.0000000000000670

关键词:

摘要: AIMS SCN5A is a disease-causing gene associated with familial dilated cardiomyopathy (FDC). We examined the possible association between common polymorphism in (c.1673A>G-p.H558R; rs1805124) and risk of (DCM) occurrence. METHODS genotyped 185 DCM cases (familial DCM, idiopathic postischemic DCM) 251 controls for p.H558R gene, to test molecular epidemiology individuals presence/absence various types DCM. RESULTS Our results showed that rs1805124 was significantly more significant patients FDC; furthermore, these individuals, less frequent GG genotype 7.39-fold increased disease [95% confidence interval (95% CI) = 2.88-18.96; P < 0.0001] compared AA genotype. Moreover, logistic regression analysis carriers had higher than + AG (odds ratio = 5.45, 95% CI = 2.23-13.35; P < 0.001). No observed patients. CONCLUSION study demonstrates an which may unravel additional genetic predisposition development multifactorial as

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