Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành hóa học dành cho các bạn yêu hóa học tham khảo đề tài: Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic | Coto et al. Journal of Translational Medicine 2010 8 64 http content 8 1 64 JOURNAL OF TRANSLATIONAL MEDICINE RESEARCH Open Access Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy AT1R as a potential modifier Eliecer Goto 1 5 María Palacín1 María Martín2 Mónica G Castro1 Julián R Reguero2 Cristina García1 José R Berrazueta3 César Morís2 Blanca Morales1 Francisco Ortega4 Ana I Corao1 Marta Díaz1 BeatrizTavira1 and Victoria Alvarez1 Abstract Background Angiotensin and serotonin have been identified as inducers of cardiac hypertrophy. DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular diseases including left ventricular hypertrophy LVH . Methods We genotyped five polymorphisms of the AGT ACE AT1R 5-HT2A and 5-HTTgenes in 245 patients with Hypertrophic Cardiomyopathy HCM 205 without an identified sarcomeric gene mutation in 145 patients with LVH secondary to hypertension and 300 healthy controls. Results We found a significantly higher frequency of AT1R 1166 C carriers CC AC among the HCM patients without sarcomeric mutations compared to controls p OR 95 CI . The AT1R 1166 C was also more frequent among patients who had at least one affected relative compared to sporadic cases. This allele was also associated with higher left ventricular wall thickness in both HCM patients with and without sarcomeric mutations. Conclusions The 1166 C AT1R allele could be a risk factor for cardiac hypertrophy in patients without sarcomeric mutations. Other variants at the AGT ACE 5-HT2A and 5-HTTdid not contribute to the risk of cardiac hypertrophy. Introduction Left-ventricular hypertophy LVH is a physiological adaptation of the heart to increased workload. LVH is frequently secondary to clinical conditions such as hypertension valvular disease and myocardial .
