Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier
Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier
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DOI：
10.1186/1479-5876-8-64
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发表时间：
2010-07-01
影响因子：
7.4
通讯作者：
Alvarez, Victoria
中科院分区：
文献类型：
--
作者：
Coto, Eliecer;Palacin, Maria;Alvarez, Victoria
背景：血管紧张素和血清素已被确定为心脏肥大的诱导剂。编码血管紧张素和血清素系统成分的基因的 DNA 多态性与罹患心血管疾病（包括左心室肥厚 (LVH)）的风险相关。方法：我们对 245 名肥厚型心肌病 (HCM) 患者的 AGT、ACE、AT1R、5-HT2A 和 5-HTT 基因的 5 种多态性进行了基因分型；其中 205 名患者没有已确定的肌节基因结果：我们发现，与对照组相比，无肌节突变的 HCM 患者中 AT1R 1166 C 携带者 (CC+AC) 的频率显着更高 (p = 0.015；OR = 1.56；95% CI = 1.09-2.23)。与散发病例相比，AT1R 1166 C 在至少有一名受影响亲属的患者中也更常见。该等位基因还与有或没有肌节突变的 HCM 患者的左心室壁厚度较高有关。结论：1166 C AT1R 等位基因可能是没有肌节突变的患者心脏肥大的危险因素。 AGT、ACE、5-HT2A 和 5-HTT 的其他变异不会增加心脏肥大的风险。
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-HTT genes 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 = 0.015; OR = 1.56; 95% CI = 1.09-2.23). 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-HTT did not contribute to the risk of cardiac hypertrophy.