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首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia
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Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

机译：CPS1基因rs7422339多态性对阿根廷高同型半胱氨酸血症患者的影响

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摘要

Carbamoyl phosphate synthetase 1 ( CPS1 ) is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (National Center for Biotechnology Information SNP database no. rs7422339, T1405N) was reported to be associated with high homocysteine (Hcy) plasma values. Although genetic variants of methylenetetrahydrofolate reductase ( MTHFR ) gene are known to influence Hcy concentration, other genetic determinants of Hcy remain largely unknown. The association between the CPS1 rs7422339 and the risk of hyperhomocysteinemia in Latin American populations is unknown. Here, we study this association in 100 patients having hyperhomocysteinemia without MTHFR c.677C>T polymorphism and 100 controls. CPS1 rs7422339 was studied using polymerase chain reaction and enzymatic restriction. Comparisons of the CPS1 rs7422339 genotype distributions revealed a significant difference between groups ( P = 2.3 ???? 10 ?￠????3 ). Patients carrying polymorphic allele showed almost 3 times higher risk (odds ratio [OR] = 2.47) of hyperhomocysteinemia than wild-type allele, suggesting that rs7422339 SNP is associated with high Hcy levels in the Argentine population.
机译：氨基甲酸酯磷酸合成酶1（CPS1）是尿素循环第一步的关键基因，与一氧化氮水平和血管平滑肌活动相关。据报道，CPS1（国家生物技术信息中心SNP数据库编号rs7422339，T1405N）在4217位的功能性单核苷酸多态性C / A与高半胱氨酸（Hcy）血浆值有关。尽管已知亚甲基四氢叶酸还原酶（MTHFR）基因的遗传变异会影响Hcy的浓度，但Hcy的其他遗传决定因素仍然未知。 CPS1 rs7422339与拉丁美洲人群高同型半胱氨酸血症的风险之间的关联尚不清楚。在这里，我们研究了100例无MTHFR c.677C> T多态性的高同型半胱氨酸血症患者和100例对照者的这种关联。 CPS1 rs7422339使用聚合酶链反应和酶促限制进行了研究。 CPS1 rs7422339基因型分布的比较显示，各组之间存在显着差异（P = 2.3×10×10×3）。携带多态性等位基因的患者显示高同型半胱氨酸血症的风险（野生型等位基因比[OR] = 2.47）几乎是野生型等位基因的3倍，这表明rs7422339 SNP与阿根廷人群的高Hcy水平相关。

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