心房利钠肽基因——长QT综合征的一种潜在生物标志物。
Atrial natriuretic peptide gene - a potential biomarker for long QT syndrome.
作者信息
Qureshi Sameera Fatima, Ali Altaf, Venkateshwari Ananthapur, Rao Hygriv, Jayakrishnan M P, Narasimhan Calambur, Shenthar Jayaprakash, Thangaraj Kumarasamy, Nallari Pratibha
机构信息
Department of Genetics, University College of Science, Osmania University, Hyderabad-500007, Andhra Pradesh, India.
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Andhra Pradesh, India.
出版信息
EXCLI J. 2014 Aug 13;13:834-42. eCollection 2014.
This study highlights the possible implication of NPPA (natriuretic peptide precursor A) gene in the etiology of Long QT syndrome (LQTS) by population-based as well as familial study. Three SNPs of NPPA - C-664G, C1363A and T1766C were examined by molecular analyses in LQTS, controls and first degree relatives (FDRs). This study revealed a possible association of 1364 C>A SNP 'C' allele with LQTS (p = 0.0013). All three SNPs were in tight linkage disequilibrium. The familial study highlights the association of NPPA SNP with cLQTS and implicating it as a potential biomarker in South Indian population.
本研究通过基于人群的研究以及家族研究，强调了NPPA（利钠肽前体A）基因在长QT综合征（LQTS）病因学中的可能影响。通过分子分析，在LQTS患者、对照组及一级亲属（FDRs）中检测了NPPA的三个单核苷酸多态性（SNP）——C-664G、C1363A和T1766C。该研究揭示了1364 C>A SNP的“C”等位基因与LQTS可能存在关联（p = 0.0013）。所有这三个SNP都处于紧密连锁不平衡状态。家族研究强调了NPPA SNP与先天性LQTS的关联，并表明它是印度南部人群中的一种潜在生物标志物。
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