Azam Afifah Binti, Azizan Elena Aisha Binti
Department of Medicine, The National University of Malaysia Medical Centre, Kuala Lumpur, Malaysia.
Int J Endocrinol. 2018 Jan 30;2018:7259704. doi: 10.1155/2018/7259704. eCollection 2018.
Primary hypertension is widely believed to be a complex polygenic disorder with the manifestation influenced by the interactions of genomic and environmental factors making identification of susceptibility genes a major challenge. With major advancement in high-throughput genotyping technology, genome-wide association study (GWAS) has become a powerful tool for researchers studying genetically complex diseases. GWASs work through revealing links between DNA sequence variation and a disease or trait with biomedical importance. The human genome is a very long DNA sequence which consists of billions of nucleotides arranged in a unique way. A single base-pair change in the DNA sequence is known as a single nucleotide polymorphism (SNP). With the help of modern genotyping techniques such as chip-based genotyping arrays, thousands of SNPs can be genotyped easily. Large-scale GWASs, in which more than half a million of common SNPs are genotyped and analyzed for disease association in hundreds of thousands of cases and controls, have been broadly successful in identifying SNPs associated with heart diseases, diabetes, autoimmune diseases, and psychiatric disorders. It is however still debatable whether GWAS is the best approach for hypertension. The following is a brief overview on the outcomes of a decade of GWASs on primary hypertension.
原发性高血压被广泛认为是一种复杂的多基因疾病，其表现受基因组和环境因素相互作用的影响，这使得确定易感基因成为一项重大挑战。随着高通量基因分型技术的重大进展，全基因组关联研究（GWAS）已成为研究基因复杂疾病的研究人员的有力工具。GWAS通过揭示DNA序列变异与具有生物医学重要性的疾病或性状之间的联系来开展工作。人类基因组是一个非常长的DNA序列，由数十亿个以独特方式排列的核苷酸组成。DNA序列中的单个碱基对变化被称为单核苷酸多态性（SNP）。借助基于芯片的基因分型阵列等现代基因分型技术，可以轻松对数千个SNP进行基因分型。大规模GWAS对超过50万个常见SNP进行基因分型，并在数十万病例和对照中分析疾病关联，在识别与心脏病、糖尿病、自身免疫性疾病和精神疾病相关的SNP方面取得了广泛成功。然而，GWAS是否是高血压的最佳方法仍存在争议。以下是对原发性高血压十年GWAS结果的简要概述。
