Linkage and association analyses of a locus on chromosome 4 that contributes to population variation in HDL cholesterol

高密度脂蛋白（HDL）胆固醇也被称为好胆固醇，因为它有助于清除体内的胆固醇。许多研究表明，一个人的高密度脂蛋白胆固醇越高，动脉硬化和心脏病发作的可能性就越小。重要的问题是，是什么控制着高密度脂蛋白胆固醇的水平，我们怎样才能使它升高？我们知道生活方式和基因很重要。众所周知，吸烟和缺乏锻炼会降低高密度脂蛋白胆固醇，而适量饮酒会增加高密度脂蛋白胆固醇。然而，遗传因素是非常重要的决定因素，但仍然模糊不清。通过我们最近在维多利亚家族心脏研究（VFHS）中的发现，我们在4号染色体上找到了一个影响血浆高密度脂蛋白胆固醇水平的区域。进一步的测试已经确认并完善了我们的基因目标——这个区域某处控制高密度脂蛋白胆固醇水平的基因。下一步是找到罪魁祸首基因和DNA序列，以解释为什么有些人的高密度脂蛋白胆固醇水平高，有些人的低。我们的优势是有一个庞大的、特征明确的志愿者群体，以及最新的分子技术来追踪这种基因。国际上很少有其他组织拥有我们的资源或在研究方面如此先进。这项研究将对开发有效和有针对性的检测、预防和治疗心血管疾病的策略具有重要意义。

High-density lipoprotein (HDL) cholesterol is also known as good cholesterol becuase it helps remove cholesterol from the body. Many studies have shown that the higher one's HDL cholesterol, the less likely is the development of hardening of the arteries and heart attack. The important questions are what controls HDL cholesterol levels and how could we make them higher? We know that lifestyle and genetics are important. Smoking and lack of exercise are known to reduce HDL cholesterol, while moderate alcohol intake increases HDL cholesterol. However, genetic factors are very important determinants, but have remained obscure. Through our recent discovery in the Victorian Family Heart Study (VFHS), we located a region on chromosome 4 that influences plasma level of HDL cholesterol. Further testing has confirmed and refined our genetic target - a gene somewhere in this region that controls HDL cholesterol levels. The next step is to find the culprit gene and the DNA sequences that explain why some people have high and others low HDL cholesterol levels. We have the advantage of a large and well characterised group of volunteers and the very latest molecular techniques to track down the gene. Few other groups internationally have our resources or are as advanced in their research. This study will have significant implications for the development of effective and targeted strategies for detection, prevention and treatment of cardiovascular disease.