Aging-related Traits and Disease Risk Factors in a Sardinian Population Cohort

由于与年龄有关的疾病的发病率通常每10年增加一倍，因此确定与疾病风险有关的基因可以为早期诊断和可能的干预点提供途径。我们在撒丁岛人口队列（SardiNIA2）中对衰老相关疾病的基因发现和纵向研究表明，对撒丁岛人口的研究可以推断出与各种特征相关的基因的强烈信号，包括心血管疾病的危险因素。本项目旨在以两种方式利用这些发现。在一种方法中，正在研究与特定风险因素特征相关的基因，包括那些被确定与血液脉搏波速度水平和血清尿酸水平有关的基因，以调查导致生理差异的基因的精确变异，以及这些基因对这些特征的影响的生化基础。在第二种方法中，基因研究正在扩展到撒丁岛临床系列患者和几种疾病的对照，包括自身免疫性疾病和心血管疾病。一项首次成功的研究揭示了一种使肺部炎症和哮喘之间产生联系的基因（IRAK-M），这一观点支持了撒丁岛人口之间的相互关系可以简化基因分析的观点。

Because the incidence of age-related diseases generally doubles with every 10 years of life, the identification of genes associated with risk of a disease can provide a route to early diagnosis and possible points of intervention. We have shown see ZO1 on Gene-finding and longitudinal studies for aging-associated conditions in a Sardinian population cohort (SardiNIA2) that studies of the population of Sardinia can infer strong signals for genes associated with a wide variety of traits, including risk factors for cardiovascular disease. This Project is designed to capitalize on the findings in two ways. In one approach, the genes associated with specific risk factor traits, including those identified as involved in the levels of the pulse wave velocity of blood and in the levels of serum uric acid, are being studied to investigate the precise variation in the gene that causes the difference in physiology, and the biochemical basis for the effects of those genes on those traits. In a second approach, the genetic studies are being extended to clinical series of Sardinian patients and controls for several diseases, including autoimmune and cardiovascular diseases. The notion that the inter-relatedness in the Sardinian population can simplify the genetic analyses is supported by a first successful study has revealed a gene that makes a link between inflammation in the lung and asthma (IRAK-M).