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

由于与年龄相关的疾病的发病率通常每10年翻一番，识别与疾病风险相关的基因可以提供一条早期诊断的途径和可能的干预点。我们已经表明，撒丁岛人群队列中的基因发现和老龄化相关条件的纵向研究(SardiNIA2)中的ZO1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，包括心血管疾病的风险因素。该项目旨在通过两种方式利用调查结果。在一种方法中，正在研究与特定风险因素特征相关的基因，包括那些被确认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影响的生化基础。在第二种方法中，遗传学研究正在扩展到撒丁岛患者的临床系列和几种疾病的对照，包括自身免疫和心血管疾病。撒丁岛人群的相互关联可以简化遗传分析的观点得到了第一项成功研究的支持，该研究揭示了一种在肺部炎症和哮喘之间建立联系的基因(IRAK-M)。

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).