Diurnal Preference in Amish Families

描述(申请人提供)：在这份职业发展奖的申请中，我将为人类昼夜节律的流行病学和遗传学研究奠定基础。这项拟议的研究旨在为在不久的将来规划更全面的昼夜节律研究提供有价值的信息。先前的研究表明，昼夜节律的偏好是可遗传的，生物钟的变化与年龄有关。我们假设昼夜节律是昼夜节律的一个组成部分，在旧秩序阿米什人(OOA)中是可变的和可遗传的，它与年龄有关。这项研究的主要目标有三个：(1)在种群水平上调查人类昼夜喜好与衰老相关表型之间的关系；(2)描述昼夜喜好的遗传流行病学特征，包括全基因组范围的连锁分析；以及(3)评估活动图在昼夜节律研究中的有效性。我们计划使用Horne-Ostberg问卷从1000名Amish家庭心血管干预研究(AFCVIS)参与者和300名Amish参与者“创始人人群中的长寿基因研究”(LGFPS)参与者中收集有关昼夜偏好的信息，这两项新启动的研究旨在研究心血管疾病、骨质疏松症和长寿的遗传决定因素。此外，我们将获得LGFP研究中200名志愿者的7天活动和睡眠日志记录。这些人已经获得了与衰老相关的表型和5厘米基因组扫描的广泛信息。我们的目标是有效地扩大我们的数据收集，以研究昼夜喜好，并最终研究昼夜节律。这项拟议中的家庭研究是在一个基因同质、生活方式“老式”的创始人群体中进行的，这为在一个庞大的自由生活的人类群体中研究昼夜偏好提供了一个独特的机会。

DESCRIPTION (provided by applicant): In this Career Development Award application, I will lay the foundation for epidemiological and genetic studies of circadian rhythm in human populations. This proposed study is designed to obtain valuable information for the planning of more comprehensive studies of circadian rhythm in the near future. Prior studies have suggested that the diurnal preference is heritable and changes in circadian clock are associated with aging. We hypothesize that diurnal preference, a component of circadian rhythm, is variable and heritable in the Old Order Amish (OOA) and it is associated with aging. The primary objectives of this research proposal are three-fold: (1) to investigate the association between human diurnal preference and aging-related phenotypes at a population level; (2) to characterize genetic epidemiology of diurnal preference, including a genome-wide linkage analysis; and 3) to evaluate the usefulness of actigraphy in the studies of circadian rhythm. We plan to collect information on diurnal preference using the Horne-Ostberg questionnaire from 1,000 participants in the Amish Family Cardiovascular Intervention Study (AFCVIS) and 300 Amish participants of the "Longevity Genes in Founder Populations Study" (LGFPS), two newly initiated studies designed for studying genetic determinants of cardiovascular diseases, osteoporosis, and longevity. In addition, we will obtain 7-day actigraph and sleep log records from 200 volunteers in the LGFP study. Extensive information on aging-related phenotypes and a 5-cM genome scan are already available in these people. Our goal is to efficiently expand our data collection to study diurnal preference, and eventually, circadian rhythm. This proposed family study in a genetically homogeneous founder population with an "old-fashioned" life style provides a unique opportunity to study diurnal preference in a large and free-living human population.