Diurnal Preference in Amish Families

描述（由申请人提供）：在这份职业发展奖申请中，我将为人类昼夜节律的流行病学和遗传学研究奠定基础。本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，昼夜偏好是遗传的，生物钟的变化与衰老有关。我们假设昼夜偏好是昼夜节律的一个组成部分，在Old Order Amish （OOA）中是可变的和可遗传的，并且与衰老有关。本研究计划的主要目标有三个：(1)在种群水平上研究人类昼夜偏好与衰老相关表型之间的关系；(2)研究昼夜偏好的遗传流行病学特征，包括全基因组连锁分析；3)评价活动记录仪在昼夜节律研究中的应用价值。我们计划使用霍恩-奥斯伯格问卷收集1000名阿米什家庭心血管干预研究（AFCVIS）参与者和300名创始人群长寿基因研究（LGFPS）参与者的日常偏好信息，这两项新发起的研究旨在研究心血管疾病、骨质疏松症和寿命的遗传决定因素。此外，我们将获得200名志愿者在LGFP研究中的7天活动记录和睡眠日志记录。关于衰老相关表型的大量信息和5cm基因组扫描已经在这些人中可用。我们的目标是有效地扩展我们的数据收集，以研究昼夜偏好，并最终研究昼夜节律。这项拟议的家庭研究在一个具有“老式”生活方式的基因同质的创始人群中提供了一个独特的机会来研究大量自由生活的人群的昼夜偏好。

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.