IRAS FAMILY STUDY EXAMINATION-2

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者的研究机构。 目的：启动对肥胖和葡萄糖稳态（IRAS家族研究基线检查中评价的主要表型）有贡献的基因的定位克隆。 研究报告：该部分的主要目标是重新检查IRAS家族研究队列，通过收集表型来获得对肥胖和葡萄糖稳态遗传基础的新生物学见解，这些表型增加了我们基线数据的深度，并获得行为数据用于解释和分析主要表型。 基线数据的收集提供了重要的横断面遗传学和流行病学见解;然而，为了增强对研究结果的生物学解释，特别是关于肥胖和葡萄糖稳态指标的变化，因为它们与遗传因素、脂肪细胞因子和环境调节剂有关，需要有针对性的随访数据收集。 方法：将联系在1999年10月至2002年3月期间参加IRAS家族研究临床检查基线表型部分的所有家族成员，以参加此次随访检查。 随访检查将在初次检查后约5年进行。 通过每年与参加者的接触，应加强对后续考试的参与。 参加者将到他们原来的临床中心进行两个小时的检查。 知情同意后，经过培训的技术人员将采集空腹血液和尿液样本，进行人体测量并测量静息血压。 面试将由经过培训的面试官进行。 将在诊所进行全身DXA扫描。 腹部CT扫描将按照与基线检查相同的方案在非研究中心位置进行。 对于不愿或无法参加随访临床检查的受试者，将获得体重和糖尿病状态的自我报告。 临床相关性：哺乳动物基因分型服务（MGS）已经完成了从家庭成员（约2000人）收集的DNA样本的基因组扫描。 连锁分析已经确定了与肥胖和葡萄糖稳态表型相关的基因组区域。 连锁结果激发了后续的分子遗传学方法。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. OBJECTIVE: Initiate positional cloning of genes contributing to adiposity and glucose homeostasis, the primary phenotypes evaluated in the IRAS Family Study baseline examination. RESEARCH PLAN: The primary goals of this component, the re-examination of the IRAS Family Study cohort, are to obtain new biological insights into the genetic basis of adiposity and glucose homeostasis by collection of phenotypes that add depth to our baseline data and to obtain behavioral data for interpretation and analysis of the primary phenotypes. The collection of the baseline data provided important cross-sectional genetic and epidemiologic insights; however, to enhance the biological interpretation of the study findings, particularly with respect to change in adiposity and glucose homeostasis measures as they related to genetic factors, adipocytokines and environmental modifiers, targeted follow-up data collection is required. METHODS: All family members who participated in the baseline phenotyping portion of the IRAS Family Study clinical examination between October 1999 and March 2002 will be contacted to participate in this follow-up examination. The follow-up examination will occur approximately 5 years after the initial examination. Participation in the follow-up exam should be enhanced by our annual contact with our participants. Participants will report to their original clinical center for a two-hour examination. After informed consent, trained technicians will obtain fasting blood and urine samples, will perform anthroptometry and will measure resting blood pressure. Interviews will be administered by trained interviewers. Whole body DXA scans will be performed in the clinic. The abdominal CT scan will be performed at an off-site location following the same protocol as the baseline examination. For participants unwilling or unable to attend a follow-up clinic examination, self-report of weight and diabetes status will be obtained. CLINICAL RELEVANCE: The Mammalian Genotyping Service (MGS) has completed a genome scan of the DNA samples collected from the family members (approximately 2000 individuals). Linkage analyses have identified genomic regions related to adiposity and glucose homeostasis phenotypes. The linkage results have motivated follow-up by molecular genetic approaches.