Genetic Determinants of Pelvic Floor Disorders

描述(由申请人提供)：盆底疾病(PFD)影响一 三分之一的成年女性和九分之一的女性接受手术，仍然犹豫不决 了解这些疾病的病因或预防措施。这项建议 在提出盆底疾病遗传性研究方面是独一无二的 以期为他们的起因提供新的线索。已知的风险因素有哪些 在重大煽动之前，只有家族史才能识别出处于危险中的女性 而促进因素就会涌现出来。这方面的广泛、长期目标 建议建立PFDs的遗传决定因素，并确定 可能与这些疾病的发生有关的基因。 这项建议的具体目标是1)确定下列的PFD表型 通过详细的临床信息最有可能具有遗传成分 从通过犹他州大陆确认的受影响姐妹对收集 中心患者数据库和2)使用基因测试可能的候选基因 受影响姐妹对的连锁分析。这些兄弟姐妹对将是 根据表型一致性进行优先排序，控制 每对受影响姐妹的已知风险因素。成功完成我们的 遗传分析应该导致对遗传贡献的表征 对于这些疾病，允许对处于危险中的患者进行症状前识别， 并极大地促进了我们对PFD疾病过程的理解。 我们的申请显示犹他大学健康科学中心 将独特的患者群体与经验丰富的临床医生、遗传学家、 以及这个项目所需的遗传流行病学家。

DESCRIPTION (provided by applicant): Pelvic floor disorders (PFDs) affect one third of adult women and result in surgery for one in nine women, still liffle is known about the etiology or prevention of these conditions. This proposal is unique in proposing to study of the heritability of pelvic floor disorders in an effort to shed new light on their causes. Of the known risk factors for PFDs, only family history identifies women at risk before the major inciting and promoting factors transpire. The broad, long-term objectives of this proposal are to establish the genetic determinants of PFDs and to identify genes that may contribute to the development of these conditions. The specific aims of this proposal are 1) to identif~r PFD phenotypes that are most likely to have a genetic component through detailed clinical information collected from affected sister pairs identified through the Utah Continence Center patient database and 2) to test likely candidate genes using genetic linkage analysis of affected sister pairs. These sibling pairs will be prioritized based on phenotype concordance, controlling for the effect of known risk factors on each affected sister pair. Successful completion of our genetic analysis should lead to characterization of the genetic contribution to these disorders, allow pre-symptomatic identification of patients at risk, and substantially advance our understanding of the disease processes in PFDs. Our application shows that the University of Utah Health Sciences Center combines a unique patient population with experienced clinicians, geneticists, and genetic epidemiologists necessary to this project.