Genetic Determinants of Pelvic Floor Disorders

描述（由申请人提供）：骨盆底疾病（PFDs）影响一个 三分之一的成年女性接受手术， 是已知的病因或预防这些条件。这项建议 在提议研究盆底疾病的遗传性方面是独一无二的 试图揭示他们的原因。已知的风险因素 PFDs，只有家族史才能在主要诱因之前识别出处于风险中的女性 和促进因素散发。这一广泛的长期目标 建议是建立PFDs的遗传决定因素，并确定 基因可能有助于这些条件的发展。 该建议的具体目的是：1）鉴定PFD表型， 通过详细的临床信息， 收集自通过犹他州大陆鉴定的受影响的姐妹对 中心患者数据库和2）使用遗传学方法测试可能的候选基因 受影响的姐妹对的连锁分析。这些兄弟姐妹将 根据表型一致性进行优先排序，控制 已知的危险因素。成功完成我们的 遗传分析应导致遗传贡献的表征 对这些疾病，允许预先症状识别处于风险中的患者， 并大大推进我们对PFDs疾病过程的理解。 我们的申请显示犹他州大学健康科学中心 将独特的患者人群与经验丰富的临床医生，遗传学家， 和遗传流行病学家

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.