Fine mapping of a significant linkage region for endometriosis

子宫内膜异位症是一种常见的疾病，影响多达10%的女性。在这种情况下，通常排列在子宫内部的一种特殊类型的组织（“子宫内膜”）开始在子宫外生长，主要在骨盆（下腹）。常见的症状是严重的盆腔疼痛、月经问题和不孕。这种疾病对妇女的健康、人际关系、生产力和生活选择产生重大影响。引起子宫内膜异位症的机制尚不清楚。遗传因素影响女性患子宫内膜异位症的风险，找到导致这种疾病的基因和途径将是一项重大进展。这将有助于设计更好的诊断、预防和治疗子宫内膜异位症的方法。自1996年以来，近4000名患有子宫内膜异位症的女性及其家人加入了我们的基因研究。这包括大约1000个有两个或更多姐妹都患有这种疾病的家庭。我们研究了这对姐妹的DNA，并在一条染色体上发现了影响子宫内膜异位症的一个或多个基因的重要证据。没有人把这个部位和子宫内膜异位症联系起来。我们现在正在实验室集中精力研究这个包含大约250个基因的领域。我们新项目的目的是更详细地研究该地区的基因，以确定导致子宫内膜异位症风险的基因或基因。

Endometriosis is a common disorder affecting up to 10% of women. In this condition, a special type of tissue that normally lines the inside of the womb (the 'endometrium') starts to grow outside the womb, mostly in the pelvis (lower abdomen). Common symptoms are severe pelvic pain, menstrual problems and infertility. The disease has a major impact on women's health, relationships, productivity and life choices. The mechanisms that cause endometriosis are not well understood. Genetic factors influence a woman's risk of developing endometriosis and finding genes and pathways leading to this disease would be a major advance. This will help design better approaches for the diagnosis, prevention and treatment of endometriosis. Since 1996, nearly 4,000 women with endometriosis plus their families have joined our genetic study. This includes around 1,000 families with two or more sisters who both have the disease. We have looked at the DNA from these sisters and found significant evidence for a gene or genes affecting endometriosis on one chromosome. No one else has linked this location with endometriosis. We are now focusing our efforts in the laboratory on this area, which contains approximately 250 genes. The aim of our new project is to study genes in the region in more detail to pinpoint the gene or genes responsible for risk of endometriosis.