Fine mapping of a significant linkage region for endometriosis

子宫内膜异位症重要连锁区域的精细定位

• 批准号: nhmrc : 339430
• 负责人: A/Pr Dale Nyholt
• 金额: $ 34.56万
• 依托单位: Queensland Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2005
• 资助国家: 澳大利亚
• 起止时间: 2005-01-01 至 2007-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/fine-mapping-significant-region-endometriosis/80959
• 关键词: Fine; mapping; significant; linkage; region

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.

子宫内膜异位症是一种常见的疾病，影响高达10%的妇女。在这种情况下，一种特殊类型的组织，通常衬在子宫内（“子宫内膜”）开始在子宫外生长，主要是在骨盆（下腹部）。常见的症状是严重的骨盆疼痛，月经问题和不孕症。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还不清楚。遗传因素影响妇女患子宫内膜异位症的风险，发现导致这种疾病的基因和途径将是一个重大进展。这将有助于设计更好的方法来诊断，预防和治疗子宫内膜异位症。自1996年以来，近4,000名子宫内膜异位症患者及其家人加入了我们的遗传研究。这包括大约1,000个有两个或两个以上姐妹篇都患有这种疾病的家庭。我们观察了这些姐妹篇的DNA，发现了一个或多个基因影响一条染色体上的子宫内膜异位症的重要证据。没有其他人将此位置与子宫内膜异位症联系起来。我们现在正在实验室里集中精力研究这个包含大约250个基因的区域。我们新项目的目的是更详细地研究该区域的基因，以确定导致子宫内膜异位症风险的基因。