Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2
Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2
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DOI：
10.1210/jc.2005-0622
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发表时间：
2005-12-01
影响因子：
5.8
通讯作者：
Spielman, RS
中科院分区：
文献类型：
--
作者：
Urbanek, M;Woodroffe, A;Spielman, RS
背景：多囊卵巢综合症（PCOS）是一种常见的内分泌疾病，据信具有遗传基础。然而，尚未最终确定具体的易感基因或区域。 目的：本研究的目的是复制先前将 PCOS 易感区域定位于染色体 19p13.2 的研究，并缩小易感区域。 设计：本研究旨在通过连锁和基于家族的关联分析，测试 367 个家族中 PCOS 与短串联重复多态性之间的遗传连锁和关联。 在学术医疗中心进行。患者或其他参与者：我们研究了 367 个主要是欧洲血统且至少有一名 PCOS 患者的家庭。家庭包括 83 个家庭的 107 对兄弟姐妹 (ASP)，以及 390 个父母双方和一名受影响的女儿的三人组。该数据集包含两个独立的组。第一组由 44 个 ASP 和 163 个三人组组成。第 2 组由 63 个 ASP 和 227 个三组组成。干预措施：干预措施是抽血进行 DNA 提取。主要结果测量：我们采用了 PCOS 和 19 个 STR 之间联系和关联的证据测量。结果：在染色体 19p13.2 的广泛区域观察到与 PCOS 的联系。 D19S884 观察到最强的关联证据（chi(2) = 11.85；名义 P < 0.0006；排列 P = 0.034），并重复了我们之前的研究结果。结论：本分析表明 PCOS 易感位点与 D19S884 非常接近。需要进行其他研究来系统地表征 D19S884 邻近区域的 DNA 序列变异，以确定 PCOS 易感性变异。
Context: Polycystic ovary syndrome ( PCOS) is a common endocrine disorder that is believed to have a genetic basis. However, no specific susceptibility gene or region has been conclusively identified.Objective: The objective of this study was to duplicate a previous study that localized a PCOS susceptibility region to chromosome 19p13.2 and to narrow the susceptibility region.Design: This study was designed to test for genetic linkage and association between PCOS and short tandem repeat polymorphisms in 367 families, by analysis of linkage and family-based association.Setting: The study was conducted at academic medical centers.Patients or Other Participants: We studied 367 families of predominantly European origin with at least one PCOS patient. Families included 107 affected sibling ( sister) pairs ( ASPs) in 83 families, and 390 trios with both parents and an affected daughter. The data set comprises two independent groups. Set 1 consists of 44 ASPs and 163 trios. Set 2 consists of 63 ASPs and 227 trios.Intervention(s): The intervention was the drawing of blood for DNA extraction.Main Outcome Measure: We employed measures of evidence for linkage and association between PCOS and 19 STRs.Results: Linkage with PCOS was observed over a broad region of chromosome 19p13.2. The strongest evidence for association was observed with D19S884 ( chi(2) = 11.85; nominal P < 0.0006; permutation P = 0.034) and duplicated our earlier findings.Conclusions: The present analysis suggests that a PCOS susceptibility locus maps very close to D19S884. Additional studies that systematically characterize DNA sequence variation in the immediate area of D19S884 are required to identify the PCOS susceptibility variant.