A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait loci for osteoporosis
A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait loci for osteoporosis
复制标题
DOI：
10.1210/jc.2002-020474
复制
发表时间：
2002-11-01
影响因子：
5.8
通讯作者：
Recker, RR
中科院分区：
文献类型：
--
作者：
Deng, HW;Xu, FH;Recker, RR
骨质疏松症是一个重要的健康问题，尤其是老年妇女。骨矿物质密度（BMD）是骨质疏松症的主要决定因素。对于包含 1249 个兄弟姐妹对、1098 个祖孙对和 2589 个堂兄弟姐妹对的 53 个家系样本，我们使用 380 个微卫星标记进行全基因组连锁扫描，以识别可能包含 BMD 数量性状位点 (QTL) 的基因组区域。每个谱系都是通过 BMD 值属于人群底部 101 7c 的先证者来确定的。我们进行了两点和多点连锁分析。提出了几个潜在重要的基因组区域。例如，标记D10S1651附近的基因组区域可能包含髋部BMD变异的QTL（两点分析LOD得分为1.97，多点分析LOD得分为2.29）。标记 D4S413 和 D12S1723 附近的基因组区域可能包含脊柱 BMD 变异的 QTL（两点分析 LOD 得分分别为 2.12 和 2.17，多点分析 LOD 得分分别为 3.08 和 2.96）。将本报告和一些早期报告中确定的基因组区域进行比较，以在扩展研究中探索更大的样本和/或更密集的标记，以进行确认和精细绘图，以最终确定与骨质疏松症有关的主要功能基因。 W 临床内分泌代谢 87：5151-5159，2002）。
Osteoporosis is an important health problem, particularly in the elderly women. Bone mineral density (BMD) is a major determinant of osteoporosis. For a sample of 53 pedigrees that contain 1249 sibling pairs, 1098 grandparent-grandchildren pairs, and 2589 first cousin pairs, we performed a whole-genome linkage scan using 380 microsatellite markers to identify genomic regions that may contain quantitative trait loci (QTL) of BMD. Each pedigree was ascertained through a proband with BMD values belonging to the bottom 101 7c of the population. We conducted two-point and multipoint linkage analyses. Several potentially important genomic regions were suggested. For example, the genomic region near the marker D10S1651 may contain a QTL for hip BMD variation (with two-point analysis LOD score of 1.97 and multipoint analysis LOD score of 2.29). The genomic regions near the markers D4S413 and D12S1723 may contain QTLs for spine BMD variation (with two-point analysis LOD score of 2.12 and 2.17 and multipoint analysis LOD score of 3.08 and 2.96, respectively). The genomic regions identified in this and some earlier reports are compared for exploration in extension studies with larger samples and/or denser markers for confirmation and fine mapping to eventually identify major functional genes involved in osteoporosis. W Clin Endocrinol Metab 87: 5151-5159, 2002).