Santamaría A, Diego V P, Almasy L, Rainwater D L, Mahaney M C, Comuzzie A G, Cole S A, Dyer T D, Tracy R P, Stern M P, Maccluer J W, Blangero J
Department of Genetics, Southwest Foundation for Biomedical Research, 7620 NW Loop 410, San Antonio, TX 78227, USA.
Hum Biol. 2007 Oct;79(5):515-23. doi: 10.1353/hub.2008.0008.
Plasminogen is a hemostasis-related phenotype and is commonly implicated in thrombotic and bleeding disorders. In the San Antonio Family Heart Study (SAFHS), we performed to our knowledge the first genomewide linkage scan for quantitative trait loci (QTLs) that influence the level of plasminogen. The subset of the SAFHS population used for this study consists of 629 individuals distributed across 26 extended Mexican American families. Pedigree-based variance component linkage analyses were performed using SOLAR. The mean plasminogen level was 114.94% +/- 17.8 (range, 42-195). The heritability (h2) of plasminogen was 0.43 +/- 0.08 (p < 6.3 x 10(-13)). One region on chromosome 12 (12q14.1) showed suggestive evidence of linkage (LOD = 2.73, nominal p < 0.0002, genomewide p = 0.0786) near marker D12S1609. Because plasminogen has important effects in many human health problems, such as cancer and atherosclerosis, the role of this putative QTL in the regulation of plasminogen variability needs to be studied further.
纤溶酶原是一种与止血相关的表型，通常与血栓形成和出血性疾病有关。在圣安东尼奥家族心脏研究（SAFHS）中，据我们所知，我们首次对影响纤溶酶原水平的数量性状基因座（QTL）进行了全基因组连锁扫描。本研究使用的SAFHS人群子集包括分布在26个墨西哥裔美国家庭扩展家族中的629名个体。使用SOLAR进行基于家系的方差成分连锁分析。纤溶酶原的平均水平为114.94%±17.8（范围为42 - 195）。纤溶酶原的遗传力（h2）为0.43±0.08（p < 6.3×10^(-13)）。12号染色体上的一个区域（12q14.1）在标记D12S1609附近显示出连锁的提示性证据（LOD = 2.73，名义p < 0.0002，全基因组p = 0.0786）。由于纤溶酶原在许多人类健康问题（如癌症和动脉粥样硬化）中具有重要作用，因此需要进一步研究这个假定的QTL在纤溶酶原变异性调节中的作用。
