Quantitative Trait Locus on Chromosome 12q14.1 Influences Variation in Plasma Plasminogen Levels in the San Antonio Family Heart Study (original) (raw)
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1 October 2007 Quantitative Trait Locus on Chromosome 12q14.1 Influences Variation in Plasma Plasminogen Levels in the San Antonio Family Heart Study
A. Santamaría,V. P. Diego,L. Almasy,D. L. Rainwater,M. C. Mahaney,A. G. Comuzzie,S. A. Cole,T. D. Dyer,R. P. Tracy,M. P. Stern,J. W. Maccluer,J. Blangero
Author Affiliations +
A. Santamaría,*,** V. P. Diego,* L. Almasy,* D. L. Rainwater,* M. C. Mahaney,* A. G. Comuzzie,* S. A. Cole,* T. D. Dyer,* R. P. Tracy,*** M. P. Stern,**** J. W. Maccluer,* J. Blangero*
*Department of Genetics, Southwest Foundation for Biomedical Research, 7620 NW Loop 410, San Antonio, TX 78227.
**Unitat d'Hemostasia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
***Department of Pathology, University of Vermont, Colchester, VT.
****Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX.
Abstract
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 (_h_2) of plasminogen was 0.43 ± 0.08 (p < 6.3 × 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.
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A. Santamaría, V. P. Diego, L. Almasy, D. L. Rainwater, M. C. Mahaney, A. G. Comuzzie, S. A. Cole, T. D. Dyer, R. P. Tracy, M. P. Stern, J. W. Maccluer, and J. Blangero "Quantitative Trait Locus on Chromosome 12q14.1 Influences Variation in Plasma Plasminogen Levels in the San Antonio Family Heart Study," Human Biology 79(5), 515-523, (1 October 2007). https://doi.org/10.1353/hub.2008.0008
Received: 5 August 2006; Accepted: 1 March 2007; Published: 1 October 2007
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KEYWORDS
SAN ANTONIO FAMILY HEART STUDY (SAFHS)