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

doi:10.1353/hub.2008.0008

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

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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 (h²) 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.

Original language	English (US)
Pages (from-to)	515-523
Number of pages	9
Journal	Human Biology
Volume	79
Issue number	5
DOIs	https://doi.org/10.1353/hub.2008.0008
State	Published - Oct 2007

Keywords

Mexican Americans
Plasminogen
Quantitative trait loci
San Antonio Family Heart Study (SAFHS)

ASJC Scopus subject areas

Ecology, Evolution, Behavior and Systematics
Genetics
Genetics(clinical)

Access to Document

10.1353/hub.2008.0008

Cite this

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. (2007). 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. https://doi.org/10.1353/hub.2008.0008

Santamaría, A, Diego, VP, Almasy, L, Rainwater, DL, Mahaney, MC, Comuzzie, AG, Cole, SA, Dyer, TD, Tracy, RP, Stern, MP, Maccluer, JW & Blangero, J 2007, 'Quantitative trait locus on chromosome 12q14.1 influences variation in plasma plasminogen levels in the San Antonio Family Heart Study', Human Biology, vol. 79, no. 5, pp. 515-523. https://doi.org/10.1353/hub.2008.0008

@article{aa9178405c4049acb736e96e9561603e,

title = "Quantitative trait locus on chromosome 12q14.1 influences variation in plasma plasminogen levels in the San Antonio Family Heart Study",

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 (h2) 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.",

keywords = "Mexican Americans, Plasminogen, Quantitative trait loci, San Antonio Family Heart Study (SAFHS)",

author = "A. Santamar{\'i}a and Diego, {V. P.} and L. Almasy and Rainwater, {D. L.} and Mahaney, {M. C.} and Comuzzie, {A. G.} and Cole, {S. A.} and Dyer, {T. D.} and Tracy, {R. P.} and Stern, {M. P.} and Maccluer, {J. W.} and J. Blangero",

year = "2007",

month = oct,

doi = "10.1353/hub.2008.0008",

language = "English (US)",

volume = "79",

pages = "515--523",

journal = "Human Biology",

issn = "0018-7143",

publisher = "Wayne State University Press",

number = "5",

}

TY - JOUR

T1 - Quantitative trait locus on chromosome 12q14.1 influences variation in plasma plasminogen levels in the San Antonio Family Heart Study

AU - Santamaría, A.

AU - Diego, V. P.

AU - Almasy, L.

AU - Rainwater, D. L.

AU - Mahaney, M. C.

AU - Comuzzie, A. G.

AU - Cole, S. A.

AU - Dyer, T. D.

AU - Tracy, R. P.

AU - Stern, M. P.

AU - Maccluer, J. W.

AU - Blangero, J.

PY - 2007/10

Y1 - 2007/10

N2 - 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 × 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.

AB - 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 × 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.

KW - Mexican Americans

KW - Plasminogen

KW - Quantitative trait loci

KW - San Antonio Family Heart Study (SAFHS)

UR - http://www.scopus.com/inward/record.url?scp=42549114670&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=42549114670&partnerID=8YFLogxK

U2 - 10.1353/hub.2008.0008

DO - 10.1353/hub.2008.0008

M3 - Article

C2 - 18478967

AN - SCOPUS:42549114670

SN - 0018-7143

VL - 79

SP - 515

EP - 523

JO - Human Biology

JF - Human Biology

IS - 5

ER -

Quantitative trait locus on chromosome 12q14.1 influences variation in plasma plasminogen levels in the San Antonio Family Heart Study

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this