Association analysis of the plasminogen activator inhibitor-1 4G/5G polymorphism in Hispanics and African Americans: the IRAS family study

Hum Hered. 2004;57(3):128-37. doi: 10.1159/000079243.

Abstract

Objective: Plasminogen activator inhibitor type-1 (PAI-1) plays a central role in fibrolysis and has recently been hypothesized to influence components of the insulin resistance syndrome. We consider whether the 4G/5G polymorphism influences components of insulin resistance and obesity solely through PAI-1 protein levels or also though a secondary pathway. In addition, we explore whether transforming growth factor (TGF-beta1), a key regulator of PAI-1 expression, modifies the influence of the PAI-1 4G/5G polymorphism on these traits.

Methods and results: The Insulin Resistance and Atherosclerosis (IRAS) Family Study genotyped 287 African American (18 pedigrees) and 811 Hispanic American (45 pedigrees) individuals for the 4G/5G PAI-1 and two TGF-beta1 polymorphisms (R25P, C-509T). Individuals were recruited from three clinical centers located in San Antonio (urban Hispanic), San Luis Valley (rural Hispanic) and Los Angeles (African American). The presence of the 4G PAI-1 allele was positively associated with PAI-1 protein level (combined sample p < 0.0001). Hispanic Americans average 65% higher PAI-1 protein levels than African Americans (p < 0.0001). Consistently across ethnic groups, increased PAI-1 protein levels were associated with increased insulin resistance and overall and central obesity (p value < 0.0001, combined sample). Adjusting for PAI-1 protein levels, there was evidence of an association of PAI-1 genotype (4G) with insulin sensitivity (p < 0.002) and subcutaneous fat (p < 0.01). These associations were not influenced by TGF-beta1 genotypes.

Conclusions: PAI-1 protein is a strong correlate of insulin resistance (IR) and obesity in Hispanics and African Americans. However, PAI-1 4G/5G polymorphism appears to influence insulin resistance and obesity beyond its direct influence on serum PAI-1 protein levels.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Black or African American
  • Body Composition
  • DNA Primers
  • Enzyme-Linked Immunosorbent Assay
  • Gene Expression Regulation*
  • Genetic Linkage
  • Genotype
  • Glucose Tolerance Test
  • Hispanic or Latino
  • Humans
  • Insulin / blood
  • Insulin Resistance / genetics*
  • Linkage Disequilibrium
  • Models, Genetic
  • Obesity / genetics*
  • Pedigree
  • Phenotype*
  • Plasminogen Activator Inhibitor 1 / genetics*
  • Plasminogen Activator Inhibitor 1 / metabolism
  • Polymorphism, Genetic*
  • Quantitative Trait Loci / genetics
  • Radioimmunoassay
  • Tomography, X-Ray Computed
  • Transforming Growth Factor beta / genetics
  • Transforming Growth Factor beta / metabolism
  • Transforming Growth Factor beta1
  • United States

Substances

  • DNA Primers
  • Insulin
  • Plasminogen Activator Inhibitor 1
  • TGFB1 protein, human
  • Transforming Growth Factor beta
  • Transforming Growth Factor beta1