Molecular Biology Reports

, Volume 38, Issue 5, pp 2987–2992 | Cite as

Sp1 polymorphism in collagen I α1 gene is associated with osteoporosis in lumbar spine of Mexican women

  • Edith Falcón-Ramírez
  • Leonora Casas-Avila
  • Antonio Miranda
  • Pilar Diez
  • Clementina Castro
  • Julieta Rubio
  • Rocío Gómez
  • Margarita Valdés-FloresEmail author


The Sp1 binding site polymorphism in collagen type I alpha 1 gene (COLIA1) has been associated with osteoporosis (OP) and bone mineral density (BMD). The aim of this study was to explore the association of this polymorphism with OP and BMD in the Mexican population by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) procedure. Allelic and genotypic frequencies from the Sp1 polymorphism were determined in 100 women with OP, 100 women without OP and 500 subjects from general Mexican population (GMP). Distribution of Sp1 polymorphism was in Hardy–Weinberg equilibrium. In spite of population structure due to racial mix in Mexican population, associations with OP were demonstrated. The frequency of “s” allele was significantly higher in women with OP (35%) than in women without OP (11%; P < 0.00001). Interestingly, “ss” genotype, was exclusive of women with OP and was associated with low BMD (0.588 ± 0.077 g/cm2) in contrast to “SS” genotype (0.733 ± 0.039 g/cm2; P = 0.0001). This work confirms the association of Sp1 polymorphism with low BMD and OP in Mexican population and make sure to use Sp1 as a genetic marker for OP in our population.


Bone mineral density Collagen I α1 gene Osteoporosis Sp1 polymorphism 



This study was supported by the National Council of Science and Technology (CONACYT) Project: Salud 2-2003-CO1-30.


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Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Edith Falcón-Ramírez
    • 1
  • Leonora Casas-Avila
    • 1
  • Antonio Miranda
    • 1
  • Pilar Diez
    • 2
  • Clementina Castro
    • 3
  • Julieta Rubio
    • 3
  • Rocío Gómez
    • 1
  • Margarita Valdés-Flores
    • 1
    Email author
  1. 1.Department of GeneticsNational Rehabilitation InstituteMexico CityMexico
  2. 2.Orthopedia ServiceNational Rehabilitation InstituteMexico CityMexico
  3. 3.Department of Genomic Medicine and Environmental ToxicologyBiomedical Investigation Institute, UNAMMexico CityMexico

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