Sp1 polymorphism in collagen I α1 gene is associated with osteoporosis in lumbar spine of Mexican women.
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/cm(2)) in contrast to "SS" genotype (0.733 ± 0.039 g/cm(2); 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.
Falcón-Ramírez
Edith
E
Department of Genetics, National Rehabilitation Institute, Calzada Mexico-Xochimilco No. 289, Arenal de Guadalupe, Tlalpan, CP 14389 Mexico City, Mexico. edifal@yahoo.com.mx
Casas-Avila
Leonora
L
Miranda
Antonio
A
Diez
Pilar
P
Castro
Clementina
C
Rubio
Julieta
J
Gómez
Rocío
R
Valdés-Flores
Margarita
M
D000368:Aged; D001665:Binding Sites / Q000235:genetics*; D015519:Bone Density / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005819:Genetic Markers; D005828:Genetics, Population; D006801:Humans; D008159:Lumbar Vertebrae / Q000473:pathology*; D008800:Mexico; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic; D016329:Sp1 Transcription Factor
C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D005819:Genetic Markers; D016329:Sp1 Transcription Factor