Sp1 polymorphism in collagen I α1 gene is associated with osteoporosis in lumbar spine of Mexican women |
| |
Authors: | Edith Falcón-Ramírez Leonora Casas-Avila Antonio Miranda Pilar Diez Clementina Castro Julieta Rubio Rocío Gómez Margarita Valdés-Flores |
| |
Institution: | (1) Department of Genetics, National Rehabilitation Institute, Calzada Mexico-Xochimilco No. 289, Arenal de Guadalupe, Tlalpan, CP 14389 Mexico City, Mexico;(2) Orthopedia Service, National Rehabilitation Institute, Mexico City, Mexico;(3) Department of Genomic Medicine and Environmental Toxicology, Biomedical Investigation Institute, UNAM, Mexico City, Mexico |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|