Edith Falcón-Ramírez1, Alberto Hidalgo-Bravo1, Blanca Alicia Barredo-Prieto1, Ernesto Pineda-Gómez2, Margarita Valdés-Flores3. 1. Departamento de Genética, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco No. 289, Arenal de Guadalupe, Tlalpan, 14389, Mexico City, Mexico. 2. Servicio de Traumatología, Instituto Nacional de Rehabilitación, Mexico City, Mexico. 3. Departamento de Genética, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco No. 289, Arenal de Guadalupe, Tlalpan, 14389, Mexico City, Mexico. efalcon2005@gmail.com.
Abstract
BACKGROUND AND AIMS: Osteoporosis leads to high fracture risk and evidence suggests that genetic factors play an important role in this disease. The aim was to evaluate the association of two polymorphisms (-1997G/T, +1245G/T) in the collagen type1 alpha 1 gene (COL1A1) with fracture or with low bone mineral density (BMD) at the hip in postmenopausal Mexican women. METHODS: BMD was determined by bone densitometry and the risk factors were collected with a questionnaire. Genotyping was performed by real-time PCR. RESULTS: The polymorphisms were in Hardy-Weinberg equilibrium. The -1997G/+1245T haplotype showed, after adjustment for confounders, a fourfold increased risk of hip fracture [OR 4.32; p = 0.041 (95 % CI 1.07-17.43)]; while in the women with low BMD at the hip, the risk was increased threefold [OR 3.36; p = 0.022 (95 % CI 1.20-9.40)]. CONCLUSIONS: The results support the association of COL1A1 gene polymorphisms with fracture and with low BMD at the hip in Mexican population.
BACKGROUND AND AIMS: Osteoporosis leads to high fracture risk and evidence suggests that genetic factors play an important role in this disease. The aim was to evaluate the association of two polymorphisms (-1997G/T, +1245G/T) in the collagen type1 alpha 1 gene (COL1A1) with fracture or with low bone mineral density (BMD) at the hip in postmenopausal Mexican women. METHODS: BMD was determined by bone densitometry and the risk factors were collected with a questionnaire. Genotyping was performed by real-time PCR. RESULTS: The polymorphisms were in Hardy-Weinberg equilibrium. The -1997G/+1245T haplotype showed, after adjustment for confounders, a fourfold increased risk of hip fracture [OR 4.32; p = 0.041 (95 % CI 1.07-17.43)]; while in the women with low BMD at the hip, the risk was increased threefold [OR 3.36; p = 0.022 (95 % CI 1.20-9.40)]. CONCLUSIONS: The results support the association of COL1A1 gene polymorphisms with fracture and with low BMD at the hip in Mexican population.
Entities:
Keywords:
COL1A1 haplotypes; Hip fracture; Osteoporosis; Polymorphisms
Authors: Marisela Villalobos-Comparán; Rogelio F Jiménez-Ortega; Karol Estrada; Alma Y Parra-Torres; Anahí González-Mercado; Nelly Patiño; Manuel Castillejos-López; Manuel Quiterio; Juan Carlos Fernandez-López; Bertha Ibarra; Sandra Romero-Hidalgo; Jorge Salmerón; Rafael Velázquez-Cruz Journal: Int J Genomics Date: 2017-08-03 Impact factor: 2.326