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International Journal of Genomics
Volume 2017 (2017), Article ID 5831020, 13 pages
Research Article

A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density

1Consorcio de Genómica Computacional, Instituto Nacional de Medicina Genómica, Mexico City, Mexico
2Laboratorio de Genómica del Metabolismo Óseo, Instituto Nacional de Medicina Genómica, Mexico City, Mexico
3Statistical Genetics, Biogen, Cambridge, MA, USA
4Centro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, Mexico
5División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, JAL, Mexico
6Instituto Nacional de Medicina Genómica, Mexico City, Mexico
7Unidad de Vigilancia Epidemiológica Hospitalaria, Instituto Nacional de Enfermedades Respiratorias, Mexico City, Mexico
8Centro de Investigación en Salud Poblacional, Instituto Nacional de Salud Pública, Cuernavaca, MOR, Mexico
9Unidad de Investigación Epidemiológica y en Servicios de Salud, Instituto Mexicano del Seguro Social, Cuernavaca, MOR, Mexico

Correspondence should be addressed to Rafael Velázquez-Cruz

Received 28 December 2016; Revised 24 May 2017; Accepted 21 June 2017; Published 3 August 2017

Academic Editor: Graziano Pesole

Copyright © 2017 Marisela Villalobos-Comparán et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


To identify genetic variants influencing bone mineral density (BMD) in the Mexican-Mestizo population, we performed a GWAS for femoral neck (FN) and lumbar spine (LS) in Mexican-Mestizo postmenopausal women. In the discovery sample, 300,000 SNPs were genotyped in a cohort of 411 postmenopausal women and seven SNPs were analyzed in the replication cohort (). The combined results of a meta-analysis from the discovery and replication samples identified two loci, RMND1 (rs6904364, ) and CCDC170 (rs17081341, ), associated with FN BMD. We also compared our results with those of the Genetic Factors for Osteoporosis (GEFOS) Consortium meta-analysis. The comparison revealed two loci previously reported in the GEFOS meta-analysis: SOX6 (rs7128738) and PKDCC (rs11887431) associated with FN and LS BMD, respectively, in our study population. Interestingly, rs17081341 rare in Caucasians (minor allele frequency < 0.03) was found in high frequency in our population, which suggests that this association could be specific to non-Caucasian populations. In conclusion, the first pilot Mexican GWA study of BMD confirmed previously identified loci and also demonstrated the importance of studying variability in diverse populations and/or specific populations.