A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density
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...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2017/5831020 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Marisela Villalobos-Comparán |
| collection | DOAJ |
| description | 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 (n=420). The combined results of a meta-analysis from the discovery and replication samples identified two loci, RMND1 (rs6904364, P=2.77×10−4) and CCDC170 (rs17081341, P=1.62×10−5), 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. |
| format | Article |
| id | doaj-art-65c275ff37534991bfd8bb79dbcf6357 |
| institution | Kabale University |
| issn | 2314-436X 2314-4378 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-65c275ff37534991bfd8bb79dbcf63572025-02-03T05:50:26ZengWileyInternational Journal of Genomics2314-436X2314-43782017-01-01201710.1155/2017/58310205831020A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral DensityMarisela Villalobos-Comparán0Rogelio F. Jiménez-Ortega1Karol Estrada2Alma Y. Parra-Torres3Anahí González-Mercado4Nelly Patiño5Manuel Castillejos-López6Manuel Quiterio7Juan Carlos Fernandez-López8Bertha Ibarra9Sandra Romero-Hidalgo10Jorge Salmerón11Rafael Velázquez-Cruz12Consorcio de Genómica Computacional, Instituto Nacional de Medicina Genómica, Mexico City, MexicoLaboratorio de Genómica del Metabolismo Óseo, Instituto Nacional de Medicina Genómica, Mexico City, MexicoStatistical Genetics, Biogen, Cambridge, MA, USALaboratorio de Genómica del Metabolismo Óseo, Instituto Nacional de Medicina Genómica, Mexico City, MexicoCentro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoInstituto Nacional de Medicina Genómica, Mexico City, MexicoUnidad de Vigilancia Epidemiológica Hospitalaria, Instituto Nacional de Enfermedades Respiratorias, Mexico City, MexicoCentro de Investigación en Salud Poblacional, Instituto Nacional de Salud Pública, Cuernavaca, MOR, MexicoConsorcio de Genómica Computacional, Instituto Nacional de Medicina Genómica, Mexico City, MexicoCentro Universitario en Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, JAL, MexicoConsorcio de Genómica Computacional, Instituto Nacional de Medicina Genómica, Mexico City, MexicoCentro de Investigación en Salud Poblacional, Instituto Nacional de Salud Pública, Cuernavaca, MOR, MexicoLaboratorio de Genómica del Metabolismo Óseo, Instituto Nacional de Medicina Genómica, Mexico City, MexicoTo 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 (n=420). The combined results of a meta-analysis from the discovery and replication samples identified two loci, RMND1 (rs6904364, P=2.77×10−4) and CCDC170 (rs17081341, P=1.62×10−5), 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.http://dx.doi.org/10.1155/2017/5831020 |
| spellingShingle | 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 A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density International Journal of Genomics |
| title | A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density |
| title_full | A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density |
| title_fullStr | A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density |
| title_full_unstemmed | A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density |
| title_short | A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density |
| title_sort | pilot genome wide association study in postmenopausal mexican mestizo women implicates the rmnd1 ccdc170 locus is associated with bone mineral density |
| url | http://dx.doi.org/10.1155/2017/5831020 |
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