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Background  Osteoporosis, a disease characterized by low bone mineral density (BMD), is an important health problem in Mexico. BMD is a highly heritable trait, with heritability estimates of 50-85%. Several candidate genes have been evaluated to identify those involved in BMD variation and the etiology of osteoporosis. This study investigated the possible association of single-nucleotide polymorphisms (SNPs) in the  MEF2C ,  SOST  and  JAG1  genes with bone mineral density (BMD) variation in postmenopausal Mexican-Mestizo women.    Methods  Four hundred unrelated postmenopausal women were included in the study. Risk factors were recorded and BMD was measured in total hip, femoral neck and lumbar spine using dual-energy X-ray absorptiometry. In an initial stage, a total of twenty-five SNPs within or near  SOST  gene and seven SNPs in the  JAG1  gene were genotyped using a GoldenGate assay. In a second stage, three  MEF2C  gene SNPs were also genotyped and  SOST  and  JAG1  gene variants were validated. Real time PCR and TaqMan probes were used for genotyping.    Results  Linear regression analyses adjusted by age, body mass index and ancestry estimates, showed that five SNPs in the  SOST  gene were significantly associated with BMD in total hip and femoral neck but not lumbar spine. The lowest  p  value was 0.0012, well below the multiple–test significance threshold ( p  = 0.009), with mean effect size of -0.027 SD per risk allele. We did not find significant associations between BMD and  MEF2C / JAG1  gene variants [rs1366594 “A” allele: β = 0.001 (95% CI -0.016; 0.017),  P  = 0.938; rs2273061 “G” allele: β = 0.007 (95% CI -0.007; 0.023),  p  = 0.409].    Conclusions   SOST  polymorphisms may contribute to total hip and femoral neck BMD variation in Mexican postmenopausal women. Together, these and prior findings suggest that this gene may contribute to BMD variation across populations of diverse ancestry.    Electronic supplementary material  The online version of this article (doi:10.1186/1471-2474-15-400) contains supplementary material, which is available to authorized users.

Analysis of association of MEF2C, SOST and JAG1 genes with bone mineral density in Mexican-Mestizo postmenopausal women