Expressive

rs10037512 (MEF2C-AS1): Bone Mineral Density

Key takeaways

  • rs10037512, near MEF2C-AS1, is associated with bone mineral density in middle-aged and elderly Chinese adults.
  • The association was identified in a study of 5,428 participants and replicated in the Biobank Japan project.
  • No specific effect size for this variant is reported in the available study data.
  • Evidence is limited to East Asian populations; replication in other ancestry groups is not reported in the provided studies.

Key takeaways

  • rs10037512, near MEF2C-AS1, is associated with bone mineral density in middle-aged and elderly Chinese adults.
  • The association was identified in a study of 5,428 participants and replicated in the Biobank Japan project.
  • No specific effect size for this variant is reported in the available study data.
  • Evidence is limited to East Asian populations; replication in other ancestry groups is not reported in the provided studies.

What the research says rs10037512 (the MEF2C-AS1 locus) was identified as one of 12 genetic variants significantly associated with bone mineral density (BMD) in a genome-wide association study (GWAS) of 5,428 middle-aged and elderly Chinese participants in the Shanghai Changfeng Study. BMD was measured at the lumbar spine, total hip, and specific hip sites using dual-energy X-ray absorptiometry (DXA), and associations were tested with a mixed linear model adjusting for age, age squared, sex, menopausal status, height, and weight. The association was subsequently replicated in the Biobank Japan (BBJ) project, providing cross-cohort support within East Asian populations. Enrichment analysis across the 12 identified loci linked Chinese elderly BMD genetics to pathways involving ossification, bone resorption, sex hormones, and kidney physiology.

Reported associations

  • Bone mineral density (lumbar spine and hip sites): rs10037512 was found among 12 loci significantly associated with BMD at any measured site in a GWAS of Chinese adults (n=5,428); replicated in the Biobank Japan project. No per-allele effect size is reported in the available study text.
  • Sex-specific effects: rs10037512 was not reported as one of the loci showing sex-specific associations in this study, unlike three other identified variants that were associated with BMD only in men or only in women.

Evidence quality The evidence for rs10037512 rests on a single discovery GWAS in a Chinese cohort (n=5,428) with replication in the Biobank Japan project. No specific p-value, odds ratio, or beta coefficient is reported in the provided study text for this variant. For context, other large-scale BMD meta-analyses across European and multiethnic samples have included 44,000 to 66,000 individuals and identified 30 to 80 or more loci; whether rs10037512 appears in those analyses cannot be confirmed from the provided studies. Replication in non-East-Asian populations is not reported in the available data. The evidence should be considered preliminary and geographically limited to East Asian cohorts.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Diet

  • adequate daily calcium intake Moderate

    Genetic predisposition to lower BMD increases reliance on dietary factors to maintain bone mineral content and density

    1000-1200 mg elemental calcium daily via food sources (dairy, fortified foods, leafy greens) or supplements if needed

Exercise

  • regular weight-bearing exercise Moderate

    Genetic predisposition to lower BMD increases importance of weight-bearing mechanical loading to maintain bone density

    150+ minutes weekly of weight-bearing aerobic activity (walking, jogging, dancing) plus 2x weekly resistance training

Screening

  • bone mineral density via DEXA scan High

    rs10037512 C allele is strongly associated with reduced bone mineral density across multiple skeletal sites and populations (femoral neck, forearm, lumbar spine)

    Establish baseline DEXA scan; monitor per clinical guidelines (typically every 1-2 years if abnormal findings)

Frequently asked questions

What is MEF2C-AS1?

MEF2C-AS1 is a gene locus that has been linked to bone mineral density. The variant rs10037512, located near this gene, was identified in a genome-wide association study of Chinese adults and replicated in a Japanese biobank.

Is rs10037512 linked to osteoporosis?

rs10037512 has been associated with bone mineral density, a key measure used to evaluate osteoporosis risk. The association was found in a Chinese population study and replicated in Biobank Japan, but evidence is preliminary and limited to East Asian cohorts in the available studies.

What is bone mineral density and why does it matter genetically?

Bone mineral density (BMD) measures the amount of mineral in your bones and is used to assess bone strength and fracture risk. Genome-wide association studies have identified many variants influencing BMD, and rs10037512 near MEF2C-AS1 is one found in East Asian populations.

Was rs10037512 found in European populations?

The available studies report this variant's association with BMD in a Chinese cohort and its replication in the Biobank Japan project. No replication in European ancestry populations is reported in the provided studies.

How was rs10037512 discovered?

rs10037512 was identified in a genome-wide association study of 5,428 middle-aged and elderly Chinese individuals in the Shanghai Changfeng Study, using dual-energy X-ray absorptiometry to measure bone density at the lumbar spine and hip.