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Bones and fractures

Bone density is one of the more heritable things about a body — and the thing that actually matters, whether it breaks, is much harder to predict.

Why this topic Strength training became the default advice for everyone over forty, and the weight-loss drugs raised a question about what is lost along with the fat.

In the news

2026-07-10 · Chai RC, et al., Nature Genetics 2026, PMID:42432248

Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease

Which cells do the genes for bone density act in? This study mapped 34 distinct cell types in skeletal tissue with single-cell methods across species, then ranked them by enrichment for rare skeletal disorder genes and for bone-mineral-density genes from an extended UK Biobank genome-wide study (448,010 people of European ancestry in the GWAS Catalog's record), with functional validation in over 1,000 genetically modified mouse models. Beside the expected lineages that build and resorb bone — osteoblast, chondrocyte, osteoclast — two kinds of blood vessel cell, endothelial cells and vascular smooth muscle cells, emerged as newly relevant to skeletal disease. 249 of the study's positions are already on this site, 205 of them on the heel bone mineral density page, including rs7741021 (RSPO3), rs2982573 (ESR1) and rs4505759 (FGFRL1). PMID:42432248.

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What this topic connects to

Bones and fractures Variant: rs3736228 rs3736228 Variant Variant: rs2282679 rs2282679 Variant Variant: rs1801133 rs1801133 Variant Variant: rs7776725 rs7776725 Variant Variant: rs9939609 rs9939609 Variant Variant: +57 more +57 more Variant Bones and fractures Bones and fractures

Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.

Variants that share a paper with this

Counted in Europe PMC, where the title or abstract names both this topic and that rsID. The number is papers, not evidence of a cause.

rs3736228

LRP5

Bone mineral density

29 papers →

rs2282679

GC

Vitamin D levels

14 papers →

rs1801133

MTHFR

Folate metabolism (MTHFR C677T)

10 papers →

rs7776725

FAM3C

Bone mineral density (paediatric, total body less head)

9 papers →

rs9939609

FTO

Menarche (age at onset)

7 papers →

rs4988235

MCM6 / LCT

Lactose tolerance

6 papers →

rs671

ALDH2

Alcohol flush reaction

6 papers →

rs1800469

TGFB1

Colorectal cancer

5 papers →

rs4870044

ESR1

Bone mineral density (spine)

5 papers →

rs1021188

RANKL

Bone mineral density

4 papers →

rs1038304

ESR1

Bone mineral density (hip)

4 papers →

rs6265

BDNF

Smoking behavior

4 papers →

rs9930506

FTO

Obesity-related traits

4 papers →

rs11898505

SPTBN1

Bone mineral density (spine)

3 papers →

rs1421085

FTO

Obesity

3 papers →

rs1558902

FTO

Obesity

3 papers →

rs1799964

HLA-DQA2

Crohn's disease

3 papers →

rs1800437

GIPR

Obesity

3 papers →

rs3829251

NADSYN1

Vitamin D levels

3 papers →

rs429358

APOE

Lewy body disease

3 papers →

rs7524102

ZBTB40

Bone mineral density (spine)

3 papers →

rs9923231

VKORC1

Warfarin sensitivity

3 papers →

rs10416265

GPATCH1

Bone properties (heel)

2 papers →

rs10423928

GIPR

Obesity

2 papers →

rs11951031

MEF2C

Bone mineral density

2 papers →

rs1339227

RIMS1

Schizophrenia

2 papers →

rs1801131

MTHFR

Folate metabolism (MTHFR A1298C)

2 papers →

rs1815739

ACTN3

Muscle fiber type ("sprinter gene")

2 papers →

rs3020331

ESR1

Bone properties (heel)

2 papers →

rs365990

MYH6

Electrocardiographic traits

2 papers →

rs3794060

DHCR7

Systemic lupus erythematosus

2 papers →

rs8050136

FTO

Type 2 diabetes

2 papers →

rs1042725

HMGA2

Head circumference (infant)

1 paper →

rs115242848

EN1

Bone mineral density (spine)

1 paper →

rs11574914

CCL19

Rheumatoid arthritis

1 paper →

rs11684176

PLCL1

Systemic lupus erythematosus

1 paper →

rs1172822

BRSK1

Menarche and menopause (age at onset)

1 paper →

rs11889341

STAT4

Systemic lupus erythematosus

1 paper →

rs12150660

SHBG

Testosterone levels

1 paper →

rs12568930

near ZBTB40

Inflammatory bowel disease

1 paper →

rs13182402

ALDH7A1

Osteoporosis

1 paper →

rs17249754

ATP2B1

Blood pressure

1 paper →

rs17251221

CASR

Calcium levels

1 paper →

rs17277546

CYP3A4

Metabolic traits

1 paper →

rs174583

FADS2

QT interval

1 paper →

rs17563

BMP4

Primary tooth development (time to first tooth eruption)

1 paper →

rs1805096

LEPR

C-reactive protein

1 paper →

rs1990760

IFIH1

Type 1 diabetes

1 paper →

rs2046210

ESR1

Breast cancer

1 paper →

rs2070600

AGER

Pulmonary function

1 paper →

rs2074356

C12orf51

Renal function-related traits (BUN)

1 paper →

rs2241880

ATG16L1

Crohn's disease

1 paper →

rs2896019

PARVB

Hematological and biochemical traits

1 paper →

rs2982552

ESR1

Bone properties (heel)

1 paper →

rs4609139

C7orf58

Bone mineral density

1 paper →

rs494453

RAP1A

Osteoporosis-related phenotypes

1 paper →

rs577721086

RSPO3

Bone mineral density (spine)

1 paper →

rs603424

SCD

Metabolic traits

1 paper →

rs6726821

near GALNT3

Bone mineral density (paediatric, total body less head)

1 paper →

rs701006

OS9

Multiple sclerosis

1 paper →

rs776746

CYP3A5

CYP3A5 expression (*3 allele)

1 paper →

rs780094

GCKR

Uric acid levels

1 paper →

How this was counted

Europe PMC, title and abstract only, searched for “bone mineral density”, “osteoporosis”, “fracture risk” alongside each published rsID. Full text was not counted: it returns every paper with an rsID buried in a supplementary table. Recounted monthly.

Quoting this page

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Bones and fractures. MyGeneLog™. https://www.mygenelog.com/topics/bones

Questions about Bones and fractures

What is Bones and fractures?

Bones and fractures is this site's topic page for skeletal genetics — bone density is one of the more heritable things about a body, but whether a bone actually breaks is much harder to predict.

Is bone density genetic?

Yes, more than most body measurements — bone mineral density is one of the more heritable traits in medicine. But fracture risk, the thing that actually matters, is shaped by far more than density.

Why are bones and fractures a topic on this site now?

Strength training became the default advice for everyone over forty, and weight-loss drugs raised a new question about what else is lost along with the fat — including bone.

How does this site decide which variants are linked to bones and fractures?

Europe PMC is searched for bone mineral density, osteoporosis or fracture risk appearing in a paper's title or abstract alongside a published rsID, recounted every month.