rs143384

This is a regulatory region variant variant in the GDF5 gene.

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GWAS Catalog Trait Associations (34)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.06

p —

N 525,444

Large GWAS

multi-ancestry

Wood AR et al. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature Genetics 46(11):1173-86 (2014)

Allele G

OR 0.07

p 1.0e-121

N 253,288

Large GWAS

European

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)

Allele G

OR —

β 0.063

p 1.0e-58

N 133,653

Large GWAS

European

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele G

OR 0.07

p 5.0e-33

N 77,890

Large GWAS

South Asian

Chiou JS et al. “Your height affects your health: genetic determinants and health-related outcomes in Taiwan.” Bmc Medicine 20(1):250 (2022)

Allele G

OR 0.07

p 4.0e-40

N 67,452

Large GWAS

East Asian

Fernández-Rhodes L et al. “Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium.” Hgg Advances 3(2):100099 (2022)

Allele G

OR 0.05

p 7.0e-18

N 59,771

Major Consortium StudyLarge GWAS

Hispanic or Latin American

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)

Allele G

OR 0.08

p 4.0e-36

N 57,129

Large GWAS

European

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)

Allele A

OR 0.07

p 7.0e-319

N 450,243

Major Consortium StudyLarge GWAS

European

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)

Allele A

OR 0.10

p 6.0e-23

N 85,750

Large GWAS

European

body height, body weights and measures

Galván-Femenía I et al. “Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.” Journal of Medical Genetics 55(11):765-778 (2018)

Allele G

OR 0.06

p 9.0e-292

N 4,988

Large GWAS

European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele A

OR 0.03

p 4.0e-185

N 405,979

Large GWAS

European

whole body water mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.03

p 3.0e-172

N 394,642

Large GWAS

European

base metabolic rate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.03

p 5.0e-151

N 394,642

Large GWAS

European

Attaway AH et al. “Gene polymorphisms associated with heterogeneity and senescence characteristics of sarcopenia in chronic obstructive pulmonary disease.” Journal of Cachexia, Sarcopenia and Muscle 14(2):1083-1095 (2023)

Allele G

OR 66.41

p 1.0e-8

N 32,426

Large GWAS

European

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)

Allele G

OR 0.03

p 2.0e-133

N 337,739

Large GWAS

European

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.02

p 9.0e-78

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.03

p 3.0e-57

N 525,535

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.03

p 1.0e-66

N 394,642

Large GWAS

European

Tachmazidou I et al. “Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.” American Journal of Human Genetics 100(6):865-884 (2017)

Allele A

OR 0.04

p 2.0e-10

N 57,043

Large GWAS

European

grip strength measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele A

OR 0.02

p 2.0e-52

N 404,112

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 9.0e-40

N 394,642

Large GWAS

European

Jones G et al. “Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.” Nature Communications 12(1):654 (2021)

Allele A

OR 0.05

p 4.0e-13

N 256,523

Meta-analysisLarge GWAS

European

neck of femur size

Tobias JH et al. “Femoral neck width genetic risk score is a novel independent risk factor for hip fractures.” Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research 39(3):241-251 (2024)

Allele G

OR 0.10

p 2.0e-47

N 38,150

Large GWAS

European

Styrkarsdottir U et al. “GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.” Nature Communications 10(1):2054 (2019)

Allele G

OR —

β 0.046

p 3.0e-10

N 28,954

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

4 submitters1 publication

not specified; Multiple synostoses syndrome 2; Acromesomelic dysplasia 2B; Acromesomelic dysplasia 2C, Hunter-Thompson type; Grebe syndrome; Brachydactyly; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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Functional analysis of the osteoarthritis susceptibility–associated GDF5 regulatory polymorphism

FunctionalRainer J. Egli et al.(2009)· Arthritis & Rheumatism

This functional study investigated the GDF5 SNP rs143383 (T-to-C), an established osteoarthritis susceptibility variant. Using differential allelic expression analysis in multiple joint tissues from OA patients, the authors demonstrated that the OA-risk T allele shows consistently reduced expression (mean T/C ratio 0.79) across all joint tissues tested, not just cartilage. They identified a second regulatory variant rs143384 in the GDF5 5'-UTR that modulates rs143383's effect, and a third variant (2250ct) in the 3'-UTR that acts independently to reduce expression. EMSA assays revealed that the transcription factor DEAF-1 binds preferentially to the T allele at rs143383.

Traits studied:Osteoarthritis

PubMed DOI Metascience Observatory

About GDF5

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

rs143384

GWAS Catalog Trait Associations (34)

body height

appendicular lean mass

body height, body weights and measures

health trait

whole body water mass

base metabolic rate measurement

lean body mass

body weight

grip strength measurement

neck of femur size

ClinVar annotation

Research that mentions this SNP (1)

About GDF5

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