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Article

Joint disease-specificity at the regulatory base-pair level.

Nature communications - 6 Jul 2021

Muthuirulan Pushpanathan, Zhao Dewei, Young Mariel, Richard Daniel, Liu Zun, Emami Alireza, Portilla Gabriela, Hosseinzadeh Shayan, Cao Jiaxue, Maridas David, Sedlak Mary, Menghini Danilo, Cheng Liangliang, Li Lu, Ding Xinjia, Ding Yan, Rosen Vicki, Kiapour Ata M, Capellini Terence D

Abstract excerpt

Given the pleiotropic nature of coding sequences and that many loci exhibit multiple disease associations, it is within non-coding sequence that disease-specificity likely exists. Here, we focus on joint disorders, finding among replicated loci, that GDF5 exhibits over twenty distinct associations, and we identify causal variants for two of its strongest associations, hip dysplasia and knee osteoarthritis. By...

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Share to Chondrocytes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genome-Wide Association Study

Share to Growth Differentiation Factor 5

Share to Osteoarthritis, Knee

Share to Regulatory Sequences, Nucleic Acid

Source

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Identifiers

PMID: 34230488
DOI: 10.1038/s41467-021-24345-9
PMCID: PMC8260791

Genes

GDF5

Provenance

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