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The osteoporosis risk variant rs9820407 at 3p22.1 acts as an allele-specific enhancer to regulate CTNNB1 expression by long-range chromatin loop formation.

Bone - 1 Dec 2021

Wang Ya, Lu Li, Niu Yajing, Zhang Qiongdan, Cheng Chen, Huang Han, Huang Xinyao, Huang Qingyang

Abstract excerpt

Previous powerful genome-wide association studies (GWASs) and whole-genome sequencing have identified multiple single-nucleotide polymorphisms (SNPs) located over 69 kb upstream of CTNNB1 at 3p22.1 locus associated with osteoporosis. The CTNNB1 gene encodes β-catenin that is an integral part of adherens junctions and the primary mediator of the canonical Wnt signaling pathway. The causal variants and underlying...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34461284
DOI: 10.1016/j.bone.2021.116165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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