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Article

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

BMC genomics - 6 Sept 2012

de Jong Simone, Chepelev Iouri, Janson Esther, Strengman Eric, van den Berg Leonard H, Veldink Jan H, Ophoff Roel A

Abstract excerpt

BACKGROUND: Chromosome 17q21.31 contains a common inversion polymorphism of approximately 900 kb in populations with European ancestry. Two divergent MAPT haplotypes, H1 and H2 are described with distinct linkage disequilibrium patterns across the region reflecting the inversion status at this locus. The MAPT H1 haplotype has been associated with progressive supranuclear palsy, corticobasal degeneration,...

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Source

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Identifiers

PMID: 22950410
DOI: 10.1186/1471-2164-13-458
PMCID: PMC3582489

Genes

MAPT
CRHR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.PMID 22950410Read ↗

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