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Article

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.

Human mutation - 1 Jul 2011

Putku Margus, Kepp Katrin, Org Elin, Sõber Siim, Comas David, Viigimaa Margus, Veldre Gudrun, Juhanson Peeter, Hallast Pille, Tõnisson Neeme, Shaw-Hawkins Sue, Caulfield Mark J, Khusnutdinova Elza, Kožich Viktor, Munroe Patricia B, Laan Maris

Abstract excerpt

Mutations in WNK1 and WNK4 cause familial hypertension, the Gordon syndrome. WNK1 and WNK4 conserved noncoding regions were targeted to polymorphism screening using DHPLC and DGGE. The scan identified an undescribed polymorphic AluYb8 insertion in WNK1 intron 10. Screening in primates revealed that this Alu-insertion has probably occurred in human lineage. Genotyping in 18 populations from Europe, Asia, and...

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Source

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Identifiers

PMID: 21520334
DOI: 10.1002/humu.21508
PMCID: PMC3298642

Genes

WNK1
WNK4
DBP

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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