Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.
Bottom Line: Meta-analysis across three European sample sets (n = 3,494; HYPEST, Estonians; BRIGHT, the British; CADCZ, Czech) detected significant association of the WNK1 AluYb8 insertion with blood pressure (BP; systolic BP, P = 4.03 × 10(-3) , effect 1.12; diastolic BP, P = 1.21 × 10(-2) , effect 0.67).Gender-stratified analysis revealed that this effect might be female-specific (n = 2,088; SBP, P = 1.99 × 10(-3) , effect 1.59; DBP P = 3.64 × 10(-4) , effect 1.23; resistant to Bonferroni correction), whereas no statistical support was identified for the association with male BP (n = 1,406).In leucocytes, the expressional proportions of the full-length WNK1 transcript and the splice-form skipping exon 11 were significantly shifted in AluYb8 carriers compared to noncarriers.
Affiliation: Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.Show MeSH
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Mentions: Relative expression analysis of three WNK1 splice forms (ex+11+12, ex−11+12, and ex−11−12; Fig. 2A) was performed with real-time PCR. Primer-probe mix of the WNK1 transcript including exon 11 (ex+11+12; Hs01018312_m1, amplicon size 78 bp) and selected reference gene HPRT1 [Human HPRT1 (HGPRT) Endogenous Control (VIC/MGB Probe, Primer Limited, amplicon size 100 bp)] were purchased from Applied Biosystems, Inc. (Foster City, CA). Primers and probes for the WNK1 transcripts lacking exon 11 (ex−11+12) and both exons 11 and 12 (ex−11−12) were designed using Primer Express version 3.0 (Applied Biosystems Inc.). Oligonucleotide sequences are given in Supp. Table S4.
Affiliation: Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.