Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans
9 páginas, 2 figuras, 3 tablas.-- Grupos de trabajo: HYPEST, BRIGHT.-- Putku, Margus et al.
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| Format: | artículo biblioteca |
| Language: | English |
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Wiley-Blackwell
2011-07
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| Subjects: | WNK1, Polymorphism screening, AluYb8, Blood pressure, Meta-analysis, |
| Online Access: | http://hdl.handle.net/10261/43578 |
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dig-ibe-es-10261-435782021-12-28T16:17:21Z Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans Putku, Margus Comas, David Laan, Maris WNK1 Polymorphism screening AluYb8 Blood pressure Meta-analysis 9 páginas, 2 figuras, 3 tablas.-- Grupos de trabajo: HYPEST, BRIGHT.-- Putku, Margus et al. 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 Africa (n = 854) indicated an expansion of the WNK1 AluYb8 bearing chromosomes out of Africa. The allele frequency in Sub-Saharan Africa was ∼3.3 times lower than in other populations (4.8 vs. 15.8%; P = 9.7 × 10−9). 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. The WNK1 AluYb8 insertion might affect human BP via altering the profile of alternatively spliced transcripts. This work forms part of the research themes contributing to the translational research portfolio for Barts and the London Cardiovascular Biomedical Research Unit, which is supported and funded by the National Institute of Health Research. K.K. has been supported by personal travel stipends from the Kristjan-Jaak Foundation and EC ECOGENE project. Peer reviewed 2011-12-21T10:19:07Z 2011-12-21T10:19:07Z 2011-07 artículo http://purl.org/coar/resource_type/c_6501 Human Mutation 32(7): 806-814 (2011) 1059-7794 http://hdl.handle.net/10261/43578 10.1002/humu.21508 1098-1004 21520334 en Postprint http://dx.doi.org/10.1002/humu.21508 Sí open Wiley-Blackwell |
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WNK1 Polymorphism screening AluYb8 Blood pressure Meta-analysis WNK1 Polymorphism screening AluYb8 Blood pressure Meta-analysis |
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WNK1 Polymorphism screening AluYb8 Blood pressure Meta-analysis WNK1 Polymorphism screening AluYb8 Blood pressure Meta-analysis Putku, Margus Comas, David Laan, Maris Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
| description |
9 páginas, 2 figuras, 3 tablas.-- Grupos de trabajo: HYPEST, BRIGHT.-- Putku, Margus et al. |
| format |
artículo |
| topic_facet |
WNK1 Polymorphism screening AluYb8 Blood pressure Meta-analysis |
| author |
Putku, Margus Comas, David Laan, Maris |
| author_facet |
Putku, Margus Comas, David Laan, Maris |
| author_sort |
Putku, Margus |
| title |
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
| title_short |
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
| title_full |
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
| title_fullStr |
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
| title_full_unstemmed |
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans |
| title_sort |
novel polymorphic aluyb8 insertion in the wnk1 gene is associated with blood pressure variation in europeans |
| publisher |
Wiley-Blackwell |
| publishDate |
2011-07 |
| url |
http://hdl.handle.net/10261/43578 |
| work_keys_str_mv |
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