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

Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tõnisson N, HYPertension in ESTonia (HYPEST)Shaw-Hawkins S, Caulfield MJ, BRItish Genetics of HyperTension (BRIGHT)Khusnutdinova E, Kožich V, Munroe PB, Laan M - Hum. Mutat. (2011)

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.

View Article: PubMed Central - PubMed

Affiliation: Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

Show MeSH

Related in: MedlinePlus

Detection of the presence of WNK1 intron 10 AluYb8 insertion in primates. Agarose gel (3%) electrophoresis of WNK1 intron 10 PCR products amplified from human, chimpanzee, gorilla, and orangutan genomic DNAs. In humans, alternative genotype carriers are shown: wild-type homozygote without AluYb8 insertion (−/−, PCR product 353 bp); heterozygous (A/−) and homozygous (A/A, PCR product 660 bp) carriers of the insertion
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3298642&req=5

fig01: Detection of the presence of WNK1 intron 10 AluYb8 insertion in primates. Agarose gel (3%) electrophoresis of WNK1 intron 10 PCR products amplified from human, chimpanzee, gorilla, and orangutan genomic DNAs. In humans, alternative genotype carriers are shown: wild-type homozygote without AluYb8 insertion (−/−, PCR product 353 bp); heterozygous (A/−) and homozygous (A/A, PCR product 660 bp) carriers of the insertion

Mentions: For large-scale genotyping of WNK1 AluYb8 in humans PCR followed by standard agarose gel electrophoresis was used. The primer design (WNK1_Alu_F: 5′-GGGTAACCAACCCTTGAAGTAGG-3′; WNK1_Alu_R: 5′-GGGTACTTCTCAAGTGATTAGGAGGA-3′) was carried out using the Web-based program Primer3 [Rozen and Skaletsky, 2000]. Quality control of the genotyping by agarose gel electrophoresis was assured by including previously resequenced positive controls representing alternative genotype carriers on each gel: wild-type (PCR product 353 bp); heterozygous (PCR products 353 and 660 bp) and homozygous (PCR product 660 bp) individuals for the AluYb8 insertion (Fig. 1; Supp. Figs. S1 and S2). The distribution of the WNK1 AluYb8 insertion was studied in six European (Estonians, n = 100; Czech, n = 50; CEPH, n = 30; the Basque, n = 50; Catalans, n = 41; Spanish Gypsies, n = 50), four Asian (Koreans, n = 43; Chinese Han, n = 25; Tatars, n = 47; Bashkir, n = 47), and eight African populations (Tunisians, n = 48; Algerians, n = 48; Moroccans, n = 84; Mandenkalu, n = 24; Saharawi, n = 50; Gabon Bantus, n = 50; Gabon Pygmies, n = 50; Tanzanians, n = 17).


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

Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tõnisson N, HYPertension in ESTonia (HYPEST)Shaw-Hawkins S, Caulfield MJ, BRItish Genetics of HyperTension (BRIGHT)Khusnutdinova E, Kožich V, Munroe PB, Laan M - Hum. Mutat. (2011)

Detection of the presence of WNK1 intron 10 AluYb8 insertion in primates. Agarose gel (3%) electrophoresis of WNK1 intron 10 PCR products amplified from human, chimpanzee, gorilla, and orangutan genomic DNAs. In humans, alternative genotype carriers are shown: wild-type homozygote without AluYb8 insertion (−/−, PCR product 353 bp); heterozygous (A/−) and homozygous (A/A, PCR product 660 bp) carriers of the insertion
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3298642&req=5

fig01: Detection of the presence of WNK1 intron 10 AluYb8 insertion in primates. Agarose gel (3%) electrophoresis of WNK1 intron 10 PCR products amplified from human, chimpanzee, gorilla, and orangutan genomic DNAs. In humans, alternative genotype carriers are shown: wild-type homozygote without AluYb8 insertion (−/−, PCR product 353 bp); heterozygous (A/−) and homozygous (A/A, PCR product 660 bp) carriers of the insertion
Mentions: For large-scale genotyping of WNK1 AluYb8 in humans PCR followed by standard agarose gel electrophoresis was used. The primer design (WNK1_Alu_F: 5′-GGGTAACCAACCCTTGAAGTAGG-3′; WNK1_Alu_R: 5′-GGGTACTTCTCAAGTGATTAGGAGGA-3′) was carried out using the Web-based program Primer3 [Rozen and Skaletsky, 2000]. Quality control of the genotyping by agarose gel electrophoresis was assured by including previously resequenced positive controls representing alternative genotype carriers on each gel: wild-type (PCR product 353 bp); heterozygous (PCR products 353 and 660 bp) and homozygous (PCR product 660 bp) individuals for the AluYb8 insertion (Fig. 1; Supp. Figs. S1 and S2). The distribution of the WNK1 AluYb8 insertion was studied in six European (Estonians, n = 100; Czech, n = 50; CEPH, n = 30; the Basque, n = 50; Catalans, n = 41; Spanish Gypsies, n = 50), four Asian (Koreans, n = 43; Chinese Han, n = 25; Tatars, n = 47; Bashkir, n = 47), and eight African populations (Tunisians, n = 48; Algerians, n = 48; Moroccans, n = 84; Mandenkalu, n = 24; Saharawi, n = 50; Gabon Bantus, n = 50; Gabon Pygmies, n = 50; Tanzanians, n = 17).

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.

View Article: PubMed Central - PubMed

Affiliation: Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

Show MeSH
Related in: MedlinePlus