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1.
J Med Genet ; 44(9): 603-5, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17557929

RESUMO

BACKGROUND: Inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) is a negative regulator of insulin signalling and has previously been found to be associated with hypertension, obesity and type 2 diabetes in a cohort of families with diabetes in the UK presenting features of metabolic syndrome. In particular, a haplotype of three genetic polymorphisms (rs2276047, rs9886 and an insertion/deletion polymorphism in intron 1) was found to be strongly associated with increased susceptibility to hypertension. OBJECTIVE AND METHODS: To assess if INPPL1 variants play a direct role in the development of essential hypertension, we genotyped the three previously associated INPPL1 polymorphisms in a cohort of 712 families with severe hypertension from the BRIGHT study transmission disequilibrium test cohort. RESULTS: We found no evidence of significant association between hypertension and any of the three INPPL1 polymorphisms or haplotypes (p>0.1). CONCLUSION: These results suggest that INPPL1 variants may be involved in mechanisms causing hypertension in metabolic syndrome patients specifically.


Assuntos
Hipertensão/genética , Síndrome Metabólica/complicações , Monoéster Fosfórico Hidrolases/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Coortes , Feminino , Haplótipos/genética , Humanos , Hipertensão/etiologia , Resistência à Insulina/genética , Desequilíbrio de Ligação , Masculino , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/fisiopatologia , Fosfatidilinositol-3,4,5-Trifosfato 5-Fosfatases , Deleção de Sequência , Reino Unido/epidemiologia
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