Literature DB >> 17557929

Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension.

Ana Carolina Braga Marçano, Beverley Burke, Johannie Gungadoo, Chris Wallace, Pamela J Kaisaki, Peng Y Woon, Martin Farrall, David Clayton, Morris Brown, Anna Dominiczak, John M Connell, John Webster, Mark Lathrop, Mark Caulfield, Nilesh Samani, Dominique Gauguier, Patricia B Munroe.   

Abstract

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.

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Year:  2007        PMID: 17557929      PMCID: PMC2597941          DOI: 10.1136/jmg.2007.049718

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  14 in total

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