Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension. Issue 9 (8th June 2007)

• Record Type: Journal Article
• Authors: Marçano, Ana Carolina Braga; Burke, Beverley; Gungadoo, Johannie; Wallace, Chris; Kaisaki, Pamela J; Woon, Peng Y; Farrall, Martin; Clayton, David; Brown, Morris; Dominiczak, Anna; Connell, John M; Webster, John; Lathrop, Mark; Caulfield, Mark; Samani, Nilesh; Gauguier, Dominique; Munroe, Patricia B
• Is Part Of: Journal of medical genetics. Volume 44:Issue 9(2007)
• Page Start: 603
• Page End: 605
• Publication Date: 2007-06-08
• Subjects: BRIGHT, British Genetics of Hypertension -- CEPH, Centre d'Etudes du Polymorphisme Humain -- DIF, Diabetes in Families -- EH, essential hypertension -- GK, Goto–Kakizaki -- HWE, Hardy–Weinberg equilibrium -- SHR, spontaneously hypertensive rat -- SNP, single nucleotide polymorphism -- TDT, transmission disequilibrium test; hypertension -- diabetes -- association -- INPPL1; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2007.049718
• Languages: English
• ISSNs: 1468-6244

Abstract

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.