Marcano, A. C. B. et al. (2007) Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension. Journal of Medical Genetics, 44(9), pp. 603-605. (doi: 10.1136/jmg.2007.049718)
Full text not currently available from Enlighten.
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 INPPL1polymorphisms 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.| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Dominiczak, Professor Anna and Connell, Professor John |
| Authors: | Marcano, A. C. B., Burke, B., Gungadoo, J., Wallace, C., Kaisaki, P. J., Woon, P. Y., Farrall, M., Clayton, D., Brown, M., Dominiczak, A., Connell, J. M., Webster, J., Lathrop, M., Caulfield, M., Samani, N., Gauguier, D., and Munroe, P. B. |
| College/School: | College of Medical Veterinary and Life Sciences College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health |
| Journal Name: | Journal of Medical Genetics |
| ISSN: | 0022-2593 |
| Related URLs: |
University Staff: Request a correction | Enlighten Editors: Update this record
Funder and Project Information
Funder and Project Information