title: Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension.
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
  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).
  
  
  CONCLUSIONS
  These results suggest that INPPL1 variants may be involved in mechanisms causing hypertension in metabolic syndrome patients specifically.
authors.forename: Ana Carolina Braga
authors.initials: AC
authors.lastname: Marçano
authors.forename: Beverley
authors.initials: B
authors.lastname: Burke
authors.forename: Johannie
authors.initials: J
authors.lastname: Gungadoo
authors.forename: Chris
authors.initials: C
authors.lastname: Wallace
authors.forename: Pamela J
authors.initials: PJ
authors.lastname: Kaisaki
authors.forename: Peng Y
authors.initials: PY
authors.lastname: Woon
authors.forename: Martin
authors.initials: M
authors.lastname: Farrall
authors.forename: David
authors.initials: D
authors.lastname: Clayton
authors.forename: Morris
authors.initials: M
authors.lastname: Brown
authors.forename: Anna
authors.initials: A
authors.lastname: Dominiczak
authors.forename: John M
authors.initials: JM
authors.lastname: Connell
authors.forename: John
authors.initials: J
authors.lastname: Webster
authors.forename: Mark
authors.initials: M
authors.lastname: Lathrop
authors.forename: Mark
authors.initials: M
authors.lastname: Caulfield
authors.forename: Nilesh
authors.initials: N
authors.lastname: Samani
authors.forename: Dominique
authors.initials: D
authors.lastname: Gauguier
authors.forename: Patricia B
authors.initials: PB
authors.lastname: Munroe
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000209:etiology / Q000235:genetics*; D007333:Insulin Resistance / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D024821:Metabolic Syndrome / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D010744:Phosphoric Monoester Hydrolases; C098706:INPPL1 protein, human; D000072183:Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases