title: Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes.
abstract: BACKGROUND
  The young-onset diabetes seen in HNF1A-MODY is often misdiagnosed as Type 2 diabetes. Type 2 diabetes, unlike HNF1A-MODY, is associated with insulin resistance and a characteristic dyslipidaemia. We aimed to compare the lipid profiles in HNF1A-MODY, Type 2 diabetes and control subjects and to determine if lipids can be used to aid the differential diagnosis of diabetes sub-type.
  
  
  METHODS
  1) 14 subjects in each group (HNF1A-MODY, Type 2 diabetes and controls) were matched for gender and BMI. Fasting lipid profiles and HDL lipid constituents were compared in the 3 groups. 2) HDL-cholesterol was assessed in a further 267 patients with HNF1A-MODY and 297 patients with a diagnosis of Type 2 diabetes to determine its discriminative value.
  
  
  RESULTS
  1) In HNF1A-MODY subjects, plasma-triglycerides were lower (1.36 vs. 1.93 mmol/l, p = 0.07) and plasma-HDL-cholesterol was higher than in subjects with Type 2 diabetes (1.47 vs. 1.15 mmol/l, p = 0.0008), but was similar to controls. Furthermore, in the isolated HDL; HDL-phospholipid and HDL-cholesterol ester content were higher in HNF1A-MODY, than in Type 2 diabetes (1.59 vs. 1.33 mmol/L, p = 0.04 and 1.10 vs. 0.83 mmol/L, p = 0.019, respectively), but were similar to controls (1.59 vs. 1.45 mmol/L, p = 0.35 and 1.10 vs. 1.21 mmol/L, p = 0.19, respectively). 2) A plasma-HDL-cholesterol > 1.12 mmol/L was 75% sensitive and 64% specific (ROC AUC = 0.76) at discriminating HNF1A-MODY from Type 2 diabetes.
  
  
  CONCLUSIONS
  The plasma-lipid profiles of HNF1A-MODY and the lipid constituents of HDL are similar to non-diabetic controls. However, HDL-cholesterol was higher in HNF1A-MODY than in Type 2 diabetes and could be used as a biomarker to aid in the identification of patients with HNF1A-MODY.
authors.affiliation: NIHR Clinical Research Facility, Peninsula College or Medicine and Dentistry, University of Exeter, Exeter, UK. Tim.McDonald@rdeft.nhs.uk
authors.forename: Tim J
authors.initials: TJ
authors.lastname: McDonald
authors.forename: Jane
authors.initials: J
authors.lastname: McEneny
authors.forename: Ewan R
authors.initials: ER
authors.lastname: Pearson
authors.forename: Gaya
authors.initials: G
authors.lastname: Thanabalasingham
authors.forename: Magdalena
authors.initials: M
authors.lastname: Szopa
authors.forename: Beverley M
authors.initials: BM
authors.lastname: Shields
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Katharine R
authors.initials: KR
authors.lastname: Owen
authors.forename: Maciej T
authors.initials: MT
authors.lastname: Malecki
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: Ian S
authors.initials: IS
authors.lastname: Young
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000097:blood* / Q000175:diagnosis*; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000097:blood*; D006801:Humans; D008074:Lipoproteins / Q000097:blood*; D008297:Male; D008875:Middle Aged; D014280:Triglycerides / Q000097:blood
chemical_list: D015415:Biomarkers; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D008074:Lipoproteins; D014280:Triglycerides