R A Hegele

Summary

Affiliation: John P. Robarts Research Institute
Country: Canada

Publications

  1. ncbi Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits
    Robert A Hegele
    Robarts Research Institute, London, Ontario, Canada
    Stroke 36:2566-70. 2005
  2. doi Polygenic determinants of severe hypertriglyceridemia
    Jian Wang
    Vascular Biology Research Group 2 Clinical Trials Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Hum Mol Genet 17:2894-9. 2008
  3. ncbi Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada
    Clin Genet 61:101-3. 2002
  4. ncbi Gender, obesity, hepatic nuclear factor-1alpha G319S and the age-of-onset of type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada
    Int J Obes Relat Metab Disord 24:1062-4. 2000
  5. ncbi Peroxisome proliferator-activated receptor-gamma2 P12A and type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, University of Western Ontario, London, Canada
    J Clin Endocrinol Metab 85:2014-9. 2000
  6. ncbi Clinical utility of HNF1A genotyping for diabetes in aboriginal Canadians
    R A Hegele
    John P Robarts Research Institute, and Department of Medicine, University of Western Ontario, London, Canada
    Diabetes Care 23:775-8. 2000
  7. ncbi Infection-susceptibility alleles of mannose-binding lectin are associated with increased carotid plaque area
    R A Hegele
    Robarts Research Institute, University of Western Ontario, London, Canada
    J Investig Med 48:198-202. 2000
  8. pmc Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes
    R A Hegele
    Robarts Research Institute, London, Ontario, Canada N6A 5K8
    Genome Res 10:652-8. 2000
  9. ncbi Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Roberts Research Institute, London, Ontario, Canada
    J Hum Genet 45:184-7. 2000
  10. ncbi NAT2 polymorphism associated with plasma glucose concentration in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    Pharmacogenetics 10:233-8. 2000

Collaborators

Detail Information

Publications124 found, 100 shown here

  1. ncbi Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits
    Robert A Hegele
    Robarts Research Institute, London, Ontario, Canada
    Stroke 36:2566-70. 2005
    ..We hypothesized that this polymorphism would be associated with carotid atherosclerosis in a sample of 150 aboriginal Canadians...
  2. doi Polygenic determinants of severe hypertriglyceridemia
    Jian Wang
    Vascular Biology Research Group 2 Clinical Trials Group, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Hum Mol Genet 17:2894-9. 2008
    ..At the extremes of a quantitative trait, such as severe HTG, are found the cumulative contributions of both multiple rare alleles with large genetic effects and common alleles with small effects...
  3. ncbi Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada
    Clin Genet 61:101-3. 2002
    ..However, the acanthocytosis - literally 'thorny' erythrocytes that result from abnormal membrane fluidity - persists despite treatment...
  4. ncbi Gender, obesity, hepatic nuclear factor-1alpha G319S and the age-of-onset of type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada
    Int J Obes Relat Metab Disord 24:1062-4. 2000
    ..One factor that might account for the gender difference in the onset of HNF1A S319-associated type 2 diabetes is the greater prevalence and severity, and earlier onset of, obesity among female Oji-Cree...
  5. ncbi Peroxisome proliferator-activated receptor-gamma2 P12A and type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, University of Western Ontario, London, Canada
    J Clin Endocrinol Metab 85:2014-9. 2000
    ....
  6. ncbi Clinical utility of HNF1A genotyping for diabetes in aboriginal Canadians
    R A Hegele
    John P Robarts Research Institute, and Department of Medicine, University of Western Ontario, London, Canada
    Diabetes Care 23:775-8. 2000
    ..To determine the diagnostic performance characteristics of HNF1A genotyping for diabetes and impaired glucose tolerance (IGT) in Canadian Oji-Cree Indians...
  7. ncbi Infection-susceptibility alleles of mannose-binding lectin are associated with increased carotid plaque area
    R A Hegele
    Robarts Research Institute, University of Western Ontario, London, Canada
    J Investig Med 48:198-202. 2000
    ..Thus, infection-susceptibility alleles of MBL were associated with increased CPA in this study sample; these alleles may be a determinant of interindividual differences in atherosclerosis risk...
  8. pmc Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes
    R A Hegele
    Robarts Research Institute, London, Ontario, Canada N6A 5K8
    Genome Res 10:652-8. 2000
    ..Thus, rare mutations in a nuclear structural protein can be associated with markedly abnormal qualitative and quantitative metabolic phenotypes..
  9. ncbi Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Roberts Research Institute, London, Ontario, Canada
    J Hum Genet 45:184-7. 2000
    ..Furthermore, our experience confirms the value of using several complementary strategies to identify susceptibility genes for a complex disease...
  10. ncbi NAT2 polymorphism associated with plasma glucose concentration in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    Pharmacogenetics 10:233-8. 2000
    ..However, NAT2 might be a 'modifier gene' affecting the level of glycaemia in non-diabetic subjects...
  11. ncbi Lipoprotein-genotype associations in Trinidadian neonates
    R A Hegele
    John P Robarts Research Institute, University of Western Ontario, London, Canada
    Clin Biochem 32:429-37. 1999
    ....
  12. ncbi The private hepatocyte nuclear factor-1alpha G319S variant is associated with plasma lipoprotein variation in Canadian Oji-Cree
    R A Hegele
    Robarts Research Institute, London, UK
    Arterioscler Thromb Vasc Biol 20:217-22. 2000
    ..These findings provide the first evidence that a rare variant in a nuclear transcription factor is associated with variation in plasma lipoprotein traits...
  13. ncbi Genetic prediction of atherosclerosis: lessons from studies in native Canadian populations
    R A Hegele
    John P Robarts Research Institute, Department of Medicine, University of Western Ontario, London, Canada
    Clin Chim Acta 286:47-61. 1999
    ..Such an intervention strategy would stress a return to a more traditional diet and lifestyle in order to avert and reverse these disease phenotypes in Canadian aboriginal communities...
  14. ncbi Absence of association between genetic variation in the LIPC gene promoter and plasma lipoproteins in three Canadian populations
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Department of Medicine, London, Ont, Canada
    Atherosclerosis 146:153-60. 1999
    ....
  15. ncbi LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada
    J Clin Endocrinol Metab 85:3089-93. 2000
    ..It also remains to be established whether the insulin resistance in FPLD is a consequence of the reduced plasma leptin or of another functional change resulting from mutant LMNA...
  16. ncbi Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy
    R A Hegele
    Robarts Research Institute and Department of Medicine, University of Western Ontario, London, Canada
    J Clin Endocrinol Metab 85:3431-5. 2000
    ....
  17. ncbi Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians
    R A Hegele
    John P Robarts Research Institute, Centre for Studies in Family Medicine, University of Western Ontario, London, Ontario N6A 5K8, Canada
    Physiol Genomics 3:39-44. 2000
    ..The results suggest that common genetic variation in LMNA may be an important determinant of plasma leptin and obesity-related quantitative traits...
  18. ncbi Environmental modulation of atherosclerosis end points in familial hypercholesterolemia
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, University of Western Ontario, 406 100 Perth Drive, London, ON, Canada N6A 5K8
    Atheroscler Suppl 2:5-7. 2002
    ..In some cases, the environment, including lifestyle factors, appears to play a key role in modulating the disease severity. This complexity could have implications for diagnosis and treatment...
  19. ncbi Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, London, Ontario, Canada
    J Hum Genet 46:423-5. 2001
    ..We report the systematic screening of RXRA coding regions by genomic DNA sequencing, which has resulted in the identification of three novel single-nucleotide polymorphisms...
  20. ncbi Common genomic variation in LMNA modulates indexes of obesity in Inuit
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada N6A 5K8
    J Clin Endocrinol Metab 86:2747-51. 2001
    ..The results indicate that common genetic variation in LMNA is an important determinant of obesity-related quantitative traits...
  21. ncbi Single-nucleotide polymorphisms of the nuclear lamina proteome
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, London, Ontario, Canada
    J Hum Genet 46:351-4. 2001
    ..However, the identification of amplification primers and SNPs provides tools to investigate these proteins for their association with other phenotypes...
  22. ncbi Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, London, Ontario, Canada
    J Hum Genet 46:320-4. 2001
    ..Thus, we report three new SNPs for the PNLIP, which may serve as markers for association analyses and for pharmacogenetic studies of pancreatic lipase inhibitors...
  23. ncbi Premature atherosclerosis associated with monogenic insulin resistance
    R A Hegele
    John P Robarts Research Institute, London, Ontario, Canada
    Circulation 103:2225-9. 2001
    ..Cardiovascular end points were thus evaluated in subjects with Dunnigan-type familial partial lipodystrophy (FPLD) due to mutations at LMNA codon 482...
  24. ncbi Molecular basis of partial lipodystrophy and prospects for therapy
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Trends Mol Med 7:121-6. 2001
    ....
  25. ncbi Genes and environment in type 2 diabetes and atherosclerosis in aboriginal Canadians
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, 406 100 Perth Drive, London, Ontario, N6A 5K8, Canada
    Curr Atheroscler Rep 3:216-21. 2001
    ..It is possible that the recent increase in CHD in the aboriginal people of northern Ontario is the result of the expression of diabetes susceptibility due to HNF1A S319 as a consequence of rapid changes in environment and lifestyle...
  26. ncbi Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations
    R A Hegele
    Department of Medicine, Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, University of Western Ontario, 406 100 Perth Drive, Ont, N6A 5K8, London, Canada
    Atherosclerosis 154:579-87. 2001
    ..The inconsistencies could be due to differences in genetic background or to unspecified environmental or genetic factors...
  27. ncbi Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome
    R A Hegele
    Robarts Research Institute, Ontario, London, Canada
    Mol Genet Metab 71:539-44. 2000
    ..The findings may have relevance for common insulin resistance and for drug-associated lipodystrophies, whose molecular basis is unknown at present...
  28. ncbi Insulin resistance in human partial lipodystrophy
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Curr Atheroscler Rep 2:397-404. 2000
    ....
  29. ncbi Association between AGT codon 235 polymorphism and variation in serum concentrations of creatinine and urea in Canadian Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    Clin Genet 55:438-43. 1999
    ..The findings suggest that the AGT T235 allele is a determinant of intermediate traits related to renal function in these aboriginal Canadians...
  30. ncbi Paraoxonase genes and disease
    R A Hegele
    John P Robarts Research Institute, Department of Medicine, University of Western Ontario, London, Canada
    Ann Med 31:217-24. 1999
    ....
  31. ncbi -6A promoter variant of angiotensinogen and blood pressure variation in Canadian Oji-Cree
    R A Hegele
    St Michael s Hospital, Toronto, Ontario, Canada
    J Hum Genet 43:37-41. 1998
    ..Our findings are consistent with a marginally deleterious effect of the AGT -6A allele on blood pressure, but linkage disequilibrium with another causative variant cannot be ruled out in this sample of aboriginal Canadians...
  32. ncbi Elevated LDL triglyceride concentrations in subjects heterozygous for the hepatic lipase S267F variant
    R A Hegele
    Robarts Research Institute, University of Western Ontario, London, Canada
    Arterioscler Thromb Vasc Biol 18:1212-6. 1998
    ..However, the mechanisms underlying this compositional change in LDL appear to be different for the 2 mutations, because the total TGs are also elevated in subjects heterozygous for apo CII-T but not in subjects heterozygous for HL S267F...
  33. ncbi G protein beta3 subunit gene variant and blood pressure variation in Canadian Oji-Cree
    R A Hegele
    Robarts Research Institute and Department of Medicine, Thames Valley Family Practice Research Unit, University of Western Ontario, London, Ontario, Canada
    Hypertension 32:688-92. 1998
    ..571 versus 0.496; P=NS), although this young sample had relatively few subjects with hypertension. The findings support an association of variation in this gene with variation in blood pressure...
  34. ncbi Increased plasma apolipoprotein B-containing lipoproteins associated with increased urinary albumin within the microalbuminuria range in type 2 diabetes
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, London, Ontario, Canada
    Clin Biochem 32:143-8. 1999
    ....
  35. ncbi Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree
    R A Hegele
    John P Robarts Research Institute, University of Western Ontario, London, Canada
    Clin Genet 54:394-9. 1998
    ..01). Taken together, our results suggest that common genetic variation on chromosome 7q21.3-22.1 in PON2 is associated with significant variation of intermediate traits in plasma lipoprotein metabolism...
  36. ncbi A review of intestinal fatty acid binding protein gene variation and the plasma lipoprotein response to dietary components
    R A Hegele
    John P Robarts Research Institute, University of Western Ontario, London, Canada
    Clin Biochem 31:609-12. 1998
    ..This amino acid variation has an in vitro functional impact. In addition, there have been several published associations with metabolic phenotypes, such as impaired glucose tolerance, obesity, altered plasma lipids and lipoproteins...
  37. ncbi Genome-wide scanning for type 2 diabetes susceptibility in Canadian Oji-Cree, using 190 microsatellite markers
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, London, Ontario, Canada
    J Hum Genet 44:10-4. 1999
    ..Thus, different marker sets will likely be required for different ethnic groups in order to maximize their information content for linkage calculations...
  38. ncbi The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree
    R A Hegele
    Robarts Research Institute, University of Western Ontario, London, Canada
    J Clin Endocrinol Metab 84:1077-82. 1999
    ..Also, G319S is associated with a distinct form of type 2 diabetes, characterized by onset at an earlier age, lower body mass, and a higher postchallenge plasma glucose...
  39. pmc G-protein beta3 subunit gene splice variant and body fat distribution in Nunavut Inuit
    R A Hegele
    Robarts Research Institute and Department of Medicine, University of Western Ontario, London, Ontario, Canada N6A5K8
    Genome Res 9:972-7. 1999
    ....
  40. ncbi Association between AGT T235 variant and microalbuminuria in Canadian Oji-Cree with type 2 diabetes mellitus
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    Clin Biochem 32:201-5. 1999
    ..To assess the association between the common variation in the gene encoding angiotensinogen, AGT, and the presence of microalbuminuria in Canadian Oji-Cree with type 2 diabetes mellitus...
  41. ncbi Genetic prediction of coronary heart disease: lessons from Canada
    R A Hegele
    John P Robarts Research Institute, Department of Medicine, University of Western Ontario, London, Canada
    Scand J Clin Lab Invest Suppl 230:153-67. 1999
    ..This might provide more time for health care providers and society to consider the possible implications--medical, ethical and legal--and limitations of the genetic prediction of CHD...
  42. ncbi Absence of association between genetic variation of the beta 3-adrenergic receptor and metabolic phenotypes in Oji-Cree
    R A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    Diabetes Care 21:851-4. 1998
    ..To assess the association between the common missense variant, Y64R, in the gene encoding the beta 3-adrenergic receptor, ADRB3, and intermediate phenotypes related to obesity and NIDDM in Canadian Oji-Cree...
  43. ncbi Common genomic variation in the APOC3 promoter associated with variation in plasma lipoproteins
    R A Hegele
    Department of Medicine, St Michael s Hospital, London, Canada
    Arterioscler Thromb Vasc Biol 17:2753-8. 1997
    ..However, the associations could also have resulted from linkage disequilibrium with other functional variants in APOC3 or the closely linked APOA1 and/or APOA4 genes...
  44. ncbi Common genomic variants associated with variation in plasma lipoproteins in young aboriginal Canadians
    R A Hegele
    Department of Medicine, St Michael s Hospital, Toronto, Ontario, Canada
    Arterioscler Thromb Vasc Biol 17:1060-6. 1997
    ..045, and P = .047, respectively). The average young age and relative absence of age-dependent secondary environmental factors could have eased the identification of small genetic effects on lipoprotein phenotypes in this study sample...
  45. ncbi Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus
    R A Hegele
    Department of Medicine, St Michael s Hospital, Toronto, Ontario, Canada
    J Clin Endocrinol Metab 82:3373-7. 1997
    ....
  46. ncbi Are Canadian Inuit at increased genetic risk for coronary heart disease?
    R A Hegele
    Department of Medicine, University of Toronto, Ontario, Canada
    J Mol Med (Berl) 75:364-70. 1997
    ..This suggests that differences in environment, such as the type of fatty acid consumed, interacts with functional differences in gene products involved in candidate metabolic pathways to produce phenotypic differences...
  47. ncbi Cross-sectional and prospective associations between proinsulin and cardiovascular disease risk factors in a population experiencing rapid cultural transition
    A J Hanley
    Department of Public Health Sciences, University of Toronto, Toronto, Ontario, Canada
    Diabetes Care 24:1240-7. 2001
    ..CONCLUSIONS: These results confirm previously reported cross-sectional associations between proinsulin and lipid concentrations. In addition, an unexpected association between baseline lipids and proinsulin change was documented...
  48. ncbi Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates
    R A Hegele
    John P Robarts Research Institute, University of Western Ontario, London, Canada
    Hum Biol 73:525-31. 2001
    ..It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations...
  49. ncbi Genetic variation of intestinal fatty acid-binding protein associated with variation in body mass in aboriginal Canadians
    R A Hegele
    St Michael s Hospital Health Sciences Research Center, Toronto, Ontario, Canada
    J Clin Endocrinol Metab 81:4334-7. 1996
    ..These findings suggest that the T54 variant of the intestinal fatty acid-binding protein is associated with differences in fat metabolism in this aboriginal population...
  50. ncbi Differences in risk factors, atherosclerosis, and cardiovascular disease between ethnic groups in Canada: the Study of Health Assessment and Risk in Ethnic groups (SHARE)
    S S Anand
    Department of Medicine, McMaster University, Ontario, Canada
    Lancet 356:279-84. 2000
    ..To establish whether this variation can be explained by differences in disease risk factors and subclinical atherosclerosis, we undertook a population-based study of three ethnic groups in Canada: South Asians, Chinese, and Europeans...
  51. ncbi Relation of waist circumference and glycemic status to C-reactive protein in the Sandy Lake Oji-Cree
    P W Connelly
    Department of Laboratory Medicine and Pathobiology, University of Toronto, ON, Canada
    Int J Obes Relat Metab Disord 27:347-54. 2003
    ....
  52. ncbi Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population
    R L Pollex
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute and University of Western Ontario, London, Ontario, Canada
    Int J Obes (Lond) 30:484-91. 2006
    ....
  53. ncbi Genetic and biochemical factors associated with variation in blood pressure in a genetic isolate
    R A Hegele
    Department of Medicine, St Michael s Hospital, University of Toronto, Ontario, Canada
    Hypertension 27:308-12. 1996
    ..The association between plasma apo B concentration and diastolic blood pressure suggests that these traits may share some determinants...
  54. pmc Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia
    D S Ng
    Department of Medicine, St Michael s Hospital, University of Toronto, Ontario, Canada
    J Clin Invest 93:223-9. 1994
    ..This kindred, the third reported apoA-I gene mutation causing isolated complete apoA-I deficiency, appears to be at significantly increased risk for atherosclerosis...
  55. ncbi ABCC6 gene polymorphism associated with variation in plasma lipoproteins
    J Wang
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, ON, Canada
    J Hum Genet 46:699-705. 2001
    ..The results suggest that ABCC6 may be a determinant of plasma lipoproteins...
  56. ncbi Angiotensinogen gene variation associated with variation in blood pressure in aboriginal Canadians
    R A Hegele
    St Michael s Hospital Health Sciences Research Centre, Toronto, Ontario, Canada
    Hypertension 29:1073-7. 1997
    ..The high frequency of the angiotensinogen T235 variant suggests that subjects in this young, essentially normotensive population might be predisposed to hypertension, which may become more apparent in the presence of secondary factors...
  57. ncbi Common and rare ABCA1 variants affecting plasma HDL cholesterol
    J Wang
    John P Robarts Research Institute, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 20:1983-9. 2000
    ....
  58. ncbi Identification of disulfide-linked apolipoprotein species in human lipoproteins
    P W Connelly
    Department of Biochemistry, University of Toronto, Ontario, Canada
    J Lipid Res 34:1717-27. 1993
    ..These results demonstrate that the molecular species of cysteine-containing apolipoproteins are complex and should be considered in studies of human lipoprotein composition and function...
  59. ncbi Variation in the AU(AT)-rich element within the 3'-untranslated region of PPP1R3 is associated with variation in plasma glucose in aboriginal Canadians
    R A Hegele
    Robarts Research Institute and Department of Medicine, University of Western Ontario, London, Canada
    J Clin Endocrinol Metab 83:3980-3. 1998
    ..These findings suggest that common PPPIR3 3'-UTR variation that potentially affects messenger ribonucleic acid stability is associated with variation in glycemia in Oji-Cree subjects with type 2 diabetes...
  60. ncbi Synergism between mutant HNF1A and the metabolic syndrome in Oji-Cree Type 2 diabetes
    R L Pollex
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute and University of Western Ontario, 100 Perth Drive, London, Ontario, Canada N6A 5KB
    Diabet Med 22:1510-5. 2005
    ..To determine the prevalence of the metabolic syndrome in the Sandy Lake Oji-Cree and to examine its interaction with HNF1A in association with impaired glucose tolerance and Type 2 diabetes...
  61. ncbi Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency
    R A Hegele
    Department of Medicine, University of Toronto, Ontario, Canada
    Biochem Biophys Res Commun 179:78-84. 1991
    ..We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M) underlies hepatic lipase deficiency...
  62. ncbi Intestinal fatty acid-binding protein variation associated with variation in the response of plasma lipoproteins to dietary fibre
    R A Hegele
    Department of Medicine, Faculty of Medicine, University of Toronto, Canada
    Eur J Clin Invest 27:857-62. 1997
    ..Genetic variation in FABP2 may thus contribute to interindividual variation in the response of plasma lipoproteins to different dietary fibres, but the mechanism does not appear to be related to increases in fecal bile acid secretion...
  63. ncbi Transforming growth factor-beta1 inhibits macrophage cholesteryl ester accumulation induced by native and oxidized VLDL remnants
    C A Argmann
    Department of Medicine, University of Western Ontario, London, Canada
    Arterioscler Thromb Vasc Biol 21:2011-8. 2001
    ..Thus, TGF-beta1 inhibits macrophage foam cell formation induced by VLDL-REMs or oxVLDL-REMs, which suggests an antiatherogenic role for this cytokine...
  64. ncbi Single nucleotide polymorphisms of the resistin (RSTN) gene
    H Cao
    Blackburn Cardiovascular Genetics Laboratory, John P Robarts Research Institute, London ON, Canada
    J Hum Genet 46:553-5. 2001
    ..The identification of amplification primers and SNPs provides tools to investigate resistin for association with other phenotypes...
  65. ncbi Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease
    A K Kang
    Department of Medicine, University of Toronto, Canada
    Mutat Res 382:57-65. 1997
    ....
  66. ncbi Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
    H Cao
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada
    Hum Mol Genet 9:109-12. 2000
    ..This is the first report of a mutation underlying a degenerative disorder of adipose tissue and suggests that LMNA mutations could underlie other diseases characterized by tissue type- and anatomical site-specific cellular degeneration...
  67. ncbi Human hepatic lipase mutations and polymorphisms
    R A Hegele
    DNA and Lipid Research Laboratories, St Michael s Hospital, Toronto, Ontario, Canada
    Hum Mutat 1:320-4. 1992
    ..Two variants (S267F and T383M) are rare mutations found to date only in HL deficient subjects and their relatives. Of the six HL variants described to date, only S267F and T383M are associated with hyperlipidemia...
  68. ncbi Genetic determinants of type 2 diabetes mellitus
    C P Busch
    John P. Robarts Research Institute, London, Ontario, Canada N6A 5K8
    Clin Genet 60:243-54. 2001
    ..To make sense of human type 2 diabetes in the post-genomic era, it is essential to have well-defined phenotypes in addition to sufficient numbers of individuals with the appropriate pedigree structure from families and/or communities...
  69. ncbi Activation of peroxisome proliferator-activated receptor gamma and retinoid X receptor results in net depletion of cellular cholesteryl esters in macrophages exposed to oxidized lipoproteins
    C A Argmann
    Department of Medicine and Robarts Research Institute, University of Western Ontario, London, Ontario, Canada N6A 5K8
    Arterioscler Thromb Vasc Biol 23:475-82. 2003
    ..The objective of this study was to determine whether activation of PPARgamma or its obligate heterodimer, retinoid X receptor (RXR), modulates macrophage foam cell formation induced by oxidized (ox) lipoproteins...
  70. ncbi Reference values of plasma apolipoproteins A-I and B, and association with nonlipid risk factors in the populations of two Canadian provinces: Quebec and Saskatchewan. Canadian Heart Health Surveys Research Group
    P W Connelly
    St Michael s Hospital and University of Toronto, Toronto, Canada
    Can J Cardiol 15:409-18. 1999
    ..To determine the population distribution of apolipoproteins A-I and B, and the relationship of apolipoprotein B to lipid risk factors for coronary artery disease...
  71. pmc Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample
    Matthew B Lanktree
    Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    J Lipid Res 50:1487-96. 2009
    ..The findings indicate the potential utility of the Illumina CVD beadchip, but they underscore the need to consider meta-analysis of results from commonly studied clinical or epidemiological samples...
  72. ncbi Identification of a dysfunctional missense single nucleotide variant of human adenylyl cyclase VI
    Robert Gros
    Cell Biology and Vascular Biology Research Groups, Robarts Research Institute, PO Box 5015, 100 Perth Dr, London, Ontario, Canada N6A 5K8
    Clin Pharmacol Ther 77:271-8. 2005
    ..001). In summary, these data demonstrate an unappreciated variant of adenylyl cyclase isoform VI that has a functional impact on both enzyme activity and cyclic adenosine monophosphate-mediated regulation of cell growth...
  73. ncbi Differences between carotid wall morphological phenotypes measured by ultrasound in one, two and three dimensions
    Khalid Al-Shali
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ont, Canada N6A 5K8
    Atherosclerosis 178:319-25. 2005
    ..Because the measurements have different implications and determinants, investigators might need to be selective about the particular measurements they choose for specific applications...
  74. ncbi Genomic copy number variation and its potential role in lipoprotein and metabolic phenotypes
    Rebecca L Pollex
    Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Curr Opin Lipidol 18:174-80. 2007
    ..This review examines the role of copy number variation in the human genome as a newly recognized determinant of lipoprotein and metabolic phenotypes...
  75. ncbi Genetic determinants of the metabolic syndrome
    Rebecca L Pollex
    Vascular Biology Group, Robarts Research Institute, London, ON, Canada
    Nat Clin Pract Cardiovasc Med 3:482-9. 2006
    ..Unresolved issues include the roles of gene-environment interactions, ethnicity, and sex. In this review, we look at the currently available evidence for common genes that predispose to the development of the metabolic syndrome...
  76. pmc Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
    Gordon A Francis
    Department of Medicine and Biochemistry, University of Alberta, Edmonton, Alberta, T6G 2S2, Canada
    BMC Med Genet 7:3. 2006
    ..Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition...
  77. ncbi Metabolic syndrome in aboriginal Canadians: prevalence and genetic associations
    Rebecca L Pollex
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, University of Western Ontario, London, Ont, Canada
    Atherosclerosis 184:121-9. 2006
    ..Since metabolic syndrome (MetS) increases risk of T2DM and CHD, we characterized prevalence and putative genetic determinants of MetS in Oji-Cree...
  78. ncbi Genetic and physiological insights into the metabolic syndrome
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Am J Physiol Regul Integr Comp Physiol 289:R663-9. 2005
    ....
  79. ncbi A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2
    Chantal F Morel
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
    J Clin Endocrinol Metab 91:2689-95. 2006
    ..To date, all cases of familial partial lipodystrophy type 2 (FPLD2; Mendelian Inheritance in Man 151660) result from missense mutations in LMNA, which encodes nuclear lamin A/C (Mendelian Inheritance in Man 150330)...
  80. pmc Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Diabetol 4:17. 2005
    ..The objective of this study was to investigate a possible role for the MTHFR 677C>T gene polymorphism with PAD in subjects with type 2 diabetes from an isolated aboriginal Canadian population...
  81. pmc Genetic determinants of statin intolerance
    Jisun Oh
    Schulich School of Medicine and Dentistry, University of Western Ontario and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Lipids Health Dis 6:7. 2007
    ..We studied 133 subjects who developed myopathy on statin monotherapy and 158 matched controls who tolerated statins without incident or complaint...
  82. ncbi Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario, 406 100 Perth Drive, London, ON N6A 5K8, Canada
    Genome 49:1343-50. 2006
    ....
  83. ncbi Genetics of metabolic syndrome: is there a role for phenomics?
    Tisha Joy
    Robarts Research Institute, 406 100 Perth Drive, London, Ontario, N6A 5K8, Canada
    Curr Atheroscler Rep 10:201-8. 2008
    ....
  84. pmc Adipokines and incident type 2 diabetes in an Aboriginal Canadian [corrected] population: the Sandy Lake Health and Diabetes Project
    Sylvia H Ley
    Department of Nutritional Sciences, University of Toronto, Toronto, Ontario, Canada
    Diabetes Care 31:1410-5. 2008
    ....
  85. pmc Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample
    Salam A Al-Attar
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Cardiovasc Diabetol 7:5. 2008
    ..The objective of this study is to examine whether this association extends to metabolic syndrome (MetS) and applies in non-Caucasian samples...
  86. ncbi Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders
    Piya Lahiry
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Int J Circumpolar Health 66:390-400. 2007
    ..We undertook studies of the association between common genomic variations in APOC3, APOA5, APOE and PON1 genes and variation in biochemical phenotypes in a sample of Greenlanders...
  87. pmc Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
    Henian Cao
    Vascular Biology Group, Robarts Research Institute, London, Ontario, Canada
    Lipids Health Dis 7:3. 2008
    ..From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen the coding regions of human CAV1 (MIM 601047)...
  88. pmc Alstrom syndrome (OMIM 203800): a case report and literature review
    Tisha Joy
    Department of Vascular Biology and Medicine, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Orphanet J Rare Dis 2:49. 2007
    ..Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described...
  89. pmc Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample
    Rebecca L Pollex
    Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    BMC Med Genet 8:80. 2007
    ..The objective of this study is to examine the APOC3 -455T>C and the INSIG2 rs7566605 polymorphisms as potential genetic determinants for MetS in a multi-ethnic sample...
  90. ncbi Phenomics, lamin A/C, and metabolic disease
    Robert A Hegele
    J Clin Endocrinol Metab 92:4566-8. 2007
  91. ncbi Genetic determinants of plasma lipoproteins
    Rebecca L Pollex
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Room 406, 100 Perth Drive, London, ON N6A 5K8, Canada
    Nat Clin Pract Cardiovasc Med 4:600-9. 2007
    ..Here, we review recent progress on genomic variants and cholesterol metabolism, and discuss the impact these genetic studies will have on clinical cardiology...
  92. ncbi Increased enzyme activity and beta-adrenergic mediated vasodilation in subjects expressing a single-nucleotide variant of human adenylyl cyclase 6
    Robert Gros
    Robarts Research Institute, P O Box 5015, 100 Perth Drive, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 27:2657-63. 2007
    ..Therefore, we assessed the effect of the expression of a recently identified missense genetic variant of adenylyl cyclase isoform 6 (ADCY6 S674)...
  93. ncbi Peroxisome proliferator-activated receptor gamma polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes
    Rebecca L Pollex
    Robarts Research Institute, London, Ontario, Canada N6A 5K8
    J Diabetes Complications 21:166-71. 2007
    ..The objective of this study was to investigate a possible role for the P12A PPARgamma gene polymorphism with diabetic nephropathy in an isolated aboriginal Canadian population at high risk for renal disease...
  94. ncbi Phenomics and lamins: from disease to therapy
    Robert A Hegele
    Schulich School of Medicine and Dentistry, University of Western Ontario and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada N6A 5K8
    Exp Cell Res 313:2134-43. 2007
    ....
  95. ncbi Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY)
    James L McKinney
    Robarts Research Institute, London, Ont
    Clin Invest Med 27:135-41. 2004
    ..We studied Canadian probands to determine if they had mutations in MODY2 or MODY3 genes...
  96. ncbi Associations of plasma homocysteine and the methylenetetrahydrofolate reductase C677T polymorphism with carotid intima media thickness among South Asian, Chinese and European Canadians
    Linda E Kelemen
    Department of Health Sciences Research, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, USA
    Atherosclerosis 176:361-70. 2004
    ..Few studies have evaluated the associations of plasma homocysteine concentration, the methylenetetrahydrofolate reductase (MTHFR) C677T genotype and B vitamin concentration with intima media thickness (IMT) in multiethnic populations...
  97. ncbi Thr325Ile polymorphism of the TAFI gene is related to TAFI antigen plasma levels and angiographic restenosis after percutaneous coronary interventions
    Amit Segev
    The Roy and Ann Foss Cardiovascular Research Program, Division of Cardiology, Terrence Donnelly Heart Center, St Michael s Hospital, 30 Bond Street, University of Toronto, Toronto, Ontario M5B 1W8, Canada
    Thromb Res 114:137-41. 2004
    ..The aims of this study were to evaluate the relationship between Thr325Ile polymorphisms, plasma levels of TAFI antigen, and late angiographic restenosis after percutaneous coronary intervention (PCI)...
  98. ncbi Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory and Vascular Biology Research Group, Robarts Research Institute, London, Ontario, Canada
    Arterioscler Thromb Vasc Biol 23:111-6. 2003
    ..Although common insulin resistance is associated with several biochemical perturbations, including elevated C-reactive protein (CRP), the biochemical profile in subjects with mutant LMNA is incompletely defined...
  99. ncbi PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
    Robert A Hegele
    Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406 100 Perth Drive, London, Ontario, Canada N6A 5K8
    Diabetes 51:3586-90. 2002
    ..Our findings are consistent with the idea that mutant PPARG can underlie the partial lipodystrophy phenotype...
  100. ncbi GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)
    Henian Cao
    Robarts Research Institute, London, Ontario, Canada
    Hum Mutat 20:478-9. 2002
    ..The novel mutations expand the spectrum of MODY mutations. In addition, knowledge of the specific defect can be used to pre-symptomatically identify family members at risk for developing MODY...
  101. ncbi Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol
    Golyar Keyhan
    Robarts Research Institute and Division of Endocrinology, Department of Medicine, University of Western Ontario, London, Ontario, Canada
    Clin Biochem 35:341-6. 2002
    ..However, there is little information regarding the extent of plasma HDL lowering when exogenous testosterone is used in subjects with monogenic low HDL...