A D Paterson

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. pmc Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications G
    Hussam Al-Kateb
    Program in Genetics and Genome Biology, The Hospital for Sick Children, TMDT Building East Tower, Rm 15 707, 101 College St, Toronto, Ontario, Canada
    Diabetes 57:218-28. 2008
  2. pmc Identifying rare variants from exome scans: the GAW17 experience
    Saurabh Ghosh
    Human Genetics Unit, Indian Statistical Institute, Kolkata 700018, India
    BMC Proc 5:S1. 2011
  3. pmc Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data
    Pingzhao Hu
    The Centre for Applied Genomics TCAG and Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, Toronto, ON M5G 1L7, Canada
    BMC Proc 5:S45. 2011
  4. pmc A genome-wide linkage study of mammographic density, a risk factor for breast cancer
    Celia M T Greenwood
    Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, East Tower, Toronto, ON M5G 1L7, Canada
    Breast Cancer Res 13:R132. 2011
  5. doi request reprint Does familial clustering of risk factors for long-term diabetic complications leave any place for genes that act independently?
    Andrew D Paterson
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Cardiovasc Transl Res 5:388-98. 2012
  6. pmc Genome-wide linkage analyses of quantitative and categorical autism subphenotypes
    Xiao Qing Liu
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Biol Psychiatry 64:561-70. 2008
  7. pmc Pathway-based analysis of a genome-wide case-control association study of rheumatoid arthritis
    Joseph Beyene
    Biostatistics Methodology Unit, Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    BMC Proc 3:S128. 2009
  8. pmc The multiplicity problem in linkage analysis of gene expression data - the power of differentiating cis- and trans-acting regulators
    Baisong Huang
    Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada
    BMC Proc 1:S142. 2007
  9. pmc Genome-wide association analysis of cardiovascular-related quantitative traits in the Framingham Heart Study
    Nicole M Roslin
    Program in Genetics and Genome Biology, MaRS Centre, The Hospital for Sick Children Research Institute, 101 College Street, Toronto, Ontario M5G 1L7, Canada
    BMC Proc 3:S117. 2009
  10. pmc Sex, age and generation effects on genome-wide linkage analysis of gene expression in transformed lymphoblasts
    Jagadish Rangrej
    Programs in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, TMDT East Tower, Toronto, Ontario M5G 1X8 Canada
    BMC Proc 1:S92. 2007

Detail Information

Publications86

  1. pmc Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications G
    Hussam Al-Kateb
    Program in Genetics and Genome Biology, The Hospital for Sick Children, TMDT Building East Tower, Rm 15 707, 101 College St, Toronto, Ontario, Canada
    Diabetes 57:218-28. 2008
    ..Despite familial clustering of nephropathy and retinopathy severity in type 1 diabetes, few gene variants have been consistently associated with these outcomes...
  2. pmc Identifying rare variants from exome scans: the GAW17 experience
    Saurabh Ghosh
    Human Genetics Unit, Indian Statistical Institute, Kolkata 700018, India
    BMC Proc 5:S1. 2011
    ....
  3. pmc Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data
    Pingzhao Hu
    The Centre for Applied Genomics TCAG and Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, Toronto, ON M5G 1L7, Canada
    BMC Proc 5:S45. 2011
    ..We demonstrate that this approach may be better than studying single rare variants or a gene risk score for identifying individuals with significantly greater risk...
  4. pmc A genome-wide linkage study of mammographic density, a risk factor for breast cancer
    Celia M T Greenwood
    Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, East Tower, Toronto, ON M5G 1L7, Canada
    Breast Cancer Res 13:R132. 2011
    ..Mammographic breast density is a highly heritable (h2 > 0.6) and strong risk factor for breast cancer. We conducted a genome-wide linkage study to identify loci influencing mammographic breast density (MD)...
  5. doi request reprint Does familial clustering of risk factors for long-term diabetic complications leave any place for genes that act independently?
    Andrew D Paterson
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Cardiovasc Transl Res 5:388-98. 2012
    ....
  6. pmc Genome-wide linkage analyses of quantitative and categorical autism subphenotypes
    Xiao Qing Liu
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Biol Psychiatry 64:561-70. 2008
    ..Another strategy is to analyze subsets of families that meet certain clinical criteria to reduce genetic heterogeneity...
  7. pmc Pathway-based analysis of a genome-wide case-control association study of rheumatoid arthritis
    Joseph Beyene
    Biostatistics Methodology Unit, Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    BMC Proc 3:S128. 2009
    ....
  8. pmc The multiplicity problem in linkage analysis of gene expression data - the power of differentiating cis- and trans-acting regulators
    Baisong Huang
    Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada
    BMC Proc 1:S142. 2007
    ....
  9. pmc Genome-wide association analysis of cardiovascular-related quantitative traits in the Framingham Heart Study
    Nicole M Roslin
    Program in Genetics and Genome Biology, MaRS Centre, The Hospital for Sick Children Research Institute, 101 College Street, Toronto, Ontario M5G 1L7, Canada
    BMC Proc 3:S117. 2009
    ..The power to detect association with changes over time may be limited if the subjects are not followed over a long enough time period...
  10. pmc Sex, age and generation effects on genome-wide linkage analysis of gene expression in transformed lymphoblasts
    Jagadish Rangrej
    Programs in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, TMDT East Tower, Toronto, Ontario M5G 1X8 Canada
    BMC Proc 1:S92. 2007
    ..However, there were minimal changes in the linkage results. CONCLUSION : The effect of age on linkage analyses was apparent for the expression of many genes, which appear to be mostly due to differences between the generations...
  11. pmc Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes
    Jemila S Hamid
    Biostatistics Methodology Unit, Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, 555 University Avenue Toronto, Ontario M5G 1X8, Canada
    BMC Proc 3:S44. 2009
    ..We illustrate our approach using independent observations from the offspring cohort of the Framingham Heart Study data...
  12. pmc A genome scan for parent-of-origin linkage effects in alcoholism
    Xiao Qing Liu
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    BMC Genet 6:S160. 2005
    ..Alcoholism is a complex disease in which genomic imprinting may play an important role in its susceptibility...
  13. pmc An analysis of identical single-nucleotide polymorphisms genotyped by two different platforms
    Brian K Suarez
    Department of Psychiatry, Washington University School of Medicine, St Louis, MO, USA
    BMC Genet 6:S152. 2005
    ..Some of this clustering may be due to the presence of a second segregating SNP that obliterates a XbaI site (the restriction enzyme used in the Affymetrix platform), resulting in a fragment too long (>1,000 bp) to be amplified...
  14. pmc Evaluating outlier loci and their effect on the identification of pedigree errors
    Ke Sheng Wang
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    BMC Genet 6:S155. 2005
    ..Outlier loci did not make a major difference to the identification of pedigree errors. The Collaborative Study on the Genetics of Alcoholism data has pedigree errors and some of them may be due to sample mix up...
  15. pmc Genetic analysis of common factors underlying cardiovascular disease-related traits
    Xiao Qing Liu
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    BMC Genet 4:S56. 2003
    ..Principal component factor analysis was applied to obtain the factors that were then analyzed using variance components linkage analysis...
  16. pmc Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity
    Joan Wither
    Arthritis Centre of Excellence, Division of Genetics and Development, Toronto Western Hospital Research Institute, University Health Network, Toronto, Ontario, Canada
    Arthritis Res Ther 10:R108. 2008
    ..Here, we used flow cytometry to investigate whether some of the immune abnormalities that are seen in the peripheral blood lymphocyte population of lupus patients are seen in their first-degree relatives...
  17. pmc ANKH variants associated with ankylosing spondylitis: gender differences
    Hing Wo Tsui
    Toronto Western Research Institute, Toronto, Ontario, Canada
    Arthritis Res Ther 7:R513-25. 2005
    ..These findings support the concept that ANKH plays a role in genetic susceptibility to AS and reveals a gender-genotype specificity in this interaction...
  18. pmc The effect of intensive diabetes treatment on resting heart rate in type 1 diabetes: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications study
    Andrew D Paterson
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, TMDT Building East Tower, Room 15 707, 101 College St, Toronto, ON M5G 1L7, Canada
    Diabetes Care 30:2107-12. 2007
    ..We hypothesized that intensive diabetes treatment aimed to achieve normal A1C levels has an effect on RHR in individuals with type 1 diabetes...
  19. ncbi request reprint Genetic epidemiology of type 1 diabetes
    Andrew D Paterson
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto Medical Discovery East Tower, Toronto, Ontario M5G 1L7, Canada
    Curr Diab Rep 6:139-46. 2006
    ..Some common themes are identified and suggestions for improvements are made. We look forward to the results from genome-wide association studies...
  20. pmc A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose
    Andrew D Paterson
    Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada
    Diabetes 59:539-49. 2010
    ..To identify such loci in type 1 diabetes, we analyzed longitudinal repeated measures of A1C from the Diabetes Control and Complications Trial...
  21. pmc Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin
    Andrew D Paterson
    Hospital for Sick Children, Toronto, Ontario, Canada
    Arterioscler Thromb Vasc Biol 29:1958-67. 2009
    ..Although E-selectin levels are heritable, little is known about the specific genetic factors involved. E-selectin levels have been associated with the ABO blood group phenotype...
  22. pmc Transmission-ratio distortion in the Framingham Heart Study
    Andrew D Paterson
    Program in Genetics and Genome Biology, Hospital for Sick Children, 101 College Street, TMDT East Tower, Toronto, ON M5G 1X8 Canada
    BMC Proc 3:S51. 2009
    ....
  23. pmc Transmission ratio distortion in families from the Framingham Heart Study
    Andrew D Paterson
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    BMC Genet 4:S48. 2003
    ..Such observations may have implications for the mapping of loci for complex disease and quantitative traits in human pedigrees...
  24. ncbi request reprint Age of diagnosis-based linkage analysis in type 1 diabetes
    A D Paterson
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Eur J Hum Genet 8:145-8. 2000
    ..Age of diagnosis-based heterogeneity analyses in complex diseases may be particularly helpful in mapping some susceptibility loci...
  25. ncbi request reprint Genetic anticipation and breast cancer: a prospective follow-up study
    A D Paterson
    Clarke Division, Center for Addiction and Mental Health, Toronto, Ontario, Canada
    Breast Cancer Res Treat 55:21-8. 1999
    ..We discuss the limitations of our analysis, including the problem of adequate sample size for this new statistical test...
  26. ncbi request reprint IDDM9 and a locus for rheumatoid arthritis on chromosome 3q appear to be distinct
    A D Paterson
    Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Ontario, Canada
    Hum Immunol 60:883-5. 1999
    ..Furthermore, there is no evidence for linkage to IDDM9 in females with rheumatoid arthritis...
  27. ncbi request reprint Sex of affected sibpairs and genetic linkage to type 1 diabetes
    A D Paterson
    Clarke Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet 84:15-9. 1999
    ..Several biological explanations are possible for these findings, including X and Y linkage, effects of sex hormones on gene expression, and quasi-linkage between sex chromosomes and autosomes...
  28. ncbi request reprint Sixth World Congress of Psychiatric Genetics X Chromosome Workshop
    A D Paterson
    Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Ontario, Canada
    Am J Med Genet 88:279-86. 1999
    ..Negative results for transmission disequilibrium of polymorphisms of HTR2C and MAOA with autism were provided from German and Austrian families...
  29. pmc Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
    Y Pei
    Division of Genomic Medicine, Department of Medicine, University Health Network, Toronto, Ontario, Canada
    Am J Hum Genet 68:355-63. 2001
    ..The presence of bilineal disease as a confounder needs to be considered seriously in the search for the elusive PKD3 locus...
  30. pmc An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus
    J B Vincent
    Department of Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
    Am J Hum Genet 66:819-29. 2000
    ..The high frequency of large alleles at this locus is inconsistent with the much rarer occurrence of SCA8. Thus, it seems unlikely that expansion alone causes SCA8; other genetic mechanisms may be necessary to explain SCA8 etiology...
  31. ncbi request reprint Transmission ratio distortion in females on chromosome 10p11-p15
    A D Paterson
    Neurogenetics Section, Clarke Division, Centre for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet 88:657-61. 1999
    ..Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:657-661, 1999...
  32. doi request reprint Association between IGF1 CA microsatellites and mammographic density, anthropometric measures, and circulating IGF-I levels in premenopausal Caucasian women
    Gordon Fehringer
    Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada
    Breast Cancer Res Treat 116:413-23. 2009
    ..Therefore, we examined the association of IGF1 polymorphisms with circulating IGF-I levels and mammographic density...
  33. ncbi request reprint Clustering of pedigrees using marker allele frequencies: impact on linkage analysis
    J Grigull
    Neuroscience Unit, Toronto Western Research Institute, Toronto, Ontario, Canada
    Genet Epidemiol 21:S61-6. 2001
    ..Use of marker data may assist in clustering pedigrees with similar, ethnic backgrounds and may increase the power for genetic linkage studies...
  34. ncbi request reprint A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13
    S H E Zaidi
    Division of Cardiology, Department of Medicine, Toronto General Hospital, 200 Elizabeth Street, Toronto, Ontario, Canada M5G 2C4
    Clin Genet 67:183-8. 2005
    ..In the PTGIS gene promoter, the affected child was homozygous for eight variable number of tandem repeats, while parents and unaffected siblings carried six repeats...
  35. ncbi request reprint Long repeat tracts at SCA8 in major psychosis
    J B Vincent
    Neurogenetics Section, Clarke Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet 96:873-6. 2000
    ..Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873-876, 2000...
  36. pmc An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster
    J B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    J Med Genet 43:429-34. 2006
    ..3)). We have determined that this inversion is inherited from an apparently unaffected mother and unaffected maternal grandfather. Methods/..
  37. ncbi request reprint Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease
    Andrew D Paterson
    Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Kidney Dis 40:16-20. 2002
    ..Mutations in one of two genes, PKD1 and PKD2, account for the disease in most ADPKD families. Despite the relative high frequency of PKD1 mutant alleles, compound heterozygotes or diseased homozygotes have not been described...
  38. pmc A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22
    E Heon
    Vision Science Research Program, The Toronto Western Hospital UHN, Toronto, Ontario, M5T 2S8, Canada
    Am J Hum Genet 68:772-7. 2001
    ..7. The study of this progressive and age-related cataract phenotype may provide insight into the cause of the more common sporadic form of age-related cataracts...
  39. ncbi request reprint Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin
    N L M Chan
    Cancer Research Program, The Hospital for Sick Children, 555 University Avenue, Toronto M5G 1X8, Canada
    Placenta 25:208-17. 2004
    ..Thus, blood vessels from HHT1 individuals are maintained intact in the umbilical vein and placenta during pregnancy and delivery, despite a significant reduction in endoglin expression...
  40. pmc Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population
    J C Y Loo
    Department of Medical Biophysics, University of Toronto, Toronto, Canada
    J Med Genet 42:e30. 2005
  41. ncbi request reprint The unstable trinucleotide repeat story of major psychosis
    J B Vincent
    Department of Genetics at the Hospital for Sick Children, Toronto, Canada
    Am J Med Genet 97:77-97. 2000
    ..These findings, reviewed here, suggest that, although a major role for unstable trinucleotides in psychosis is unlikely, involvement at a more modest level in a minority of cases cannot be excluded, and warrants further investigation...
  42. ncbi request reprint Genetic dissection of B cell traits in New Zealand black mice. The expanded population of B cells expressing up-regulated costimulatory molecules shows linkage to Nba2
    J E Wither
    Arthritis Centre of Excellence, The Toronto Hospital Research Institute, The Toronto Western Hospital, Toronto, Canada
    Eur J Immunol 30:356-65. 2000
    ....
  43. ncbi request reprint Stratified false discovery control for large-scale hypothesis testing with application to genome-wide association studies
    Lei Sun
    Department of Public Health Sciences, University of Toronto, and Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Canada
    Genet Epidemiol 30:519-30. 2006
    ..2005] Am. J. Hum. Genet. 77:685-693) illustrates the potential advantages of control or estimation of FDR by stratum. Our analyses also show that controlling FDR at a low rate, e.g. 5% or 10%, may not be feasible for some GWA studies...
  44. ncbi request reprint Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis
    Florence W L Tsui
    Toronto Western Research Institute and University of Toronto, Toronto, Ontario, Canada
    Arthritis Rheum 48:791-7. 2003
    ..To use a candidate gene approach for the identification of genetic markers that are significantly linked to and associated with ankylosing spondylitis (AS)...
  45. ncbi request reprint Mammographic breast density as an intermediate phenotype for breast cancer
    Norman F Boyd
    Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, Toronto, Canada
    Lancet Oncol 6:798-808. 2005
    ....
  46. ncbi request reprint Sex-specific effect of insulin-dependent diabetes 4 on regulation of diabetes pathogenesis in the nonobese diabetic mouse
    Evgueni A Ivakine
    Program in Developmental Biology, Hospital for Sick Children, Toronto, Canada
    J Immunol 174:7129-40. 2005
    ..Additional studies will be required to address the question of whether a sex-specific effect of Idd4, observed in this study, is also present in the spontaneous model of the disease with striking female bias...
  47. ncbi request reprint Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36
    Andrew D Paterson
    Hospital for Sick Children, University of Toronto, Ontario, Canada M5G 2N2
    J Am Soc Nephrol 18:2408-15. 2007
    ..Taken together, these data provide strong evidence for a novel disease susceptibility locus for familial IgAN...
  48. doi request reprint High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis
    Proton Rahman
    Centre for Prognosis Studies in the Rheumatic Diseases, Toronto Western Research Institute, Toronto Western Hospital, 399 Bathurst Street, 1E 410B, Toronto, Ontario M5T 2S8, Canada
    Ann Rheum Dis 70:690-4. 2011
    ..The study primary objective was to identify single nucleotide polymorphisms (SNPs) independent of known human leucocyte antigen (HLA) alleles within the MHC region that are associated with PsA using a high-density SNP map...
  49. ncbi request reprint Schizophrenia: an epigenetic puzzle?
    A Petronis
    Department of Psychiatry, University of Toronto, Centre of Addiction and Mental Health, Ontario, Canada
    Schizophr Bull 25:639-55. 1999
    ..In addition, the epigenetic model may lead to experiments investigating the molecular substrates of genetic-environmental interactions...
  50. pmc Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
    E M Chan
    Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, 555 University Ave, Toronto, Ontario M5G 1X8, Canada
    J Med Genet 40:671-5. 2003
    ..It causes severe seizures, leading to dementia and eventually death in early adulthood...
  51. pmc IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy
    Xiao Qing Liu
    Program in Genetics and Genome Biology, Hospital for Sick Children, University Health, Network and University of Toronto, Toronto, Ontario, Canada
    J Am Soc Nephrol 19:1025-33. 2008
    ..Pending replication, these data suggest that variants of IL5RA and TNFRSF6B may predispose to sporadic IgAN...
  52. pmc CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
    Abdul Noor
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada
    Am J Hum Genet 82:1011-8. 2008
    ..Identifying the function of CC2D2A, and a possible common pathway with CC2D1A, in correct neuronal development and functioning may help identify possible therapeutic targets for MR...
  53. doi request reprint Family-based genetic association study of insulin-like growth factor I microsatellite markers and premenopausal breast cancer risk
    Gordon Fehringer
    Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada
    Breast Cancer Res Treat 118:415-24. 2009
    ..14; 5'CA 18-20, P = 0.25; 5'CA >20, P = 0.20). The associations we found could be due to chance as many comparisons were made. Our results do not strongly support an association between these IGF1 variants and breast cancer risk...
  54. pmc Genetic variation of DKK3 may modify renal disease severity in ADPKD
    Michelle Liu
    Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    J Am Soc Nephrol 21:1510-20. 2010
    ..DKK3 antagonizes Wnt/beta-catenin signaling, which may modulate renal cyst growth. Pending replication, our study suggests that genetic variation of DKK3 may modify severity of ADPKD resulting from PKD1 mutations...
  55. pmc Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies
    Yun J Yoo
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ont, Canada
    Genet Epidemiol 34:107-18. 2010
    ..The methods are implemented as a user-friendly software package, SFDR. The same stratification framework can be readily applied to other type of studies, for example, using GWA results to improve the power of sequencing data analyses...
  56. ncbi request reprint Multiple variants in vascular endothelial growth factor (VEGFA) are risk factors for time to severe retinopathy in type 1 diabetes: the DCCT/EDIC genetics study
    Hussam Al-Kateb
    Program in Genetics and Genome Biology, Hospital of Sick Children Research Institute, Toronto, ON, Canada
    Diabetes 56:2161-8. 2007
    ..We sought to determine if any common variants in the gene for vascular endothelial growth factor (VEGFA) are associated with long-term renal and retinal complications in type 1 diabetes...
  57. ncbi request reprint Expanded repeat in canine epilepsy
    Hannes Lohi
    The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Science 307:81. 2005
    ..Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy...
  58. ncbi request reprint Thymectomy and radiation-induced type 1 diabetes in nonlymphopenic BB rats
    Sheela Ramanathan
    Sunnybrook and Women s College Health Sciences Centre, University of Toronto, Ontario, Canada
    Diabetes 51:2975-81. 2002
    ..This novel model of TX-R-induced diabetes in nonlymphopenic BB rats can be used to identify environmental and cellular factors that are responsible for the initiation of antipancreatic autoimmunity...
  59. pmc Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study
    Andrew P Boright
    Department of Medicine, University Health Network, University of Toronto, Toronto, Canada
    Diabetes 54:1238-44. 2005
    ..41 [0.22-0.78], P = 0.006). Our findings in the DCCT/EDIC cohort provide strong evidence that genetic variation at the ACE gene is associated with the development of nephropathy in patients with type 1 diabetes...
  60. ncbi request reprint A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene
    Y Pei
    Department of Medicine, Toronto Hospital, Ontario, Canada
    Kidney Int 53:1127-32. 1998
    ....
  61. ncbi request reprint The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23
    B Lo
    Section of Clinical Genetics and Dysmorphology, Hospital for Sick Children, Toronto, ON, Canada
    Clin Genet 65:137-42. 2004
    ....
  62. doi request reprint Family-based association study of IGF1 microsatellites and height, weight, and body mass index
    Gordon Fehringer
    Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada
    J Hum Genet 55:255-8. 2010
    ..This study does not support an association between IGF1 and these anthropometric measures. Study limitations, including sample size and capturing genetic variation at IGF1 with these markers, could mean associations were missed...
  63. pmc CRYBA4, a novel human cataract gene, is also involved in microphthalmia
    Gail Billingsley
    Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
    Am J Hum Genet 79:702-9. 2006
    ..Protein folding would consequently be impaired, most probably leading to a structure with reduced stability in the mutant. This is the first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia...
  64. ncbi request reprint A novel susceptibility locus on rat chromosome 8 affects spontaneous but not experimentally induced type 1 diabetes
    Robert H Wallis
    Department of Medicine, Sunnybrook and Women s College Health Sciences Centre Research Institute, University of Toronto, Toronto, Ontario, Canada
    Diabetes 56:1731-6. 2007
    ..Our objectives were to map a novel, serendipitously discovered Iddm locus, confirm its effects by developing congenic sublines, and assess its differential contribution to spontaneous and experimentally induced type 1 diabetes...
  65. pmc Molecular diagnostics in autosomal dominant polycystic kidney disease: utility and limitations
    Xiao Zhao
    Division of Nephrology, University Health Network, Toronto, Ontario, Canada
    Clin J Am Soc Nephrol 3:146-52. 2008
    ..This study illustrates its utility and limitations in the clinical setting...
  66. ncbi request reprint Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism
    John B Vincent
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
    Am J Med Genet B Neuropsychiatr Genet 125:54-6. 2004
    ..05)...
  67. pmc Type 1 diabetes in the BB rat: a polygenic disease
    Robert H Wallis
    Sunnybrook Health Sciences Centre Research Institute, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    Diabetes 58:1007-17. 2009
    ..The strong effects of these have impeded previous efforts to map additional loci. We tested the hypothesis that type 1 diabetes is a polygenic disease in the BBDP rat...
  68. pmc Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia
    A Bourdeau
    Cancer and Blood Program, The Hospital for Sick Children and Department of Immunology, University of Toronto, Ontario, Canada
    Am J Pathol 158:2011-20. 2001
    ..These data suggest that modifier genes involved in the regulation of TGF-beta1 expression act in combination with a single functional copy of endoglin in the development of HHT...
  69. ncbi request reprint The role of self-defined race/ethnicity in population structure control
    X Q Liu
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Ann Hum Genet 70:496-505. 2006
    ....
  70. doi request reprint Mammographic density: a heritable risk factor for breast cancer
    Norman F Boyd
    The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, Toronto, Canada
    Methods Mol Biol 472:343-60. 2009
    ....
  71. ncbi request reprint Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease
    Andrew D Paterson
    Division of Nephrology, University Health Network, 13 EN 228, 200 Elizabeth Street, Toronto, Ontario, Canada M5G 2C4
    J Am Soc Nephrol 16:755-62. 2005
    ..78; P = 0.00009) in these latter patients. None of the above covariates influenced the heritability of this trait. It is concluded that a significant modifier gene effect influences the progression of renal disease in type 1 ADPKD...
  72. pmc Family history of renal disease severity predicts the mutated gene in ADPKD
    Moumita Barua
    Division of Nephrology and Genomic Medicine, Department of Medicine, University of Toronto and University Health Network, Toronto, Ontario, Canada
    J Am Soc Nephrol 20:1833-8. 2009
    ..These data suggest that close attention to the family history of renal disease severity in ADPKD may provide a simple means of predicting the mutated gene, which has prognostic implications...
  73. pmc Unified criteria for ultrasonographic diagnosis of ADPKD
    York Pei
    Division of Nephrology, University of Toronto, 8N838, 585 University Avenue, Toronto, Ontario, Canada
    J Am Soc Nephrol 20:205-12. 2009
    ..These unified diagnostic criteria will be useful for testing individuals who are at risk for autosomal dominant polycystic kidney disease in the usual clinical setting in which molecular genotyping is seldom performed...
  74. pmc Functional impact of global rare copy number variation in autism spectrum disorders
    Dalila Pinto
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    Nature 466:368-72. 2010
    ..Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways...
  75. ncbi request reprint HLA class II haplotypes in Mexican systemic lupus erythematosus patients
    Lizette M Cortes
    Division of Immunology, HCMNO Instituto Mexicano del Seguro Social, Guadalajara, Mexico
    Hum Immunol 65:1469-76. 2004
    ..As expected, patients with SLE have a reduced haplotype genetic diversity. The associations found in this study are related to an ancestral haplotype that has been observed in SLE populations of different origins...
  76. ncbi request reprint Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene
    Antonio Orlacchio
    Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome, Italy
    Neurosci Lett 363:49-53. 2004
    ..Our investigation suggests that the two promoter SNPs are unrelated to the development of AD, however, further investigation at the promoter region of NCSTN may be necessary to address its potential implication of gene expression in AD...
  77. ncbi request reprint Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  78. ncbi request reprint Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes
    Huiqi Qu
    Nat Genet 37:111-2; author reply 112-3. 2005
  79. pmc Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population
    Tine Venken
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 76:237-48. 2005
    ..These results suggest a susceptibility locus on 9q31-q33 for affective disorder in this common ancestral region...
  80. ncbi request reprint Effects of covariates: a summary of Group 5 contributions
    Elizabeth R Hauser
    Section of Medical Genetics, Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Genet Epidemiol 25:S43-9. 2003
    ..Finally, the results of Group 5 studies show that inclusion of covariates can increase the power to detect genes for complex traits, and has the potential to advance an understanding of the role of genes in these complex traits...
  81. ncbi request reprint A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1
    Muhammad Arshad Rafiq
    Department of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    J Invest Dermatol 124:338-42. 2005
    ..92 cM interval flanked by markers D10S1710 and D10S1741 on chromosome 10q24.32-q25.1. Multipoint linkage analysis generated a maximum logarithm of odds ratio score of 4.79 in the interval D10S1239-D10S1264, which corresponds to 6.35 Mb...
  82. ncbi request reprint Assessment of linkage and association of 13 genetic loci with bone mineral density
    Helen H L Lau
    Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong, China
    J Bone Miner Metab 24:226-34. 2006
    ..The effect of each polymorphism on BMD variance ranged from 1% to 4%. In conclusion, ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females...
  83. ncbi request reprint High incidence of childhood type 1 diabetes in the Avalon Peninsula, Newfoundland, Canada
    Leigh A Newhook
    Memorial University of Newfoundland, Medicine, St John s, Newfoundland, Canada
    Diabetes Care 27:885-8. 2004
    ..The aim of this study was to determine the incidence of type 1 diabetes among children aged 0-14 years in the Avalon Peninsula in the Canadian Province of Newfoundland...
  84. pmc LDL composition in E2/2 subjects and LDL distribution by Apo E genotype in type 1 diabetes
    Susan J Murdoch
    Division of Metabolism, Endocrinology and Nutrition, Department of Medicine, University of Washington, Seattle, WA 98195, United States
    Atherosclerosis 192:138-47. 2007
    ..The apo E isoform also has a significant effect on LDL concentration in both homozygotes and heterozygotes...
  85. ncbi request reprint Characterization of E-cadherin endocytosis in isolated MCF-7 and chinese hamster ovary cells: the initial fate of unbound E-cadherin
    Andrew D Paterson
    School for Biomedical Science, The University of Queensland, St Lucia, Brisbane, Australia 4072
    J Biol Chem 278:21050-7. 2003
    ..Taken with earlier reports, this suggests the possibility that multiple pathways exist for E-cadherin entry into cells that are likely to reflect cell context and regulation...
  86. pmc The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
    Eija Siintola
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, P O Box 63 Haartmaninkatu 8, 00014 University of Helsinki, Helsinki, Finland
    Am J Hum Genet 81:136-46. 2007
    ..Analysis of the genome-scan data suggests the existence of at least three more genes in the remaining five families, further corroborating the great genetic heterogeneity of LINCLs...

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