Research Topics
Genomes and Genes
| Stuart MacgregorSummaryAffiliation: Queensland Institute of Medical Research Country: Australia Publications
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Detail Information
Publications
Use of phenotypic covariates in association analysis by sequential addition of casesStuart Macgregor
Biostatistics and Bioinformatics Unit, Department of Psychological Medicine, Cardiff University, Cardiff, UK
Eur J Hum Genet 14:529-34. 2006..We also illustrate the use of the method for taking account of a dimensional measure of psychosis in a study of the schizophrenia susceptibility gene, dysbindin, in bipolar disorder...
Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysisStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Hum Mol Genet 18:580-93. 2009..The absence of study-wide significant effects on AD results from the low P-value required when testing multiple single nucleotide polymorphisms and phenotypes...
Vitamin D receptor gene polymorphisms have negligible effect on human heightStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Australia
Twin Res Hum Genet 11:488-94. 2008..Our results did not support any role for two other regions (rs10735810, rs7139166) of VDR in explaining variation in height...- Most pooling variation in array-based DNA pooling is attributable to array error rather than pool construction errorStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
Eur J Hum Genet 15:501-4. 2007..This has important implications for optimal study design for array-based pooling. Given carefully constructed pools, resources should be allocated to increasing the number of arrays per sample rather than to constructing multiple pools... - Bias, precision and heritability of self-reported and clinically measured height in Australian twinsStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Herston Road, Brisbane, Australia
Hum Genet 120:571-80. 2006..Moderate reduction in error (through the use of accurate clinical or multiple self-report measures) increased the effective sample size by 22%; elimination of measurement error led to increases in effective sample size of 41%... - Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization ratesStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
Nucleic Acids Res 34:e55. 2006..With 20 arrays (10 for cases, 10 for controls), over half of the information could be extracted from this sample... - False disease region identification from identity-by-descent haplotype sharing in the presence of phenocopiesStuart Macgregor
Institute of Evolutionary Biology, University of Edinburgh, West Mains Road, Edinburgh, United Kingdom
Twin Res Hum Genet 9:9-16. 2006.... - GAIA: an easy-to-use web-based application for interaction analysis of case-control dataStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
BMC Med Genet 7:34. 2006..The importance of testing for interactions between loci in association analysis has been highlighted in a number of recent high profile publications... - Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3Stuart Macgregor
Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Nat Genet 43:1114-8. 2011..3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density... - Common variants in the trichohyalin gene are associated with straight hair in EuropeansSarah E Medland
Queensland Institute of Medical Research, Brisbane 4029, Australia
Am J Hum Genet 85:750-5. 2009..5x10(-31)). These variants are at their highest frequency in Northern Europeans, paralleling the distribution of the straight-hair EDAR variant in Asian populations... - Genome-wide association meta-analysis identifies new endometriosis risk lociDale R Nyholt
Queensland Institute of Medical Research, Brisbane, Queensland, Australia
Nat Genet 44:1355-9. 2012..8 × 10(-11)), indicating that many weakly associated SNPs represent true endometriosis risk loci and that risk prediction and future targeted disease therapy may be transferred across these populations... - Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UKElaine K Green
Department of Psychological Medicine, Henry Wellcome Building, Wales College of Medicine, Cardiff University, Heath Park, Cardiff CF4 4XN, Wales, UK
Br J Psychiatry 188:21-5. 2006..Three family-based studies have shown association of the common Valine (Val) allele of the Val66Met polymorphism of the BDNF gene with susceptibility to bipolar disorder... - Effects of GABRA2 variation on physiological, psychomotor and subjective responses in the alcohol challenge twin studyPenelope A Lind
Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
Twin Res Hum Genet 11:174-82. 2008..Because of the large number of phenotypes tested, these possibly significant findings will need to be confirmed in further studies... - P2RX7: A bipolar and unipolar disorder candidate susceptibility gene?Elaine K Green
Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Heath Park, UK
Am J Med Genet B Neuropsychiatr Genet 150:1063-9. 2009..Our data do not provide support for rs2230912 or the other polymorphisms studied within the P2RX7 locus, being involved in susceptibility to mood disorders... - The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population samplePenelope A Lind
Genetic Epidemiology, Queensland Institute of Medical Research, Royal BrisbaneHospital, Brisbane, Queensland, Australia
Alcohol Clin Exp Res 32:1721-31. 2008..The present study tested for association between GABRA2 and alcohol dependence, smoking, and illicit drug use within the Australian population... - A versatile gene-based test for genome-wide association studiesJimmy Z Liu
Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Queensland 4006, Australia
Am J Hum Genet 87:139-45. 2010..We have implemented the approach in both an easy-to-use web interface, which only requires the uploading of markers with their association p-values, and a separate downloadable application... - A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populationsPenelope A Lind
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
Twin Res Hum Genet 13:10-29. 2010..Further studies will be required before the detailed causes of comorbidity between AD and ND are understood... - Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arraysStuart Macgregor
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
Nucleic Acids Res 36:e35. 2008..The large cost savings with Illumina HumanHap300-based pooling imply that future studies need only be limited by the availability of samples and not cost... - No association between schizophrenia and polymorphisms in COMT in two large samplesHywel J Williams
Department of Psychological Medicine, Henry Wellcome Building for Biomedical Research, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
Am J Psychiatry 162:1736-8. 2005..The authors examined these hypotheses... - Genome-wide association identifies ATOH7 as a major gene determining human optic disc sizeStuart Macgregor
Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
Hum Mol Genet 19:2716-24. 2010..0136). Furthermore, the Arg65Gly variant was found to have very low frequency (0.00066) in an additional set of 672 controls... - Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconusYi Lu
Queensland Institute of Medical Research, Statistical Genetics, Herston, Brisbane, Queensland, Australia
Nat Genet 45:155-63. 2013..FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT... - Quantitative trait locus analysis of longitudinal quantitative trait data in complex pedigreesStuart Macgregor
Institute of Evolutionary Biology, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom
Genetics 171:1365-76. 2005..The CF-based techniques should allow efficient multivariate analyses of many data sets in human and natural population genetics... - Covariate linkage analysis of GAW14 simulated data incorporating subclinical phenotype, sex, population, parent-of-origin, and interactionMarian L Hamshere
Biostatistics and Bioinformatics Unit, Cardiff University, Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
BMC Genet 6:S45. 2005..Focusing on a randomly chosen replicate (42) we investigated the effect of the 12 subclinical phenotypes, sex, population, and parent-of-origin on the linkage signal from a model-free linkage analysis of Kofendrerd Personality Disorder... - Genome-wide association study for ovarian cancer susceptibility using pooled DNAYi Lu
Queensland Institute of Medical Research, Brisbane, Australia
Twin Res Hum Genet 15:615-23. 2012..However, our study lacked power to make clear statements on the existence of hitherto untagged small-effect variants... - GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern developmentMats Larsson
Queensland Institute of Medical Research, Brisbane, Australia
Am J Hum Genet 89:334-43. 2011..These findings suggest that genes involved in normal neuronal pattern development may also influence tissue structures in the human iris... - Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophreniaLyudmila Georgieva
Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
Proc Natl Acad Sci U S A 103:12469-74. 2006..Our data provide strong convergent evidence that variation in OLIG2 confers susceptibility to schizophrenia alone and as part of a network of genes implicated in oligodendrocyte function... - Association between in vivo alcohol metabolism and genetic variation in pathways that metabolize the carbon skeleton of ethanol and NADH reoxidation in the alcohol challenge twin studyPenelope A Lind
Molecular Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
Alcohol Clin Exp Res 36:2074-85. 2012.... - Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot"Sharon E Johnatty
Queensland Institute of Medical Research, Brisbane, Australia
PLoS Genet 6:e1001016. 2010..ORper-allele 1.14 (1.04-1.24) p=0.003]. Our study adds to the growing evidence that, like the 8q24 locus, the telomerase reverse transcriptase locus at 5p15.33, is a general cancer susceptibility locus... - Genome-wide association study identifies a locus at 7p15.2 associated with endometriosisJodie N Painter
Molecular Epidemiology, Queensland Institute of Medical Research, Herston, Queensland, Australia
Nat Genet 43:51-4. 2011..4 × 10⁻⁹ (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10... - Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk IslandStuart Macgregor
Queensland Institute of Medical Research, Brisbane, QLD, Australia
Eur J Hum Genet 18:67-72. 2010..In conclusion, both founder effect and extreme admixture have substantially influenced the genetic architecture of a variety of CVD-related traits in this population... - Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancersJonathan Beesley
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
PLoS ONE 6:e24987. 2011..We demonstrate that the minor alleles at rs2736109, and at an additional TERT promoter SNP, rs2736108, are associated with decreased breast cancer risk, and that the combination of both SNPs substantially reduces TERT promoter activity... - A simple and fast two-locus quality control test to detect false positives due to batch effects in genome-wide association studiesSang Hong Lee
Queensland Institute of Medical Research, Herston, Queensland, Australia
Genet Epidemiol 34:854-62. 2010..This novel QC approach is easy to implement and computationally efficient, and can lead to a better quality of genotypes for subsequent genotype-phenotype investigations... - A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's diseaseDenise Harold
Department of Psychological Medicine, Cardiff University, Cardiff, UK
Pharmacogenet Genomics 16:75-7. 2006..Treatment with acetylcholinesterase (AChE) inhibitors aims to reverse this deficit and does ameliorate the decline in cognition in some AD patients, although response is variable... - Longitudinal variance-components analysis of the Framingham Heart Study dataStuart Macgregor
Biostatistics and Bioinformatics Unit, University of Wales College of Medicine, Heath Hospital, Cardiff, United Kingdom
BMC Genet 4:S22. 2003..The traits of interest were BMI, HDLC, total cholesterol, and height. The longitudinal method allowed the characterization of the change in QTL effects with aging. A QTL affecting BMI was shown to act mainly at early ages... - Familiality of postpartum depression in unipolar disorder: results of a family studyLiz Forty
Henry Wellcome Building for Biomedical Research, Wales School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
Am J Psychiatry 163:1549-53. 2006..They suggest that a postnatal onset definition of within 6-8 weeks of delivery may be optimal in studies of the triggering of depressive illness by childbirth... - Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1)Rachel Raybould
Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Cardiff, Wales, UK
Biol Psychiatry 57:696-701. 2005..We previously reported that variation at a specific 3-locus haplotype influences susceptibility to schizophrenia in a large United Kingdom (UK) Caucasian case-control sample... - Genome partitioning of genetic variation for height from 11,214 sibling pairsPeter M Visscher
Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
Am J Hum Genet 81:1104-10. 2007.... - Genetic variants near PDGFRA are associated with corneal curvature in AustraliansAniket Mishra
Queensland Institute of Medical Research, Brisbane, Australia
Invest Ophthalmol Vis Sci 53:7131-6. 2012..Results of initial genomewide association studies (GWAS) for CC in Australians were also reported... - Melanoma genetics: recent findings take us beyond well-traveled pathwaysMatthew H Law
Queensland Institute of Medical Research, Brisbane, Queensland, Australia
J Invest Dermatol 132:1763-74. 2012..We take this opportunity to summarize these new and exciting findings and integrate them into the current framework of our understanding of melanoma genetics... - Is schizophrenia linked to chromosome 1q?Stuart Macgregor
Institute of Cell, Animal and Population Biology, Ashworth Laboratory, University of Edinburgh, West Mains Road, Edinburgh, EH9 3JT, UK
Science 298:2277; author reply 2277. 2002 - A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibilityHannah C Cox
Genomics Research Centre, Griffith Health Institute, Griffith University, Queensland 4222, Australia
Neurogenetics 13:261-6. 2012..Association of SNPs within these neurotransmitter-related genes suggests a disrupted serotoninergic system that is perhaps specific to the Norfolk Island pedigree, but that might provide clues to understanding migraine more generally... - Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thicknessYi Lu
Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Australia
PLoS Genet 6:e1000947. 2010..Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population... - Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorderNigel M Williams
Department of Psychological Medicine and Biostatistics and Bioinformatics Unit, Wales School of Medicine, Cardiff University
Arch Gen Psychiatry 63:366-73. 2006..Variation at the DAOA/G30 locus has been described to be associated with both schizophrenia and bipolar disorder, but there is little consistency between studies of the tested polymorphisms or variants showing association... - Rare chromosomal deletions and duplications increase risk of schizophreniaJennifer L Stone
Nature 455:237-41. 2008..Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci... - Longitudinal data analysis in pedigree studiesW James Gauderman
Department of Preventive Medicine, University of Southern California, Los Angeles, 90089, USA
Genet Epidemiol 25:S18-28. 2003..Several areas for future research are discussed... - Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorderElaine K Green
Department of Psychological Medicine and Biostatics and Bioinformatics Unit, University of Wales College of Medicine, Cardiff
Arch Gen Psychiatry 62:642-8. 2005..The most consistent finding has been that one particular haplotype (the "core" haplotype) is overrepresented in cases compared with control subjects... - Common sequence variants on 20q11.22 confer melanoma susceptibilityKevin M Brown
Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA
Nat Genet 40:838-40. 2008..The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases... - Linkage analysis in a large family from Pakistan with depression and a high incidence of consanguineous marriagesMuhammad Ayub
St Luke s Hospital, Middlesborough, UK
Hum Hered 66:190-8. 2008..The effect of inbreeding on linkage analysis in an extended pedigree is discussed... - Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorderRicardo Segurado
Neuropsychiatric Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
Am J Hum Genet 73:49-62. 2003..We note that meta-analysis can sometimes provide support for linkage but cannot disprove linkage in any candidate region... - Optimal two-stage testing for family-based genome-wide association studiesStuart Macgregor
Am J Hum Genet 82:797-9; author reply 799-800. 2008 - Edrecolomab alone or in combination with fluorouracil and folinic acid in the adjuvant treatment of stage III colon cancer: a randomised studyCornelis J A Punt
Department of Medical Oncology, University Medical Center St Radboud, PO Box 9101, 6500 HB Nijmegen, Netherlands
Lancet 360:671-7. 2002..We did a randomised trial in 27 countries to determine the effect of adding edrecolomab to the combination of fluorouracil and folinic acid in these patients...