Grant W Montgomery

Summary

Affiliation: Queensland Institute of Medical Research
Country: Australia

Publications

  1. ncbi request reprint Dizygotic twinning is not linked to variation at the alpha-inhibin locus on human chromosome 2
    G W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research and Joint Genetics Program, University of Queensland, Brisbane, Australia
    J Clin Endocrinol Metab 85:3391-5. 2000
  2. ncbi request reprint Genes controlling ovulation rate in sheep
    G W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research and Joint Genetics Program, The University of Queensland, Brisbane, Queensland, Australia
    Reproduction 121:843-52. 2001
  3. ncbi request reprint Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes
    Grant W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    Hum Reprod 18:2460-4. 2003
  4. ncbi request reprint A deletion mutation in GDF9 in sisters with spontaneous DZ twins
    Grant W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res 7:548-55. 2004
  5. pmc A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults
    Louise M Randall
    Queensland Institute of Medical Research and Australian Centre for Vaccine Development, 300 Herston Road, Herston, QLD 4006, Australia
    Malar J 9:302. 2010
  6. pmc Common variants in the trichohyalin gene are associated with straight hair in Europeans
    Sarah E Medland
    Queensland Institute of Medical Research, Brisbane 4029, Australia
    Am J Hum Genet 85:750-5. 2009
  7. pmc Sequence variants in three loci influence monocyte counts and erythrocyte volume
    Manuel A R Ferreira
    Queensland Institute of Medical Research QIMR, Brisbane, QLD 4029, Australia
    Am J Hum Genet 85:745-9. 2009
  8. pmc A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    David L Duffy
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 80:241-52. 2007
  9. pmc A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
  10. pmc Genome-wide linkage analysis of multiple measures of neuroticism of 2 large cohorts from Australia and the Netherlands
    Naomi R Wray
    Department of Genetic Epidemiology, Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Australia 4029
    Arch Gen Psychiatry 65:649-58. 2008

Collaborators

Detail Information

Publications76

  1. ncbi request reprint Dizygotic twinning is not linked to variation at the alpha-inhibin locus on human chromosome 2
    G W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research and Joint Genetics Program, University of Queensland, Brisbane, Australia
    J Clin Endocrinol Metab 85:3391-5. 2000
    ..The results also suggest that mutations in other candidates on chromosome 2, including the receptor for FSH and the betaB-inhibin subunit (INHBB) cannot be major contributors to risk for DZ twinning...
  2. ncbi request reprint Genes controlling ovulation rate in sheep
    G W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research and Joint Genetics Program, The University of Queensland, Brisbane, Queensland, Australia
    Reproduction 121:843-52. 2001
    ..There is still much to learn about follicular development and the control of litter size from genetic models in sheep...
  3. ncbi request reprint Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes
    Grant W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    Hum Reprod 18:2460-4. 2003
    ..Polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR) have been associated with dizygotic (DZ) twinning through pregnancy loss...
  4. ncbi request reprint A deletion mutation in GDF9 in sisters with spontaneous DZ twins
    Grant W Montgomery
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res 7:548-55. 2004
    ..We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9...
  5. pmc A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults
    Louise M Randall
    Queensland Institute of Medical Research and Australian Centre for Vaccine Development, 300 Herston Road, Herston, QLD 4006, Australia
    Malar J 9:302. 2010
    ..Previous studies indicate that tumour necrosis factor (TNF) and lymphotoxin alpha (LTα) may be important for the development of cerebral malaria (CM) and other SM syndromes...
  6. pmc Common variants in the trichohyalin gene are associated with straight hair in Europeans
    Sarah 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...
  7. pmc Sequence variants in three loci influence monocyte counts and erythrocyte volume
    Manuel A R Ferreira
    Queensland Institute of Medical Research QIMR, Brisbane, QLD 4029, Australia
    Am J Hum Genet 85:745-9. 2009
    ..001, 9.9x10(-5), and 7x10(-5), respectively). The identification of these QTL provides new opportunities for furthering our understanding of the mechanisms regulating hemopoietic cell fate...
  8. pmc A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
    David L Duffy
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 80:241-52. 2007
    ....
  9. pmc A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Am J Hum Genet 82:424-31. 2008
    ....
  10. pmc Genome-wide linkage analysis of multiple measures of neuroticism of 2 large cohorts from Australia and the Netherlands
    Naomi R Wray
    Department of Genetic Epidemiology, Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Australia 4029
    Arch Gen Psychiatry 65:649-58. 2008
    ..Studying this personality dimension can give insights into the etiology of these important psychiatric disorders...
  11. ncbi request reprint KRAS variation and risk of endometriosis
    Zhen Zhen Zhao
    Molecular Epidemiology Laboratory and Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Mol Hum Reprod 12:671-6. 2006
    ..No germline variants for KRAS or BRAF were detected. Our results demonstrate that any risk of endometriosis in women because of common variation in KRAS must be very small...
  12. pmc Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma
    David L Duffy
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    J Invest Dermatol 130:520-8. 2010
    ..We also detected significant epistatic interactions between SLC45A2 and OCA2 alleles, and MC1R and ASIP alleles. Overall, these measured variants account for 12% of the familial risk of CMM in our population...
  13. pmc Common SNPs explain a large proportion of the heritability for human height
    Jian Yang
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 42:565-9. 2010
    ....
  14. pmc Genome-wide association meta-analysis identifies new endometriosis risk loci
    Dale 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...
  15. pmc Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits
    Rita P S Middelberg
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
    BMC Med Genet 12:123. 2011
    ....
  16. pmc Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning
    Zhen Zhen Zhao
    Molecular Epidemiology, Queensland Institute of Medical Research, Royal Brisbane Hospital, Brisbane, QLD, Australia
    Hum Reprod 23:2372-9. 2008
    ..Spontaneous dizygotic (DZ) twinning in humans is under genetic control. In sheep, heterozygous loss of function mutations in bone morphogenetic protein 15 (BMP15) increase ovulation and hence twinning rates...
  17. doi request reprint Effects of GABRA2 variation on physiological, psychomotor and subjective responses in the alcohol challenge twin study
    Penelope 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...
  18. pmc Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis
    Stuart 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...
  19. doi request reprint Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs
    Beben Benyamin
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
    Eur J Hum Genet 16:516-24. 2008
    ..We suggest that the effect of within-family outliers deserves further investigation via theoretical and simulation studies...
  20. doi request reprint Association study of common mitochondrial variants and cognitive ability
    Enda M Byrne
    Queensland Statistical Genetics, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, QLD, 4029, Australia
    Behav Genet 39:504-12. 2009
    ..These genes warrant further investigation in both functional and association studies with larger cohorts...
  21. pmc Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 41:1173-5. 2009
    ..1 x 10(-10)). We also find suggestive evidence of association with blood hemoglobin levels (combined P = 5.3 x 10(-7)). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis...
  22. doi request reprint Vitamin D receptor gene polymorphisms have negligible effect on human height
    Stuart 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...
  23. pmc GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane 4006, Australia
    Hum Mol Genet 20:4504-14. 2011
    ..We conclude that variation in BCHE activity is due to multiple variants across the spectrum from uncommon/large effect to common/small effect, and partly results from (rather than causes) metabolic abnormalities...
  24. pmc Do 5HTTLPR and stress interact in risk for depression and suicidality? Item response analyses of a large sample
    William L Coventry
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Am J Med Genet B Neuropsychiatr Genet 153:757-65. 2010
    ..01) and are not significantly associated with any of the genotype main effects (5HTTLPR, 5HTTLPR + rs25531) or interactions (stress x genotype). We find no evidence to support the hypothesis of any 5HTTLPR genotype by stress interaction...
  25. pmc The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample
    Penelope 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...
  26. doi request reprint Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis
    Zhen Zhen Zhao
    Molecular Epidemiology, Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia
    Mol Hum Reprod 14:531-8. 2008
    ..Our detailed review and meta-analysis of the VEGF polymorphisms suggests that genotyping assay problems may underlie the previously reported associations between VEGF variants and endometriosis...
  27. pmc A genome-wide linkage scan for age at menarche in three populations of European descent
    Carl A Anderson
    Queensland Institute of Medical Research, Royal Brisbane Hospital, Queensland 4029, Australia
    J Clin Endocrinol Metab 93:3965-70. 2008
    ..Age at menarche (AAM) is an important trait both biologically and socially, a clearly defined event in female pubertal development, and has been associated with many clinically significant phenotypes...
  28. pmc High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19
    Jodie N Painter
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Fertil Steril 95:2236-40. 2011
    ..To refine a previously reported linkage peak for endometriosis on chromosome 10q26, and conduct follow-up analyses and a fine-mapping association study across the region to identify new candidate genes for endometriosis...
  29. doi request reprint Association study of candidate variants of COMT with neuroticism, anxiety and depression
    Naomi R Wray
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Med Genet B Neuropsychiatr Genet 147:1314-8. 2008
    ..Haplotype T-G-G showed weak association (P = 0.042) with PDAG before correction for multiple testing; association between this haplotype and schizophrenia has been previously reported in an Australian sample...
  30. ncbi request reprint Anxiety and comorbid measures associated with PLXNA2
    Naomi R Wray
    Queensland Institute of Medical Research, Royal Brisbane Hospital, Brisbane, QLD 4029, Australia
    Arch Gen Psychiatry 64:318-26. 2007
    ..Common genetic liabilities have been reported between psychiatric and psychological measures, but few examples exist of common genetic variants...
  31. ncbi request reprint QTLs identified for P3 amplitude in a non-clinical sample: importance of neurodevelopmental and neurotransmitter genes
    Margaret J Wright
    Queensland Institute of Medical Research, School of Psychology, University of Queensland, Brisbane, Australia
    Biol Psychiatry 63:864-73. 2008
    ..The P3(00) event-related potential is an index of processing capacity (P3 amplitude) and stimulus evaluation (P3 latency) as well as a phenotypic marker of various forms of psychopathology where P3 abnormalities have been reported...
  32. doi request reprint Spectrophotometric methods for quantifying pigmentation in human hair-influence of MC1R genotype and environment
    Sri N Shekar
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Photochem Photobiol 84:719-26. 2008
    ..Our results show that spectrophotometric measures approximating variation in eumelanin and pheomelanin may be considered as an alternative to chemical methods in larger epidemiological studies...
  33. doi request reprint KCNN4 gene variant is associated with ileal Crohn's Disease in the Australian and New Zealand population
    Lisa A Simms
    Royal Brisbane and Women s Research Foundation, Brisbane, Queensland, Australia
    Am J Gastroenterol 105:2209-17. 2010
    ..Our aim was to determine whether a gene in the IBD linkage region on chromosome 19q13, with a role in Paneth cell secretion and T-cell activation, conferred genetic susceptibility to the development of CD...
  34. pmc A versatile gene-based test for genome-wide association studies
    Jimmy 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...
  35. pmc Genome-wide association study of height and body mass index in Australian twin families
    Jimmy Z Liu
    Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia
    Twin Res Hum Genet 13:179-93. 2010
    ..Together, these variants explain less than 2% of total phenotypic variation for height and 0.5% for BMI...
  36. ncbi request reprint Novel variants in growth differentiation factor 9 in mothers of dizygotic twins
    James S Palmer
    Molecular Epidemiology, Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia
    J Clin Endocrinol Metab 91:4713-6. 2006
    ..We previously identified a deletion mutation in GDF9 in sisters with spontaneous dizygotic (DZ) twins, but the prevalence of rare GDF9 variants in twinning families is unknown...
  37. pmc Inference of the genetic architecture underlying BMI and height with the use of 20,240 sibling pairs
    Gibran Hemani
    The University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute, Brisbane, QLD 4102, Australia The University of Queensland, Queensland Brain Institute, Brisbane, QLD 4027, Australia
    Am J Hum Genet 93:865-75. 2013
    ....
  38. pmc No association of candidate genes with cannabis use in a large sample of Australian twin families
    Karin J H Verweij
    Queensland Statistical Genetics Laboratories, Queensland Institute of Medical Research, Brisbane, Australia
    Addict Biol 17:687-90. 2012
    ..05). The lack of replication may point to our limited understanding of the neurobiology of cannabis involvement and also to potential publication bias and false-positive findings in previous studies...
  39. pmc Dyslexia and DCDC2: normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample
    Penelope A Lind
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    Eur J Hum Genet 18:668-73. 2010
    ..This study provides support for DCDC2 as a risk gene for reading disorder, and suggests that this risk factor acts on normally varying reading skill in the general population...
  40. pmc A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations
    Penelope 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...
  41. doi request reprint Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2
    Sri N Shekar
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Invest Dermatol 128:2807-14. 2008
    ..03 after correction for multiple testing, respectively). These two SNPs explain 1.54 and 0.85% of variation in the A650t index, respectively...
  42. pmc Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma
    Zhen Zhen Zhao
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Melanoma Res 19:80-6. 2009
    ..We conclude that common variants in the STX17 gene region do not play a key role in the pathogenesis of human melanoma...
  43. pmc ADH single nucleotide polymorphism associations with alcohol metabolism in vivo
    Andrew J Birley
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029, Australia
    Hum Mol Genet 18:1533-42. 2009
    ....
  44. ncbi request reprint A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability
    Michelle Luciano
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
    Biol Psychiatry 62:811-7. 2007
    ..We aimed to find further support for this gene by examining its association with reading and spelling ability in adolescent twins and their siblings unselected for dyslexia...
  45. pmc Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane 4029, Australia
    Am J Hum Genet 84:60-5. 2009
    ....
  46. pmc Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings
    Peter M Visscher
    Genetic Epidemiology Group, Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 2:e41. 2006
    ....
  47. pmc No evidence for genetic association with the let-7 microRNA-binding site or other common KRAS variants in risk of endometriosis
    Hien T T Luong
    Genetics and Computational Biology Division, Queensland Institute of Medical Research, Royal Brisbane Hospital, Locked Bag 2000, Brisbane, QLD 4029 Australia
    Hum Reprod 27:3616-21. 2012
    ..Is there a contribution of the minor allele at the KRAS single nucleotide polymorphism (SNP) rs61764370 in the let-7 microRNA-binding site to endometriosis risk?..
  48. doi request reprint NRAS and BRAF mutations in cutaneous melanoma and the association with MC1R genotype: findings from Spanish and Austrian populations
    Elke Hacker
    Genetics and Computational Biology Department, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Invest Dermatol 133:1027-33. 2013
    ..8 (0.8-4.1), P=0.1), whereas we observed a significant inverse association between MC1R and BRAF for melanomas of the head and neck (OR 0.3 (0.1-0.8), P=0.02). This trend was observed in both the Spanish and Austrian populations...
  49. pmc Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
    Jian Yang
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Nat Genet 44:369-75, S1-3. 2012
    ..The method we present is computationally fast and is also applicable to case-control data, which we demonstrate in an example from meta-analysis of type 2 diabetes by the DIAGRAM Consortium...
  50. pmc Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia
    Manuel A R Ferreira
    Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Eur J Hum Genet 19:458-64. 2011
    ..In conclusion, we confirm the association between asthma risk and variants in ORMDL3 and identify a novel risk variant in IL1RL1. Follow-up of the 17q21 deletion in larger cohorts is warranted...
  51. pmc Educational attainment: a genome wide association study in 9538 Australians
    Nicolas W Martin
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    PLoS ONE 6:e20128. 2011
    ..8. This makes EA an attractive alternative phenotype for studies wishing to map genes affecting cognition due to the ease of collecting EA data compared to other cognitive phenotypes such as IQ...
  52. pmc Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1
    Sarah E Medland
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Australia
    PLoS Genet 3:1736-44. 2007
    ....
  53. pmc Accurate, Large-Scale Genotyping of 5HTTLPR and Flanking Single Nucleotide Polymorphisms in an Association Study of Depression, Anxiety, and Personality Measures
    Naomi R Wray
    Genetic and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, 300 Herston Road, Brisbane 4006, Australia
    Biol Psychiatry 66:468-76. 2009
    ..However, the original 5HTTLPR assay is prone to bias toward short allele calling...
  54. ncbi request reprint Rapid screening of 4000 individuals for germ-line variations in the BRAF gene
    Michael R James
    Queensland Institute of Medical Research, Brisbane, Australia
    Clin Chem 52:1675-8. 2006
    ..A majority of variations are at the valine 600 residue leading to a V600E substitution that constitutively activates the kinase. We screened 4000 patient and control DNAs for germ-line variations at the valine 600 residue...
  55. pmc A variant in LIN28B is associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure
    Sarah E Medland
    Genetic Epidemiology, Queensland Institute of Medical Research, Australia
    Am J Hum Genet 86:519-25. 2010
    ..Our findings call into question the validity of 2D:4D as a simplistic retrospective biomarker for prenatal testosterone exposure...
  56. doi request reprint Association study of candidate variants from brain-derived neurotrophic factor and dystrobrevin-binding protein 1 with neuroticism, anxiety, and depression
    Naomi R Wray
    Queensland Institute of Medical Research, Brisbane, Australia
    Psychiatr Genet 18:219-25. 2008
    ..Here, association between variants of BDNF and DTNBP1, and multiple anxiety and depression phenotypes is explored...
  57. pmc Linkage analysis of alcohol dependence symptoms in the community
    Narelle K Hansell
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
    Alcohol Clin Exp Res 34:158-63. 2010
    ..We have previously identified suggestive linkage for alcohol consumption in a community-based sample of Australian adults. In this companion paper, we explore the strength of genetic linkage signals for alcohol dependence symptoms...
  58. pmc Detection and replication of epistasis influencing transcription in humans
    Gibran Hemani
    1 Queensland Brain Institute, University of Queensland, Brisbane, Queensland 4072, Australia 2 University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland 4072, Australia
    Nature 508:249-53. 2014
    ..This study presents the first evidence, to our knowledge, for many instances of segregating common polymorphisms interacting to influence human traits. ..
  59. pmc Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control
    Manuel A R Ferreira
    Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Am J Hum Genet 86:88-92. 2010
    ....
  60. pmc Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data
    Joseph E Powell
    University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia
    PLoS Genet 9:e1003502. 2013
    ..Consistent with the genetic architecture of common diseases, gene expression is predominantly additive, but a minority of transcripts display non-additive effects...
  61. pmc The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics
    Joseph E Powell
    University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia
    PLoS ONE 7:e35430. 2012
    ..These associations corresponded to a total of 2,081 expression quantitative trait loci (eQTL) involving 1,503 probes. The majority of identified eQTL (87%) were located within cis-regions...
  62. pmc Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent
    Joseph E Powell
    Queensland Institute of Medical Research, Herston, Brisbane, QLD 4006, Australia
    Genome Res 22:456-66. 2012
    ....
  63. pmc Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations
    Rita P Middelberg
    Queensland Institute of Medical Research, Brisbane, Australia
    Hum Mol Genet 21:446-55. 2012
    ..Our results reinforce the disease associations of GGT and demonstrate that control by the GGT1 locus varies with age...
  64. pmc HLA and genomewide allele sharing in dizygotic twins
    Grant W Montgomery
    Molecular and Genetic Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia
    Am J Hum Genet 79:1052-8. 2006
    ..Our results imply that gene-mapping studies based on affected sibling pairs that include DZ pairs will not suffer from false-positive results due to loci involved in embryo survival...
  65. pmc Can we identify genes for alcohol consumption in samples ascertained for heterogeneous purposes?
    Narelle K Hansell
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Alcohol Clin Exp Res 33:729-39. 2009
    ..e., selected on other traits and forms of psychopathology), which nevertheless assess consumption as a risk factor. Is it reasonable to expect that genes contributing to variation in alcohol consumption can be identified in such samples?..
  66. doi request reprint Linkage and association analyses of longitudinally measured lipid phenotypes in adolescence
    Rita P Middelberg
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Australia
    Twin Res Hum Genet 11:603-20. 2008
    ..42 x 10(-5) and 2.77 x 10(-4), respectively). Further longitudinal genetic studies of cardiovascular risk factors, focused on critical periods of development or change, are needed...
  67. pmc The search for genes contributing to endometriosis risk
    Grant W Montgomery
    Genetic and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Royal Brisbane Hospital, 300 Herston Road, Brisbane, QLD 4029, Australia
    Hum Reprod Update 14:447-57. 2008
    ..Genetic variation contributes to the risk of developing endometriosis. This review summarizes gene mapping studies in endometriosis and the prospects of finding gene pathways contributing to disease using the latest genome-wide strategies...
  68. pmc Genome-wide association identifies ATOH7 as a major gene determining human optic disc size
    Stuart 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...
  69. doi request reprint Association of Helicobacter pylori infection with reduced risk for esophageal cancer is independent of environmental and genetic modifiers
    David C Whiteman
    Queensland Institute of Medical Research, Brisbane, Australia
    Gastroenterology 139:73-83; quiz e11-2. 2010
    ..We sought to measure the association between H pylori infection and esophageal cancer and identify potential modifiers...
  70. doi request reprint Single nucleotide polymorphisms in obesity-related genes and the risk of esophageal cancers
    James D Doecke
    Division of Population Studies and Human Genetics, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland, Australia
    Cancer Epidemiol Biomarkers Prev 17:1007-12. 2008
    ..0 kg/m(2), 25.0-29.9 kg/m(2), >30 kg/m(2)). In conclusion, our data suggest that these SNPs do not play a major role in esophageal carcinogenesis...
  71. pmc A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality
    Karin J H Verweij
    Genetic Epidemiology, Molecular Epidemiology, and Queensland Statistical Genetics Laboratories, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Biol Psychol 85:306-17. 2010
    ....
  72. pmc IRF4 variants have age-specific effects on nevus count and predispose to melanoma
    David L Duffy
    Queensland Institute of Medical Research, Brisbane 4029, Australia
    Am J Hum Genet 87:6-16. 2010
    ..14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08)...
  73. ncbi request reprint A possible smoking susceptibility locus on chromosome 11p12: evidence from sex-limitation linkage analyses in a sample of Australian twin families
    Katherine I Morley
    Genetic Epidemiology, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland, Australia
    Behav Genet 36:87-99. 2006
    ..We identified one region suggestive of linkage on chromosome 11p12. This locus, as well as another region identified on chromosome 6p12, replicates regions identified in previous studies...
  74. ncbi request reprint BRAF polymorphisms and risk of melanocytic neoplasia
    Michael R James
    Queensland Institute of Medical Research, Brisbane, Australia
    J Invest Dermatol 125:1252-8. 2005
    ..The burden of disease associated with this variant is greater than that associated with the major melanoma susceptibility locus CDKN2A, which has an estimated attributable risk of 0.2%...
  75. ncbi request reprint Variants in EMX2 and PTEN do not contribute to risk of endometriosis
    Susan A Treloar
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029, Australia, and Nuffield Department of Obstetrics and Gynaecology, University of Oxford, UK
    Mol Hum Reprod 13:587-94. 2007
    ..It is unlikely that the EMX2 or PTEN gene variants investigated contribute to risk for initiation and/or development of endometriosis...
  76. ncbi request reprint Epidermal growth factor gene (EGF) polymorphism and risk of melanocytic neoplasia
    Michael R James
    Queensland Institute of Medical Research, Brisbane, Australia
    J Invest Dermatol 123:760-2. 2004
    ..05), in keeping with two previous studies. The EGF polymorphism does not appear to predispose to melanoma or nevus development, but its significant association with tumor thickness implies that it may be a useful marker of prognosis...