David L Duffy

Summary

Affiliation: Queensland Institute of Medical Research
Country: Australia

Publications

  1. 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
  2. pmc Real-time PCR quantification of the canine filaggrin orthologue in the skin of atopic and non-atopic dogs: a pilot study
    Joana Barros Roque
    Centre for Companion Animal Health, School of Veterinary Science, The University of Queensland, St Lucia, Queensland 4069, Australia
    BMC Res Notes 4:554. 2011
  3. ncbi request reprint Genetic determinants of diabetes are similarly associated with other immune-mediated diseases
    David L Duffy
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Herston, Queensland, Australia
    Curr Opin Allergy Clin Immunol 7:468-74. 2007
  4. 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
  5. ncbi request reprint An integrated genetic map for linkage analysis
    David L Duffy
    Queensland Institute of Medical Research, Brisbane Herston, Australia
    Behav Genet 36:4-6. 2006
  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. 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
  8. doi request reprint Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
    Anthony L Cook
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
    J Invest Dermatol 129:392-405. 2009
  9. 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
  10. ncbi request reprint Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies
    Sharon E Johnatty
    Cancer and Cell Biology, Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD, 4029, Australia
    Breast Cancer Res Treat 109:91-9. 2008

Collaborators

Detail Information

Publications80

  1. 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
    ....
  2. pmc Real-time PCR quantification of the canine filaggrin orthologue in the skin of atopic and non-atopic dogs: a pilot study
    Joana Barros Roque
    Centre for Companion Animal Health, School of Veterinary Science, The University of Queensland, St Lucia, Queensland 4069, Australia
    BMC Res Notes 4:554. 2011
    ..abstract:..
  3. ncbi request reprint Genetic determinants of diabetes are similarly associated with other immune-mediated diseases
    David L Duffy
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Herston, Queensland, Australia
    Curr Opin Allergy Clin Immunol 7:468-74. 2007
    ..I will review this material more in a genetical than an immunological way...
  4. 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...
  5. ncbi request reprint An integrated genetic map for linkage analysis
    David L Duffy
    Queensland Institute of Medical Research, Brisbane Herston, Australia
    Behav Genet 36:4-6. 2006
    ..and coworkers (2004) Am. J. Hum. Genet. 75:1143-1148. For the pseudoautosomal region, I have interpolated a male map based on the sperm typing data of Lien, S., and coworkers (2000) Am. J. Hum. Genet. 66:557-566...
  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. 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...
  8. doi request reprint Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci
    Anthony L Cook
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
    J Invest Dermatol 129:392-405. 2009
    ....
  9. 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...
  10. ncbi request reprint Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies
    Sharon E Johnatty
    Cancer and Cell Biology, Queensland Institute of Medical Research, c o Royal Brisbane Hospital Post Office, Herston, Brisbane, QLD, 4029, Australia
    Breast Cancer Res Treat 109:91-9. 2008
    ....
  11. 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...
  12. 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...
  13. pmc A population-based study of Australian twins with melanoma suggests a strong genetic contribution to liability
    Sri N Shekar
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Invest Dermatol 129:2211-9. 2009
    ..Using these data and population prevalences, it was estimated that 55% of the variation in liability to melanoma is due to genetic influences...
  14. 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%...
  15. 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...
  16. 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...
  17. 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...
  18. doi request reprint Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1
    Felicity Lose
    Cancer and Cell Biology Division, Queensland Institute of Medical Research, Herston, Brisbane, Queensland, Australia
    J Natl Cancer Inst 100:1519-29. 2008
    ....
  19. ncbi request reprint A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions
    Gu Zhu
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Eur J Hum Genet 15:94-102. 2007
    ..001). We replicate our earlier finding of linkage to CDKN2A and discovering linkage to several novel regions that may also influence risk of the development of malignant melanoma...
  20. ncbi request reprint Interactive effects of MC1R and OCA2 on melanoma risk phenotypes
    David L Duffy
    Queensland Insititute of Medical Research, Brisbane, Australia
    Hum Mol Genet 13:447-61. 2004
    ..Amongst individuals with a R/R genotype (but not R/r), those who also had brown eyes had a mole count twice that of those with blue eyes. This suggests that other OCA2 polymorphisms influence mole count and remain to be described...
  21. 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...
  22. pmc 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...
  23. ncbi request reprint A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits
    Manuel A R Ferreira
    Queensland Institute of Medical Research, Royal Brisbane Hospital, Brisbane, Australia
    Eur J Hum Genet 14:953-62. 2006
    ..We illustrate the utility of our approach with a genome scan of three asthma traits measured in families with a twin proband...
  24. 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...
  25. 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...
  26. pmc Genetic influences on handedness: data from 25,732 Australian and Dutch twin families
    Sarah E Medland
    Queensland Institute of Medical Research, Australia
    Neuropsychologia 47:330-7. 2009
    ..17, 27.09%) with the remainder accounted for by non-shared environmental influences. The implications of these findings for handedness both as a primary phenotype and as a covariate in linkage and association analyses are discussed...
  27. ncbi request reprint Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees
    David A Good
    Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Australia
    Bone 35:277-82. 2004
    ..Screening of affected members from 10 further PDB families identified the previously reported P392L mutation in one family. No SQSTM1/p62 coding mutations were found in the remaining 9 families or in 113 age-matched controls...
  28. 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...
  29. 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)...
  30. ncbi request reprint Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females
    Sarah E Medland
    Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane 4029, Australia
    Behav Genet 35:735-44. 2005
    ..Thus, consistent with Witelson's theory of testosterone action, in all three samples the likelihood of left handedness increased in those individuals with variants of the androgen receptor associated with lower testosterone levels...
  31. 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...
  32. doi request reprint Red hair is the null phenotype of MC1R
    Kimberley A Beaumont
    Melanogenix Group, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia
    Hum Mutat 29:E88-94. 2008
    ..We report here the first case of a homozygous MC1R null individual, phenotypic analysis indicates that red hair and fair skin is found in the absence of MC1R function...
  33. ncbi request reprint New concepts for distinguishing the hidden patterns of linkage disequilibrium which underlie association between genotypes and complex phenotypes
    Jacqueline Wicks
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res Hum Genet 8:95-100. 2005
    ..This provides a basis for distinguishing the hidden LD patterns and might help to locate the functional variants responsible for the association...
  34. pmc GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development
    Mats 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...
  35. doi request reprint Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning
    Hien T T Luong
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res Hum Genet 14:408-16. 2011
    ..Our results suggest that variation in the TGF9 signaling pathway type II receptors has limited effects on DZ twinning rates in humans...
  36. doi request reprint Investigation of the relationship between smoking and appendicitis in Australian twins
    Chris Oldmeadow
    Department of Mathematical Sciences, Queensland University of Technology, Mathematical Sciences, O Block, Gardens Point Campus, Brisbane, Australia
    Ann Epidemiol 18:631-6. 2008
    ..Previous studies have shown an increased risk for cigarette smokers but no accounts for the timing of exposure to smoking relative to appendectomy were made...
  37. doi request reprint A study of diabetes mellitus within a large sample of Australian twins
    Julianne Condon
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res Hum Genet 11:28-40. 2008
    ..The bivariate genetic analysis (under the multifactorial threshold model) estimated the genetic correlation between body mass index (BMI) and T2D to be 0.46, and the environmental correlation at only 0.06...
  38. ncbi request reprint Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families
    Belinda K Cornes
    Genetic Epidemiology, Queensland Institute of Medical Research, Post Office Royal Brisbane Hospital, QLD, Australia
    Twin Res Hum Genet 8:616-32. 2005
    ....
  39. ncbi request reprint Association between polymorphisms in the progesterone receptor gene and endometriosis
    Susan A Treloar
    Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Mol Hum Reprod 11:641-7. 2005
    ..Further, analysis of our results pooled with those from two previous studies suggested that neither the T2 allele of the AluIns nor the T1/T2 genotype was associated with endometriosis...
  40. 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...
  41. ncbi request reprint The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes
    Richard A Sturm
    Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia
    Pigment Cell Res 16:266-72. 2003
    ..Such genetic association studies combined with the functional analysis of MC1R variant alleles in melanocytic cells should provide a link in understanding the association between pigmentary phototypes and skin cancer risk...
  42. ncbi request reprint Major quantitative trait locus for eosinophil count is located on chromosome 2q
    David M Evans
    Queensland Institute of Medical Research and Joint Genetics Program, University of Queensland, Brisbane, Australia
    J Allergy Clin Immunol 114:826-30. 2004
    ..Quantitative trait loci (QTL) linkage analysis of eosinophil count may be a more powerful strategy of mapping genes involved in asthma than linkage analysis using affected relative pairs...
  43. ncbi request reprint Handedness in twins: joint analysis of data from 35 samples
    Sarah E Medland
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res Hum Genet 9:46-53. 2006
    ..This lack of power is seldom mentioned within studies, and has contributed to the misconception that twin studies of handedness are not informative...
  44. pmc A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins
    Jodie N Painter
    Molecular Epidemiology, Genetic Epidemiology and Neurogenetics Laboratories, Queensland Institute of Medical Research, Brisbane, Australia
    Hum Reprod 25:1569-80. 2010
    ..To search for new candidate loci for twinning, we conducted a genome-wide linkage scan in 525 families using microsatellite and single nucleotide polymorphism marker panels...
  45. ncbi request reprint The value of relatives with phenotypes but missing genotypes in association studies for quantitative traits
    Peter M Visscher
    Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
    Genet Epidemiol 30:30-6. 2006
    ..We show that a two-step procedure, in which missing genotypes are imputed and subsequently an association analysis is performed, is efficient and powerful...
  46. doi request reprint Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients
    Richard A Sturm
    Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
    J Invest Dermatol 134:141-9. 2014
    ....
  47. ncbi request reprint A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q
    Gu Zhu
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res 7:197-210. 2004
    ..We conclude that most variation in eye color in Europeans is due to polymorphism in OCA2 but that there may be modifiers at several other loci...
  48. pmc A genomewide search for type 2 diabetes-susceptibility genes in indigenous Australians
    Frances Busfield
    Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Am J Hum Genet 70:349-57. 2002
    ..05, at marker D3S1311) and chromosome 8 (+1.77 at theta=0.0, at marker D8S549). These chromosomal regions are likely to harbor novel susceptibility genes for type 2 diabetes in the indigenous Australian population...
  49. pmc Robust estimation of experimentwise P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13
    Manuel A R Ferreira
    Queensland Institute of Medical Research, Brisbane, Australia
    Am J Hum Genet 77:1075-85. 2005
    ....
  50. doi request reprint Report of Endometrial Cancer in Australian BRCA1 and BRCA2 mutation-positive Families
    David L Duffy
    Genetics and Population Health Division, Queensland Institute of Medical Research, Herston, Queensland, Australia
    Twin Res Hum Genet 14:111-8. 2011
    ..Early onset EC in carriers without tamoxifen use suggests that further study is required to assess association of modest EC risk with BRCA1/2 mutation status alone...
  51. pmc Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
    Manuel A R Ferreira
    The Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Lancet 378:1006-14. 2011
    ..We aimed to identify novel genetic variants affecting asthma risk, since these might provide novel insights into molecular mechanisms underlying the disease...
  52. doi request reprint Heritability and linkage analysis of appendicitis utilizing age at onset
    Christopher Oldmeadow
    Department of Mathematical Sciences, Queensland University of Technology, Brisbane, Australia
    Twin Res Hum Genet 12:150-7. 2009
    ..Treating age of onset of appendicitis as a censored survival trait revealed a heritability of 0.21, and found evidence of linkage to Chromosome 1p37.3...
  53. pmc Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3
    Stuart 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...
  54. ncbi request reprint Estimation of variance components for age at menarche in twin families
    Carl A Anderson
    Genetic Epidemiology Group, Queensland Institute of Medical Research, Brisbane 4029, Australia
    Behav Genet 37:668-77. 2007
    ..50 and 0.54, and common environmental effects to be 0.31 and 0.29, respectively. We conclude that variation in AAM can be explained by additive genetic and common environmental components...
  55. ncbi request reprint Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q
    David M Evans
    Queensland Institute of Medical Research, Brisbane, Australia
    Eur J Hum Genet 12:835-42. 2004
    ....
  56. pmc The Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures
    Amanda J Baxter
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Twin Res Hum Genet 11:183-96. 2008
    ..Characteristics of the cases and repeatability of sun exposure and phenotype measures between the baseline and the follow-up surveys, from 6 to 17 years later, are also described...
  57. ncbi request reprint A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31
    Sri Niranjan Shekar
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    J Invest Dermatol 126:277-82. 2006
    ..In the same analysis, a peak was seen at 4q23 with a lod score of 1.55. A possible candidate for the peak at 12p13.31 is the protease inhibitor, alpha-2-macroglobulin...
  58. pmc The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Amanda B Spurdle
    Queensland Institute of Medical Research, Brisbane, Australia
    Breast Cancer Res 7:R176-83. 2005
    ..Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier age at onset of breast cancer...
  59. pmc Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma
    Marina Kvaskoff
    Centre for research in Epidemiology and Population Health, Institut Gustave Roussy, Villejuif, France
    Twin Res Hum Genet 14:422-32. 2011
    ..Further studies are warranted to confirm these findings and improve our understanding of these relationships...
  60. ncbi request reprint Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits
    Kasturee Jagirdar
    Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia
    Pigment Cell Melanoma Res 27:552-64. 2014
    ..9%. Based on cell culture findings and haplotype associations, we have used an additive model to assess the penetrance of the ten possible TYR genotypes derived from the combination of these haplotypes. ..
  61. ncbi request reprint Genetic and environmental influences on skin pattern deterioration
    Sri Niranjan Shekar
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, Brisbane, QLD, Australia
    J Invest Dermatol 125:1119-29. 2005
    ..Melanin content appears to provide a protective effect against skin pattern deterioration, perhaps because of the structural differences in melanosomes between different skin types or the free radical scavenging properties of melanin...
  62. ncbi request reprint Linkage and association analysis of radiation damage repair genes XRCC3 and XRCC5 with nevus density in adolescent twins
    Gu Zhu
    Queensland Institute of Medical Research, Brisbane, Australia
    Twin Res 6:315-21. 2003
    ..If variation in XRCC3 or XRCC5 influences UV sensitivity, and indirectly affects nevus density, then the effects are small...
  63. pmc Human pigmentation genes under environmental selection
    Richard A Sturm
    Institute for Molecular Bioscience, Melanogenix Group, The University of Queensland, Brisbane, QLD 4072, Australia
    Genome Biol 13:248. 2012
    ..Environmental changes have had an impact on selected pigmentation genes as populations have expanded into different regions of the globe...
  64. pmc A non-synonymous mutation in the canine Pkd1 gene is associated with autosomal dominant polycystic kidney disease in Bull Terriers
    Puya Gharahkhani
    School of Veterinary Science, The University of Queensland, Gatton, Queensland, Australia
    PLoS ONE 6:e22455. 2011
    ..Thus, BTPKD is associated with a missense mutation in Pkd1, and the application of this mutation specific assay could reduce disease transmission by allowing diagnosis of disease in young animals prior to breeding...
  65. ncbi request reprint Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity
    Albertina So
    Endocrine Hypertension Research Centre, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    J Hypertens 23:1477-84. 2005
    ..Mutations in the exons or intron-exon boundaries of PRKAR1B (7p22, closely related to PRKAR1A, which is mutated in Carney complex) have been excluded in this family...
  66. ncbi request reprint Special twin environments, genetic influences and their effects on the handedness of twins and their siblings
    Sarah E Medland
    Genetic Epidemiology Unit, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland 4029, Australia
    Twin Res 6:119-30. 2003
    ....
  67. ncbi request reprint A simulation study concerning the effect of varying the residual phenotypic correlation on the power of bivariate quantitative trait loci linkage analysis
    David M Evans
    Queensland Institute of Medical Research and Joint Genetics Program, University of Queensland, PO Royal Brisbane Hospital, Brisbane 4029, Australia
    Behav Genet 34:135-41. 2004
    ..g., from multivariate structural equation modeling of twin data) or a sound theoretical argument that the QTL and environmental factors induce covariation in opposite directions...
  68. pmc Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26
    Susan A Treloar
    Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Melbourne, Australia
    Am J Hum Genet 77:365-76. 2005
    ..Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments...
  69. pmc PTPN22 polymorphisms may indicate a role for this gene in atopic dermatitis in West Highland white terriers
    Joana Barros Roque
    Centre for Companion Animal Health, School of Veterinary Science, The University of Queensland, St Lucia, Queensland, 4069, Australia
    BMC Res Notes 4:571. 2011
    ..abstract:..
  70. ncbi request reprint Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities
    Dale R Nyholt
    Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    Genet Epidemiol 26:231-44. 2004
    ....
  71. pmc Linkage of Paget disease of bone to a novel region on human chromosome 18q23
    David A Good
    Department of Diabetes and Endocrinology, Princess Alexandra Hospital, Brisbane, Australia
    Am J Hum Genet 70:517-25. 2002
    ..71, at marker D18S70. Our data are consistent with genetic heterogeneity within the pedigree and indicate that 18q23 harbors a novel susceptibility gene for PDB...
  72. pmc Evidence of genetic effects on blood lead concentration
    John B Whitfield
    Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Sydney, Australia
    Environ Health Perspect 115:1224-30. 2007
    ..However, there has been little investigation of individual differences in lead absorption, distribution, or toxicity, or of genetic causes of such variation...
  73. pmc A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation
    Jiali Han
    Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 4:e1000074. 2008
    ..The signals detected in a region around the MC1R gene were explained by MC1R red hair color alleles. Our results suggest that the IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation...
  74. pmc Common sequence variants on 20q11.22 confer melanoma susceptibility
    Kevin 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...
  75. ncbi request reprint Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
    Kimberley A Beaumont
    Institute for Molecular Bioscience, University of Queensland, Bristane, Australia
    Hum Mol Genet 16:2249-60. 2007
    ..These findings show the first direct correlations between variant MC1R biochemical properties and pigmentation phenotype...
  76. pmc Recent human effective population size estimated from linkage disequilibrium
    Albert Tenesa
    Colon Cancer Genetics Group, University of Edinburgh, Western General Hospital, Edinburgh, UK
    Genome Res 17:520-6. 2007
    ..The estimates of N(e) are lower than previously published estimates based on heterozygosity, possibly because they represent one or more bottlenecks in human population size that occurred approximately 10,000 to 200,000 years ago...
  77. ncbi request reprint ADAM33 haplotypes are associated with asthma in a large Australian population
    Mary Anne Kedda
    The Co operative Research Centre CRC for Asthma, Sydney, Australia
    Eur J Hum Genet 14:1027-36. 2006
    ..Our analysis of ADAM33 haplotypes further suggests a likely role for ADAM33 in the asthma phenotype, although it does not exclude an association with another locus in linkage disequilibrium with ADAM33...
  78. ncbi request reprint The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes
    Jennifer Henderson
    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital and Central Clinical School, The University of Sydney K25, Camperdown, 2050, Australia
    Hum Genet 118:416-23. 2005
    ....
  79. 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
    ....
  80. ncbi request reprint The Korean Twin Registry--methods, current stage, and interim results
    Joohon Sung
    Department of Preventive Medicine, Kangwon National University, Chuncheon, Korea
    Twin Res 5:394-400. 2002
    ..Despite the strength in size, availability of health outcomes, and some lifestyle and basic laboratory data, we need accurate zygosity information to improve the validity of the results...