Experts and Doctors on genotype in Brisbane, Queensland, Australia


Locale: Brisbane, Queensland, Australia
Topic: genotype

Top Publications

  1. Pritchard A, Pritchard C, Bentham P, Lendon C. Investigation of the role of the dopamine transporter in susceptibility to behavioural and psychological symptoms of patients with probable Alzheimer's disease. Dement Geriatr Cogn Disord. 2008;26:257-60 pubmed publisher
    ..Our data suggest that the DAT1 3'-UTR VNTR could play a role in susceptibility to irritability and AMB. The findings presented here require replication in large well-characterised cohorts. ..
  2. Lee S, Harold D, Nyholt D, Goddard M, Zondervan K, Williams J, et al. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Hum Mol Genet. 2013;22:832-41 pubmed publisher
    ..We provide strong evidence that a substantial proportion of variation in liability is explained by common SNPs, and thereby give insights into the genetic architecture of the diseases. ..
  3. Johnatty S, Beesley J, Chen X, Macgregor S, Duffy D, Spurdle A, et al. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". PLoS Genet. 2010;6:e1001016 pubmed publisher
    ..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. ..
  4. Nyholt D, LaForge K, Kallela M, Alakurtti K, Anttila V, Farkkila M, et al. A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet. 2008;17:3318-31 pubmed publisher
    ..Multiple rare variants or trans-regulatory elements of these genes are not ruled out. ..
  5. Gueven N, Luff J, Peng C, Hosokawa K, Bottle S, Lavin M. Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant. Free Radic Biol Med. 2006;41:992-1000 pubmed
    ..These data suggest that antioxidant therapy has considerable potential in the management of ataxia telangiectasia and possibly other neurodegenerative disorders where oxidative stress is implicated...
  6. Wray N, James M, Dumenil T, Handoko H, Lind P, Montgomery G, et al. Association study of candidate variants of COMT with neuroticism, anxiety and depression. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1314-8 pubmed publisher
    ..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. ..
  7. Johnatty S, Couch F, Fredericksen Z, Tarrell R, Spurdle A, Beesley J, et al. No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer Res Treat. 2009;117:371-9 pubmed publisher
    ..93, 95% CI 0.80-1.07). We conclude that there is no evidence that either GATA3 rs570613, or any variant in strong linkage disequilibrium with it, is associated with breast cancer risk in women. ..
  8. Kim H, Luquet D, van Oosterom E, Dingkuhn M, Hammer G. Regulation of tillering in sorghum: genotypic effects. Ann Bot. 2010;106:69-78 pubmed publisher
    ..Incorporating the results in crop growth simulation models could provide insight into the complex genotype-by-management-by-environment interactions associated with drought adaptation. ..
  9. Whitelaw N, Chong S, Morgan D, Nestor C, Bruxner T, Ashe A, et al. Reduced levels of two modifiers of epigenetic gene silencing, Dnmt3a and Trim28, cause increased phenotypic noise. Genome Biol. 2010;11:R111 pubmed publisher
    ..These findings have broad implications for understanding the mechanisms underlying sporadic and complex disease in humans. ..

More Information

Publications188 found, 100 shown here

  1. Duncan E, Danoy P, Kemp J, Leo P, McCloskey E, Nicholson G, et al. Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genet. 2011;7:e1001372 pubmed publisher
    ..In addition to identifying further genes associated with BMD, this study confirms the efficiency of extreme-truncate selection designs for quantitative trait association studies. ..
  2. Buckley C, Trembizki E, Donovan B, Chen M, Freeman K, Guy R, et al. A real-time PCR assay for direct characterization of the Neisseria gonorrhoeae GyrA 91 locus associated with ciprofloxacin susceptibility. J Antimicrob Chemother. 2016;71:353-6 pubmed publisher
    ..4%, 95% CI = 96.6%-99.9%) samples. The use of a PCR assay for detection of mutation in gyrA applied directly to clinical samples can predict ciprofloxacin susceptibility in N. gonorrhoeae. ..
  3. Lai J, Kedda M, Hinze K, Smith R, Yaxley J, Spurdle A, et al. PSA/KLK3 AREI promoter polymorphism alters androgen receptor binding and is associated with prostate cancer susceptibility. Carcinogenesis. 2007;28:1032-9 pubmed
  4. Voisey J, Swagell C, Hughes I, Morris C, van Daal A, Noble E, et al. The DRD2 gene 957C>T polymorphism is associated with posttraumatic stress disorder in war veterans. Depress Anxiety. 2009;26:28-33 pubmed publisher
    ..PTSD individuals were more likely to carry the C allele compared to the controls (P=0.021). Our findings suggest that the 957C>T polymorphism in the DRD2 gene is one of the genetic factors for susceptibility to PTSD. ..
  5. Gochee P, Powell E, Purdie D, Pandeya N, Kelemen L, Shorthouse C, et al. Association between apolipoprotein E epsilon4 and neuropsychiatric symptoms during interferon alpha treatment for chronic hepatitis C. Psychosomatics. 2004;45:49-57 pubmed
    ..Moreover, pathways involving APOE should be considered in understanding the pathophysiology of interferon alpha-induced neuropsychiatric complications...
  6. Jekimovs C, Chen X, Arnold J, Gatei M, Richard D, Spurdle A, et al. Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals. Br J Cancer. 2005;92:784-90 pubmed
    ..Such compensation of the 1100delC defect in CHEK2 might explain the rather low breast cancer risk associated with the CHEK2 variant, compared to that associated with truncating mutations in BRCA1 or BRCA2. ..
  7. Young K, Bartlett P, Coulson E. Neural progenitor number is regulated by nuclear factor-kappaB p65 and p50 subunit-dependent proliferation rather than cell survival. J Neurosci Res. 2006;83:39-49 pubmed
    ..No effect on cell survival was observed. This suggests that the number and fate of neural progenitor cells are more strongly regulated by cell cycle control than survival. ..
  8. Hansell N, Agrawal A, Whitfield J, Morley K, Gordon S, Lind P, et al. Can we identify genes for alcohol consumption in samples ascertained for heterogeneous purposes?. Alcohol Clin Exp Res. 2009;33:729-39 pubmed publisher
    ..However, sample characteristics, such as participant age, and trait distribution, may have substantial effects on the strength of the genetic signal. These results can inform forthcoming GWAS where the same restrictions apply. ..
  9. McManus D. Current status of the genetics and molecular taxonomy of Echinococcus species. Parasitology. 2013;140:1617-23 pubmed publisher
    ..A revised taxonomy for species in the Echinococcus genus has been proposed that is generally accepted, and is based on the new molecular data and the biological and epidemiological characteristics of host-adapted species and strains. ..
  10. Spurdle A, Hopper J, Chen X, Dite G, McCredie M, Giles G, et al. The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women. Cancer Epidemiol Biomarkers Prev. 2001;10:1287-93 pubmed
    ..4- to 1.7-fold, our results suggest that the SRD5A2 (TA)(9) allele is unlikely to be associated with moderate alterations in breast or ovarian cancer risk. ..
  11. Taylor A, Morris R, Fluharty M, Bjorngaard J, Ã…svold B, Gabrielsen M, et al. Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers. PLoS Genet. 2014;10:e1004799 pubmed publisher
    ..This demonstrates that novel associations may be obscured by hidden population sub-structure. Stratification on well-characterized environmental factors known to impact on health outcomes may therefore reveal novel genetic associations. ..
  12. Wei L, Shan Z, Flower R, Wang Z, Wen J, Luo G, et al. The distribution of MNS hybrid glycophorins with Mur antigen expression in Chinese donors including identification of a novel GYP.Bun allele. Vox Sang. 2016;111:308-314 pubmed publisher
    ..Mur RBCs as the reagent cells to avoid neglecting weak antibodies. A separate GYP.Bun lineage found in the southern China provides evidence for further complexity in the MNS system. ..
  13. Little M, Holmes G, Walsh P. WT1: what has the last decade told us?. Bioessays. 1999;21:191-202 pubmed
    ..Finally, further research into the role of WT1 in haematopoiesis will improve our understanding of WT1 in leukaemia. ..
  14. Zhao Z, Nyholt D, Le L, Martin N, James M, Treloar S, et al. KRAS variation and risk of endometriosis. Mol Hum Reprod. 2006;12:671-6 pubmed
    ..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. ..
  15. Riha R, Yang I, Rabnott G, Tunnicliffe A, Fong K, Zimmerman P. Cytokine gene polymorphisms in idiopathic pulmonary fibrosis. Intern Med J. 2004;34:126-9 pubmed
    ..Further research is needed to assess the utility of cytokine gene polymorphisms as markers of disease -susceptibility. ..
  16. Duffy D, Montgomery G, Chen W, Zhao Z, Le L, James M, et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am J Hum Genet. 2007;80:241-52 pubmed
  17. Medland S, Nyholt D, Painter J, McEvoy B, McRae A, Zhu G, et al. Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet. 2009;85:750-5 pubmed publisher
    ..5x10(-31)). These variants are at their highest frequency in Northern Europeans, paralleling the distribution of the straight-hair EDAR variant in Asian populations. ..
  18. Whiteman D, Parmar P, Fahey P, Moore S, Stark M, Zhao Z, et al. Association of Helicobacter pylori infection with reduced risk for esophageal cancer is independent of environmental and genetic modifiers. Gastroenterology. 2010;139:73-83; quiz e11-2 pubmed publisher
    ..H pylori infection is inversely associated with risks of EAC and EGJAC (but not ESCC); the reduction in risk is similar across subgroups of potential modifiers. ..
  19. Liu W, Rourke M, Holmes E, Aaskov J. Persistence of multiple genetic lineages within intrahost populations of Ross River virus. J Virol. 2011;85:5674-8 pubmed publisher
  20. Yang J, Ferreira T, Morris A, Medland S, Madden P, Heath A, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet. 2012;44:369-75, S1-3 pubmed publisher
    ..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. ..
  21. Kidd T, Ramsay K, Hu H, Marks G, Wainwright C, Bye P, et al. Shared Pseudomonas aeruginosa genotypes are common in Australian cystic fibrosis centres. Eur Respir J. 2013;41:1091-100 pubmed publisher
    ..At least one of the predominant and widespread genotypes is associated with increased healthcare utilisation. Longitudinal studies are now needed to determine the infection control implications of these findings. ..
  22. Kidd T, Ritchie S, Ramsay K, Grimwood K, Bell S, Rainey P. Pseudomonas aeruginosa exhibits frequent recombination, but only a limited association between genotype and ecological setting. PLoS ONE. 2012;7:e44199 pubmed publisher
    ..aeruginosa population. The increased abundance of some CF strains in different geographical regions is a likely product of chance colonisation events followed by adaptation to the CF lung and horizontal transmission among patients. ..
  23. Day F, Ruth K, Thompson D, Lunetta K, Pervjakova N, Chasman D, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47:1294-1303 pubmed publisher
    ..Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms. ..
  24. Lyons R, Johnston D, McGowan M, Laing A, Robinson B, Owen H, et al. E7 (1057?TA) mutation of the acidic ?-glucosidase gene causes Pompe's disease in Droughtmaster cattle. Aust Vet J. 2017;95:138-142 pubmed publisher
    ..Droughtmaster breeders should take action to prevent any increase in the prevalence of this lethal allele in the breed as it could cause both welfare issues and production losses if ignored. ..
  25. Bowes J, Ashcroft J, Dand N, Jalali Najafabadi F, Bellou E, Ho P, et al. Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis. Ann Rheum Dis. 2017;76:1774-1779 pubmed publisher
    ..Correcting for bias has important implications for cross-phenotype genetic studies. ..
  26. Spurdle A, Goodwin B, Hodgson E, Hopper J, Chen X, Purdie D, et al. The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer. Pharmacogenetics. 2002;12:355-66 pubmed
  27. Munns C, Glass I, Flanagan S, Hayes M, Williams B, Berry M, et al. Familial growth and skeletal features associated with SHOX haploinsufficiency. J Pediatr Endocrinol Metab. 2003;16:987-96 pubmed
    ..Females were more severely affected than males. We conclude that SHOX is a major growth gene and that mutations are associated with a broad range of phenotype. ..
  28. Beaumont K, Newton R, Smit D, Leonard J, Stow J, Sturm R. Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk. Hum Mol Genet. 2005;14:2145-54 pubmed
  29. Hoffmann D, Jiang Q, Men A, Kinkema M, Gresshoff P. Nodulation deficiency caused by fast neutron mutagenesis of the model legume Lotus japonicus. J Plant Physiol. 2007;164:460-9 pubmed
  30. Chen L, Meyers D, Javorsky G, Burstow D, Lolekha P, Lucas M, et al. Arg389Gly-beta1-adrenergic receptors determine improvement in left ventricular systolic function in nonischemic cardiomyopathy patients with heart failure after chronic treatment with carvedilol. Pharmacogenet Genomics. 2007;17:941-9 pubmed
    ..05). In patients with nonischemic dilated cardiomyopathy, carvedilol leads to a significantly greater improvement in LVEF in patients with the Arg389Arg-beta1 adrenergic receptor phenotype. ..
  31. Lind P, Macgregor S, Montgomery G, Heath A, Martin N, Whitfield J. Effects of GABRA2 variation on physiological, psychomotor and subjective responses in the alcohol challenge twin study. Twin Res Hum Genet. 2008;11:174-82 pubmed publisher
    ..Because of the large number of phenotypes tested, these possibly significant findings will need to be confirmed in further studies. ..
  32. Fowler E, Doecke J, Simms L, Zhao Z, Webb P, Hayward N, et al. ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: further support for significant disease heterogeneity. Am J Gastroenterol. 2008;103:2519-26 pubmed publisher
    ..002). This was strongest for patients with extensive, severe disease. We confirm the strong association between T300A and CD, specifically ileal subphenotype, and also report the first strong association of this variant with UC. ..
  33. Hyland C, Gardener G, Davies H, Ahvenainen M, Flower R, Irwin D, et al. Evaluation of non-invasive prenatal RHD genotyping of the fetus. Med J Aust. 2009;191:21-5 pubmed
    ..Non-invasive testing of multiple exons provides a robust method of assessing fetal RHD status, and provides a safer alternative to amniocentesis for the management of RhD-negative pregnant women who are isoimmunised. ..
  34. Chen A, Keleher A, Kedda M, Spurdle A, McMillan N, Antonsson A. Human papillomavirus DNA detected in peripheral blood samples from healthy Australian male blood donors. J Med Virol. 2009;81:1792-6 pubmed publisher
    ..HPV was also isolated in the B cells, dendritic cells, NK cells, and neutrophils. To conclude, HPV present in PBMCs could represent a reservoir of virus and a potential new route of transmission. ..
  35. Nourse J, Lea R, Crooks P, Wright G, Tran H, Catalano J, et al. The KIR2DS2/DL2 genotype is associated with adult persistent/chronic and relapsed immune thrombocytopenia independently of FCGR3a-158 polymorphisms. Blood Coagul Fibrinolysis. 2012;23:45-50 pubmed publisher
    ..Further studies are required to establish the mechanistic basis for these observations and their potential impact on immune-based therapies. ..
  36. Middelberg R, Heath A, Madden P, Montgomery G, Martin N, Whitfield J. Evidence of differential allelic effects between adolescents and adults for plasma high-density lipoprotein. PLoS ONE. 2012;7:e35605 pubmed publisher
  37. Lind P, Zhu G, Montgomery G, Madden P, Heath A, Martin N, et al. Genome-wide association study of a quantitative disordered gambling trait. Addict Biol. 2013;18:511-22 pubmed publisher
    ..While further replication is required, the identification of susceptibility loci and biological pathways will be important in characterizing the biological mechanisms that underpin disordered gambling. ..
  38. Winham S, Pirie A, Chen Y, Larson M, Fogarty Z, Earp M, et al. Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer. Cancer Epidemiol Biomarkers Prev. 2016;25:446-54 pubmed publisher
    ..Cancer Epidemiol Biomarkers Prev; 25(3); 446-54. ©2016 AACR. ..
  39. Seibert T, Fan C, Wang Y, Zuber V, Karunamuni R, Parsons J, et al. Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts. BMJ. 2018;360:j5757 pubmed publisher
    ..Polygenic hazard scores can be used for personalised genetic risk estimates that can predict for age at onset of aggressive PCa. ..
  40. Spurdle A, Hopper J, Dite G, Chen X, Cui J, McCredie M, et al. CYP17 promoter polymorphism and breast cancer in Australian women under age forty years. J Natl Cancer Inst. 2000;92:1674-81 pubmed
    ..48 (95% CI = 1.13-10.74; P: =.04), which is equivalent to a cumulative risk of 16% to age 70 years. The CC genotype may modify the effect of other familial risk factors for early-onset breast cancer. ..
  41. Schepers G, Koopman -. Mouse Sox8 is located between, not within,the t-complex deletions t(w18) and t(h20) on chromosome 17. Cytogenet Cell Genet. 2001;93:91-3 pubmed
    ..These data exclude Sox8 from contributing to the t(w18) and t(h20) phenotypes, and provide an additional marker for structural characterization of this complex genomic region. ..
  42. Cullinan M, Westerman B, Hamlet S, Palmer J, Faddy M, Lang N, et al. A longitudinal study of interleukin-1 gene polymorphisms and periodontal disease in a general adult population. J Clin Periodontol. 2001;28:1137-44 pubmed
    ..gingivalis which suggests that IL-1 genotype is a contributory but non-essential risk factor for periodontal disease progression in this population. ..
  43. Zietsch B, Hansen J, Hansell N, Geffen G, Martin N, Wright M. Common and specific genetic influences on EEG power bands delta, theta, alpha, and beta. Biol Psychol. 2007;75:154-64 pubmed
    ..Non-additive genetic effects on beta power and a common environment effect on delta, theta, and alpha powers were observed in the frontal region. ..
  44. Whiley D, Limnios E, Ray S, Sloots T, Tapsall J. Diversity of penA alterations and subtypes in Neisseria gonorrhoeae strains from Sydney, Australia, that are less susceptible to ceftriaxone. Antimicrob Agents Chemother. 2007;51:3111-6 pubmed
    ..Overall, the results of our study show that N. gonorrhoeae strains exhibiting reduced sensitivity to ceftriaxone are not of a particular subtype and that a number of different mutations in PBP 2 may contribute to this phenomenon. ..
  45. Voisey J, Swagell C, Hughes I, Lawford B, Young R, Morris C. HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association. Eur Psychiatry. 2012;27:372-6 pubmed publisher
    ..Our results confirm that COMT is a good candidate for schizophrenia risk, by replicating the association with rs4680 and identifying a novel SNP association. ..
  46. Seah I, Ambrose L, Cooper R, Beebe N. Multilocus population genetic analysis of the Southwest Pacific malaria vector Anopheles punctulatus. Int J Parasitol. 2013;43:825-35 pubmed publisher
  47. Dore G, Conway B, Luo Y, Janczewska E, Knysz B, Liu Y, et al. Efficacy and safety of ombitasvir/paritaprevir/r and dasabuvir compared to IFN-containing regimens in genotype 1 HCV patients: The MALACHITE-I/II trials. J Hepatol. 2016;64:19-28 pubmed publisher
    ..OBV/PTV/r+DSV±RBV was associated with a generally better mental and physical health, more favorable tolerability, and lower rates of treatment discontinuation due to adverse events. ..
  48. Mudadu M, Porto Neto L, Mokry F, Tizioto P, Oliveira P, Tullio R, et al. Genomic structure and marker-derived gene networks for growth and meat quality traits of Brazilian Nelore beef cattle. BMC Genomics. 2016;17:235 pubmed publisher
    ..The gene networks constructed from the AWM/PCIT methodology were a useful alternative in characterizing genes and gene networks that were allegedly influential in growth and meat quality traits in Nelore cattle. ..
  49. Holdsworth Carson S, Fung J, Luong H, Sapkota Y, Bowdler L, Wallace L, et al. Endometrial vezatin and its association with endometriosis risk. Hum Reprod. 2016;31:999-1013 pubmed publisher
    ..G.W.M. is supported by the NHMRC Fellowship scheme (GNT1078399). S.J.H.-C. is supported by the J.N. Peters Bequest Fellowship. The authors declare no competing interests. N/A. ..
  50. Hume G, Doecke J, Huang N, Fowler E, Brown I, Simms L, et al. Altered Expression of Angiotensinogen and Mediators of Angiogenesis in Ileal Crohn's Disease. J Gastrointestin Liver Dis. 2016;25:39-48 pubmed publisher
    ..A novel reduction in HIF1α expression in non-inflamed ileal mucosa in CD patients was also demonstrated. ..
  51. Bodetti T, Viggers K, Warren K, Swan R, Conaghty S, Sims C, et al. Wide range of Chlamydiales types detected in native Australian mammals. Vet Microbiol. 2003;96:177-87 pubmed
    ..These findings provide further evidence that novel Chlamydiales infections occur in a wide range of hosts and that, in some of these, the chlamydial infections may contribute to clinical disease. ..
  52. Sturm R, Duffy D, Box N, Chen W, Smit D, Brown D, et al. The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res. 2003;16:266-72 pubmed
    ..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. ..
  53. Box N, Duffy D, Irving R, Russell A, Chen W, Griffyths L, et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol. 2001;116:224-9 pubmed
  54. Sturm R. Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res. 2002;12:405-16 pubmed
  55. Proctor D, Coulson E, Dodd P. Reduction in post-synaptic scaffolding PSD-95 and SAP-102 protein levels in the Alzheimer inferior temporal cortex is correlated with disease pathology. J Alzheimers Dis. 2010;21:795-811 pubmed publisher
    ..This is the first study to investigate SAP-102 in the aging human brain and suggest a possible mechanism for NMDA receptor expression aberrations in AD. ..
  56. Wong C, Liyou N, Leggett B, Young J, Johnson A, McManus M. Association of the SULT1A1 R213H polymorphism with colorectal cancer. Clin Exp Pharmacol Physiol. 2002;29:754-8 pubmed
    ..4. From this study, we conclude that the SULT1A1 R213H polymorphism is not linked with colorectal cancer in this elderly Australian population. ..
  57. James M, Hayward N, Dumenil T, Montgomery G, Martin N, Duffy D. Epidermal growth factor gene (EGF) polymorphism and risk of melanocytic neoplasia. J Invest Dermatol. 2004;123:760-2 pubmed
    ..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. ..
  58. Petridis C, Brook M, Shah V, Kohut K, Gorman P, Caneppele M, et al. Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res. 2016;18:22 pubmed publisher
    ..0x10(-8). In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist. ..
  59. Bellgrove M, Chambers C, Johnson K, Daibhis A, Daly M, Hawi Z, et al. Dopaminergic genotype biases spatial attention in healthy children. Mol Psychiatry. 2007;12:786-92 pubmed
    ..Our data provide the first evidence in healthy individuals of a genetically mediated bias in spatial attention that is related to dopamine signalling. ..
  60. McEvoy B, Montgomery G, McRae A, Ripatti S, Perola M, Spector T, et al. Geographical structure and differential natural selection among North European populations. Genome Res. 2009;19:804-14 pubmed publisher
  61. Simms L, Doecke J, Walsh M, Huang N, Fowler E, Radford Smith G. Reduced alpha-defensin expression is associated with inflammation and not NOD2 mutation status in ileal Crohn's disease. Gut. 2008;57:903-10 pubmed publisher
    ..The aim of this study was to independently assess whether NOD2, alpha-defensins and Crohn's disease are linked...
  62. Medland S, Neale M. An integrated phenomic approach to multivariate allelic association. Eur J Hum Genet. 2010;18:233-9 pubmed publisher
    ..Perl scripts that takes ped and dat files as input and produces Mx scripts and data for running the CMV approach can be downloaded from ..
  63. Lawford B, Young R, Swagell C, Barnes M, Burton S, Ward W, et al. The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia. Schizophr Res. 2005;73:31-7 pubmed
    ..Enhanced understanding of schizophrenia afforded by this finding may lead to advances in treatment and prevention. ..
  64. Yang Y, Rosenzvit M, Zhang L, Zhang J, McManus D. Molecular study of Echinococcus in west-central China. Parasitology. 2005;131:547-55 pubmed publisher
    ..Such adaptations may also result in different sensitivity to drugs or increased virulence for hosts that will impede control efforts and even affect vaccination strategies against Echinococcus...
  65. Kaity A, Ashmore S, Drew R, Dulloo M. Assessment of genetic and epigenetic changes following cryopreservation in papaya. Plant Cell Rep. 2008;27:1529-39 pubmed publisher
    ..52-6.62%) of detected markers. These findings have not been reported previously for papaya, and indicate some genotype dependent variability in DNA modifications occur following cryopreservation which may result in somaclonal variation. ..
  66. Amin Al Olama A, Benlloch S, Antoniou A, Giles G, Severi G, Neal D, et al. Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci. Cancer Epidemiol Biomarkers Prev. 2015;24:1121-9 pubmed publisher
    ..We demonstrate that the risk profiling based on SNPs can identify men at substantially increased or reduced risk that could have useful implications for targeted prevention and screening programs. ..
  67. Powell L, Seckington R, Deugnier Y. Haemochromatosis. Lancet. 2016;388:706-16 pubmed publisher
    ..Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research. ..
  68. Lawford B, Young R, Noble E, Sargent J, Rowell J, Shadforth S, et al. The D(2) dopamine receptor A(1) allele and opioid dependence: association with heroin use and response to methadone treatment. Am J Med Genet. 2000;96:592-8 pubmed
    ..25 +/- 0.05; p = 0.003). The results indicate that DRD2 variants are predictors of heroin use and subsequent methadone treatment outcome and suggest a pharmacogenetic approach to the treatment of opioid dependence. ..
  69. Spurdle A, Hopper J, Chen X, Dite G, Cui J, McCredie M, et al. The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years. Cancer Epidemiol Biomarkers Prev. 2002;11:413-6 pubmed
    ..The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women. This result is consistent with the findings for Northern European women. ..
  70. Yang Z, van Oosterom E, Jordan D, Hammer G. Pre-anthesis ovary development determines genotypic differences in potential kernel weight in sorghum. J Exp Bot. 2009;60:1399-408 pubmed publisher
    ..The pre-fertilization genetic control of kernel weight probably operated through the developing pericarp, which is derived from the ovary wall and potentially constrains kernel expansion. ..
  71. Spurdle A, Hopper J, Chen X, McCredie M, Giles G, Newman B, et al. Prohibitin 3' untranslated region polymorphism and breast cancer risk in Australian women. Lancet. 2002;360:925-6 pubmed
    ..96, 95% CI 0.80-1.16; p=0.7), or in subgroups defined by age or family history, or both. Hence, our results do not lend support to the hypothesis that this polymorphism contributes to risk of breast cancer. ..
  72. Sturm R, Duffy D, Box N, Newton R, Shepherd A, Chen W, et al. Genetic association and cellular function of MC1R variant alleles in human pigmentation. Ann N Y Acad Sci. 2003;994:348-58 pubmed
    ..With this objective, we have established more than 300 melanocyte cell strains of defined MC1R genotype. ..
  73. Hammer G, Cooper M, Tardieu F, Welch S, Walsh B, van Eeuwijk F, et al. Models for navigating biological complexity in breeding improved crop plants. Trends Plant Sci. 2006;11:587-93 pubmed
    ..Much of the fine detail is not directly required. Robust coarse-grained models might be the tool needed to integrate phenotypic and molecular approaches to plant breeding. ..
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    ..This study suggests an attentional phenotype that relates to symptom severity and genetic risk for ADHD, and may have utility in predicting stimulant response in ADHD. ..
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    ..Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers. ..
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    ..In addition, the whole-cell metabolic assays described here provide simple, high-throughput methods useful for screening larger libraries. ..
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    ..Replication studies will be required to refine the risk estimate and to establish if this, or a correlated SNP, is the underlying causative variant. ..
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    ..Genetic variants that putatively affect bone maintenance and/or loss in adults appear to have a small influence on the rate of bone acquisition through adolescence. ..
  87. Mather K, Thalamuthu A, Oldmeadow C, Song F, Armstrong N, Poljak A, et al. Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults. Sci Rep. 2016;6:23675 pubmed publisher
    ..However, replication of these results in the smaller OATS cohort was not found. This work provides impetus for future research to better understand the contribution of genetics to ApoH levels and its possible impacts on health. ..
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    ..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. ..
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    ..A web-based application implementing our expressions has been developed to aid in the design of indirect association studies. ..
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    ..02), which revealed the greatest impairment in children with ADHD homozygous for the DAT1 haplotype. Heterogeneity in selective attention in ADHD can be explained by a replicated genetic risk factor for ADHD, the 10/3 DAT1 haplotype. ..
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    ..minibicornis population exhibited strong signals of structuring by both geography and salmonid host species. Particular genotypes may correlate with disease differences seen in salmon populations in the Pacific Northwest...
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